KDM7A
gene geneOn this page
Also known as KIAA1718
Summary
KDM7A (lysine demethylase 7A, HGNC:22224) is a protein-coding gene on chromosome 7q34, encoding Lysine-specific demethylase 7A (Q6ZMT4). Histone demethylase required for brain development.
Enables histone demethylase activity and transition metal ion binding activity. Predicted to be involved in chromatin remodeling; midbrain development; and regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Implicated in melanoma.
Source: NCBI Gene 80853 — automated summary from GO annotations (Alliance of Genome Resources).
At a glance
- Gene–disease (curated): cerebral palsy (Limited, GenCC)
- GWAS associations: 5
- Clinical variants (ClinVar): 92 total
- Regional missense constraint (gnomAD): 1 of 4 regions constrained (≈1% of expected missense variation)
- GTEx eGene: eQTL in 35 tissues, sQTL in 0 (q < 0.05)
- ChEMBL bioactivity: 1 clinical-phase molecule tested; no curated mechanism-of-action drug
- Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.41 (moderately constrained)
- MANE Select transcript:
NM_030647 - Notable: 92 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22224 |
| Approved symbol | KDM7A |
| Name | lysine demethylase 7A |
| Location | 7q34 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1718 |
| Ensembl gene | ENSG00000006459 |
| Ensembl biotype | protein_coding |
| OMIM | 619640 |
| Entrez | 80853 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
MANE Select: ENST00000397560
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 2
ENST00000397560, ENST00000472616, ENST00000478996, ENST00000895776, ENST00000912301, ENST00000942646, ENST00000997615, ENST00001110820, ENST00001136425
RefSeq mRNA: 1 — MANE Select: NM_030647
NM_030647
CCDS: CCDS43658
Canonical transcript exons
ENST00000397560 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000360316 | 140120442 | 140120529 |
| ENSE00000726713 | 140096555 | 140096763 |
| ENSE00000726716 | 140096899 | 140097047 |
| ENSE00000726724 | 140097545 | 140097642 |
| ENSE00000726740 | 140098879 | 140099033 |
| ENSE00000726787 | 140111095 | 140111184 |
| ENSE00000726816 | 140124621 | 140124783 |
| ENSE00000726821 | 140126637 | 140126823 |
| ENSE00000726824 | 140127442 | 140127583 |
| ENSE00001155866 | 140099899 | 140100023 |
| ENSE00001155872 | 140101951 | 140102160 |
| ENSE00001155888 | 140119113 | 140119219 |
| ENSE00001155914 | 140129493 | 140129653 |
| ENSE00001155929 | 140084746 | 140091188 |
| ENSE00001400748 | 140133539 | 140133656 |
| ENSE00001401297 | 140139105 | 140139190 |
| ENSE00001414149 | 140113491 | 140113582 |
| ENSE00001890729 | 140176744 | 140176983 |
| ENSE00003496538 | 140094056 | 140094138 |
| ENSE00003509046 | 140091804 | 140092077 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 95.40.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.6782 / max 237.9970, expressed in 1656 samples.
Highest expression (Bgee): cartilage tissue, tendon of biceps brachii, gluteal muscle, bone marrow, upper leg skin.
Genetic regulation across tissues (GTEx eQTL / sQTL)
KDM7A is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 35 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 35 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Nerve Tibial | eqtl | 5.2e-19 | +0.45 | 7:140095480:A:G |
| Cells Cultured fibroblasts | eqtl | 2.3e-12 | +0.27 | 7:140200979:C:T |
| Brain Cerebellum | eqtl | 6.1e-12 | +0.63 | 7:140184390:G:T |
| Brain Caudate basal ganglia | eqtl | 1.5e-11 | +0.64 | 7:140091534:C:A |
| Brain Nucleus accumbens basal ganglia | eqtl | 1.7e-11 | +0.81 | 7:140085851:A:G |
| Brain Frontal Cortex BA9 | eqtl | 2.2e-11 | +0.61 | 7:140091534:C:A |
| Brain Cerebellar Hemisphere | eqtl | 5.9e-11 | +0.42 | 7:140085851:A:G |
| Brain Cortex | eqtl | 2.7e-10 | +0.72 | 7:140091534:C:A |
| Brain Spinal cord cervical c-1 | eqtl | 3.2e-10 | +0.78 | 7:140204606:A:T |
| Brain Putamen basal ganglia | eqtl | 6.2e-09 | +0.69 | 7:140169572:G:C |
| Brain Hippocampus | eqtl | 2.7e-08 | +0.59 | 7:140085851:A:G |
| Brain Substantia nigra | eqtl | 1.3e-07 | +0.70 | 7:140091534:C:A |
| Pancreas | eqtl | 7.8e-07 | +0.35 | 7:140181053:T:TAAGAA |
| Pituitary | eqtl | 1.0e-05 | +0.36 | 7:140181053:T:TAAGAA |
| Colon Sigmoid | eqtl | 7.4e-05 | +0.23 | 7:140185490:A:G |
| Whole Blood | eqtl | 3.2e-04 | -0.06 | 7:140305393:G:A |
| Muscle Skeletal | eqtl | 4.1e-04 | +0.08 | 7:140235772:C:A |
| Thyroid | eqtl | 4.5e-04 | +0.16 | 7:140169572:G:C |
| Spleen | eqtl | 5.7e-04 | +0.29 | 7:140091534:C:A |
| Cells EBV-transformed lymphocytes | eqtl | 1.4e-03 | -0.27 | 7:140211329:G:A |
FANTOM5 promoters
4 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 86537 | 5.5326 | 1310 |
| 86536 | 3.1107 | 1018 |
| 86538 | 2.7010 | 1056 |
| 86533 | 0.3338 | 146 |
Top tissues by expression
showing 100 of 295 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cartilage tissue | UBERON:0002418 | 95.40 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.67 | gold quality |
| gluteal muscle | UBERON:0002000 | 93.76 | gold quality |
| bone marrow | UBERON:0002371 | 91.74 | gold quality |
| upper leg skin | UBERON:0004262 | 91.72 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.66 | gold quality |
| monocyte | CL:0000576 | 91.08 | gold quality |
| mononuclear cell | CL:0000842 | 91.06 | gold quality |
| leukocyte | CL:0000738 | 90.63 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 90.17 | silver quality |
| buccal mucosa cell | CL:0002336 | 90.10 | gold quality |
| skin of hip | UBERON:0001554 | 89.57 | gold quality |
| bone marrow cell | CL:0002092 | 89.47 | gold quality |
| jejunal mucosa | UBERON:0000399 | 89.36 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 88.94 | gold quality |
| squamous epithelium | UBERON:0006914 | 88.36 | gold quality |
| gastrocnemius | UBERON:0001388 | 88.25 | gold quality |
| blood | UBERON:0000178 | 88.16 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 88.08 | gold quality |
| jejunum | UBERON:0002115 | 88.05 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 87.86 | gold quality |
| tendon | UBERON:0000043 | 87.65 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 87.31 | gold quality |
| sperm | CL:0000019 | 87.30 | silver quality |
| muscle of leg | UBERON:0001383 | 87.02 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 87.02 | gold quality |
| gingival epithelium | UBERON:0001949 | 86.98 | gold quality |
| colonic epithelium | UBERON:0000397 | 86.84 | gold quality |
| colonic mucosa | UBERON:0000317 | 86.79 | gold quality |
| pericardium | UBERON:0002407 | 86.73 | gold quality |
| skin of leg | UBERON:0001511 | 86.46 | gold quality |
| tonsil | UBERON:0002372 | 86.29 | gold quality |
| medial globus pallidus | UBERON:0002477 | 86.09 | gold quality |
| zone of skin | UBERON:0000014 | 86.03 | gold quality |
| oviduct epithelium | UBERON:0004804 | 85.99 | gold quality |
| gingiva | UBERON:0001828 | 85.92 | gold quality |
| skin of abdomen | UBERON:0001416 | 85.74 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 85.73 | gold quality |
| bronchus | UBERON:0002185 | 85.71 | gold quality |
| bronchial epithelial cell | CL:0002328 | 85.70 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 85.70 | gold quality |
| duodenum | UBERON:0002114 | 85.61 | gold quality |
| rectum | UBERON:0001052 | 85.49 | gold quality |
| cervix epithelium | UBERON:0004801 | 85.47 | gold quality |
| muscle organ | UBERON:0001630 | 85.21 | gold quality |
| male germ cell | CL:0000015 | 85.09 | silver quality |
| body of tongue | UBERON:0011876 | 84.93 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 84.81 | gold quality |
| placenta | UBERON:0001987 | 84.78 | gold quality |
| tongue | UBERON:0001723 | 84.67 | gold quality |
| biceps brachii | UBERON:0001507 | 84.58 | gold quality |
| secondary oocyte | CL:0000655 | 84.57 | gold quality |
| saphenous vein | UBERON:0007318 | 84.47 | gold quality |
| calcaneal tendon | UBERON:0003701 | 84.45 | gold quality |
| deltoid | UBERON:0001476 | 84.25 | silver quality |
| urethra | UBERON:0000057 | 84.18 | gold quality |
| diaphragm | UBERON:0001103 | 84.15 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 83.99 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 83.97 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 83.96 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 83.96 | gold quality |
| uterine cervix | UBERON:0000002 | 83.85 | gold quality |
| endothelial cell | CL:0000115 | 83.81 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 83.81 | gold quality |
| mucosa of stomach | UBERON:0001199 | 83.71 | gold quality |
| right lung | UBERON:0002167 | 83.63 | gold quality |
| synovial joint | UBERON:0002217 | 83.63 | gold quality |
| superior surface of tongue | UBERON:0007371 | 83.63 | gold quality |
| globus pallidus | UBERON:0001875 | 83.31 | gold quality |
| triceps brachii | UBERON:0001509 | 83.18 | gold quality |
| caecum | UBERON:0001153 | 83.16 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 83.15 | gold quality |
| connective tissue | UBERON:0002384 | 83.13 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 83.07 | gold quality |
| mammary gland | UBERON:0001911 | 83.05 | gold quality |
| vermiform appendix | UBERON:0001154 | 82.89 | gold quality |
| adipose tissue | UBERON:0001013 | 82.82 | gold quality |
| minor salivary gland | UBERON:0001830 | 82.81 | gold quality |
| transverse colon | UBERON:0001157 | 82.77 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 82.73 | gold quality |
| esophagus mucosa | UBERON:0002469 | 82.70 | gold quality |
| mouth mucosa | UBERON:0003729 | 82.70 | gold quality |
| vena cava | UBERON:0004087 | 82.66 | gold quality |
| large intestine | UBERON:0000059 | 82.61 | gold quality |
| endometrium | UBERON:0001295 | 82.59 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 82.57 | gold quality |
| pylorus | UBERON:0001166 | 82.52 | gold quality |
| mammary duct | UBERON:0001765 | 82.49 | gold quality |
| intestine | UBERON:0000160 | 82.44 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 82.39 | gold quality |
| colon | UBERON:0001155 | 82.38 | gold quality |
| tibialis anterior | UBERON:0001385 | 82.22 | gold quality |
| nipple | UBERON:0002030 | 82.11 | gold quality |
| small intestine | UBERON:0002108 | 82.06 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.01 | gold quality |
| cauda epididymis | UBERON:0004360 | 81.99 | gold quality |
| lower lobe of lung | UBERON:0008949 | 81.86 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.84 | gold quality |
| granulocyte | CL:0000094 | 81.82 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 81.78 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-10 | no | 478.17 |
| E-ANND-3 | no | 0.00 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 79 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Cerebral cortex | tissue | 29.9 | high |
| Occipital cortex | tissue | 29.9 | |
| Somatosensory cortex | tissue | 28.8 | |
| Superior colliculi | tissue | 26.6 | |
| Olfactory bulb | tissue | 25.5 | |
| Thalamus | tissue | 24.8 | |
| Motor cortex | tissue | 21.4 | |
| Midbrain | tissue | 20.8 | |
| Hippocampal formation | tissue | 20.2 | |
| Entorhinal cortex | tissue | 20.2 | |
| Retrosplenial and cingulate cortex | tissue | 19.7 | |
| Pons | tissue | 19.5 | |
| Spinal cord | tissue | 19.3 | |
| Temporal cortex | tissue | 19.3 | |
| Prefrontal cortex | tissue | 19.0 | |
| Putamen | tissue | 19.0 | |
| Cerebellum | tissue | 18.9 | medium |
| Retrosplenial cortex | tissue | 18.4 | |
| Insular cortex | tissue | 16.7 | |
| Medulla oblongata | tissue | 16.2 | |
| Substantia nigra | tissue | 16.1 | |
| Corpus callosum | tissue | 15.8 | |
| Bone marrow | tissue | 15.5 | high |
| Basal ganglia | tissue | 14.9 | medium |
| Ventral forebrain | tissue | 14.9 | |
| Caudate putamen | tissue | 14.0 | |
| Periaqueductal gray | tissue | 13.3 | |
| Hypothalamus | tissue | 12.7 | |
| Amygdala | tissue | 12.6 | |
| Tongue | tissue | 12.3 | |
| Septum | tissue | 12.3 | |
| Frontal cortex | tissue | 11.0 | |
| Cervix | tissue | 9.0 | high |
| Stomach 1 | tissue | 8.8 | low |
| Rectum | tissue | 8.8 | high |
| Placenta | tissue | 8.6 | high |
| Colon | tissue | 7.9 | high |
| Small intestine | tissue | 7.8 | high |
| Duodenum | tissue | 7.7 | high |
| Tonsil | tissue | 7.5 | high |
| Hippocampus | tissue | 7.4 | high |
| Postcentral gyrus | tissue | 7.3 | |
| Testis | tissue | 7.2 | low |
| Choroid plexus | tissue | 6.7 | |
| Lymph node | tissue | 6.5 | low |
| Esophagus | tissue | 6.5 | high |
| Appendix | tissue | 6.5 | high |
| Endometrium 1 | tissue | 6.2 | low |
| Liver | tissue | 6.2 | high |
| Thymus | tissue | 6.2 | |
| Adipose tissue | tissue | 6.1 | low |
| Locus coeruleus | tissue | 6.0 | |
| Retina | tissue | 5.4 | |
| Urinary bladder | tissue | 5.4 | high |
| Nucleus accumbens | tissue | 5.4 | |
| Spleen | tissue | 5.3 | medium |
| Lung | tissue | 4.5 | medium |
| Skin 1 | tissue | 4.3 | high |
| Gallbladder | tissue | 4.3 | high |
| Pancreas | tissue | 4.2 | medium |
Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Ventral spinal cord (19.3), Dorsal hippocampus (19.1), Dorsal spinal cord (17.2), White matter (15.8), Ventral hippocampus (15.3).
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): EPAS1, HIF1A
miRNA regulators (miRDB)
Targeting KDM7A by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 480 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
Functional genomics
gnomAD constraint: pLI 1, LOEUF 0.405, missense Z 1.11 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD)
ENST00000397560 splits into 4 regions with different missense tolerance; 1 is missense-constrained (≈1% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD
| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
|---|---|---|---|
| 7:140,091,097–140,111,155 | 512 / 576.6 | 0.89 | no |
| 7:140,111,156–140,113,504 | 0 / 16.6 | 0.00 | yes (p 4.6e-05) |
| 7:140,113,505–140,176,751 | 318 / 453.1 | 0.70 | no |
| 7:140,176,752–140,176,937 | 112 / 96.2 | 1.16 | no |
Literature-anchored findings (GeneRIF, showing 13)
- KIAA1718 is a dual-specificity histone demethylase that regulates neural differentiation through FGF4. (PMID:20084082)
- increased JHDM1D expression suppresses tumor growth by down-regulating angiogenesis under nutrient starvation (PMID:22143793)
- Histone modifier genes (JMJD1C, RREB1, MINA, KDM7A) alter conotruncal heart phenotypes in 22q11.2 deletion syndrome. (PMID:26608785)
- G9a promotes H3K27 methylation of the E-cadherin promoter by upregulating PCL3 to increase PRC2 promoter recruitment and by downregulating the H3K27 demethylase KDM7A to silence E-cadherin gene (PMID:26688070)
- KDM7A mediates TNF-alpha-induced ICAM1 protein upregulation. (PMID:27565733)
- decreased expression in placenta associated with pre-eclampsia through down-regulating HLA-G (PMID:29662139)
- KDM7A is potentially a good therapeutic target for prostate cancer drugs. (PMID:30183076)
- Histone demethylase KDM7A is required for stem cell maintenance and apoptosis inhibition in breast cancer. (PMID:31236965)
- Coordinated demethylation of H3K9 and H3K27 is required for rapid inflammatory responses of endothelial cells. (PMID:32125007)
- Histone Demethylase KDM7A Regulates Androgen Receptor Activity, and Its Chemical Inhibitor TC-E 5002 Overcomes Cisplatin-Resistance in Bladder Cancer Cells. (PMID:32781788)
- The nuclear bodies formed by histone demethylase KDM7A. (PMID:32935279)
- JHDM1D-AS1 aggravates the development of gastric cancer through miR-450a-2-3p-PRAF2 axis. (PMID:33245963)
- Inhibition of KDM2/7 Promotes Notochordal Differentiation of hiPSCs. (PMID:39273051)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kdm7aa | ENSDARG00000018111 |
| danio_rerio | kdm7ab | ENSDARG00000018559 |
| mus_musculus | Kdm7a | ENSMUSG00000042599 |
| rattus_norvegicus | Kdm7a | ENSRNOG00000052445 |
| caenorhabditis_elegans | WBGENE00005013 | |
| caenorhabditis_elegans | WBGENE00017920 |
Paralogs (4): KDM2B (ENSG00000089094), PHF8 (ENSG00000172943), KDM2A (ENSG00000173120), PHF2 (ENSG00000197724)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:2443388) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 21 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| abnormal trabecular bone morphology | 1 |
| abnormal hair follicle morphology | 1 |
| abnormal sebaceous gland morphology | 1 |
| abnormal tail morphology | 1 |
| vertebral transformation | 1 |
| decreased osteoclast cell number | 1 |
| increased osteoblast cell number | 1 |
| decreased bone resorption | 1 |
| abnormal osteoclast differentiation | 1 |
| abnormal hair follicle bulge morphology | 1 |
| increased bone mineral content | 1 |
| increased bone trabecula number | 1 |
| increased trabecular bone mass | 1 |
| increased trabecular bone volume | 1 |
| abnormal fat cell differentiation | 1 |
| enhanced osteoblast differentiation | 1 |
| decreased bone trabecular spacing | 1 |
| increased bone ossification | 1 |
| increased bone mineralization | 1 |
| decreased tumor necrosis factor (ligand) superfamily member 11 level | 1 |
| decreased bone marrow adipose tissue amount | 1 |
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Oryza sativa Indica Group | A2Y0Q2 | 100.0% | Diamond |
| Oryza sativa Japonica Group | Q6Z7F4 | 100.0% | Diamond |
| Cryptococcus deneoformans JEC21 | P0CO40 | 97.4% | Diamond |
| Cryptococcus deneoformans B-3501A | P0CO41 | 97.4% | Diamond |
| Bos taurus | Q5EA28 | 95.3% | Diamond |
| Arabidopsis thaliana | Q9FFF5 | 86.8% | Diamond |
| Medicago sativa | Q40359 | 79.2% | Diamond |
| Dicentrarchus labrax | E6ZGB4 | 78.2% | Diamond |
| Xenopus laevis | Q640I9 | 73.8% | Diamond |
| Xenopus tropicalis | Q08D35 | 69.2% | Diamond |
| Caenorhabditis briggsae | Q60V67 | 66.8% | Diamond |
| Aspergillus nidulans FGSC A4 | Q5AW75 | 64.6% | Diamond |
| Aspergillus fumigatus Af293 | Q4WHB7 | 64.5% | Diamond |
| Drosophila melanogaster | Q9W0T1 | 60.8% | Diamond |
| Schizosaccharomyces pombe 972h- | O74508 | 53.1% | Diamond |
| Nakaseomyces glabratus CBS 138 | Q6FPL6 | 52.2% | Diamond |
| Candida albicans SC5314 | Q5A847 | 50.2% | Diamond |
| Debaryomyces hansenii CBS767 | Q6BXJ4 | 50.2% | Diamond |
| Kluyveromyces lactis NRRL Y-1140 | Q6CIC9 | 49.9% | Diamond |
| Yarrowia lipolytica CLIB122 | Q6C423 | 43.0% | Diamond |
| Mycosarcoma maydis | Q4P5U1 | 42.0% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| KDM7A-DT | ncRNA | 100134229 |
| PARP12 | protein-coding | 64761 |
| TBXAS1 | protein-coding | 6916 |
Protein
Protein identifiers
Lysine-specific demethylase 7A — Q6ZMT4 (reviewed: Q6ZMT4)
Alternative names: JmjC domain-containing histone demethylation protein 1D, Lysine-specific demethylase 7, [histone H3]-dimethyl-L-lysine9 demethylase 7A
All UniProt accessions (2): Q6ZMT4, H9KVD6
UniProt curated annotations — full annotation on UniProt →
Function. Histone demethylase required for brain development. Specifically demethylates dimethylated ‘Lys-9’, ‘Lys-27’ and ‘Lys-36’ (H3K9me2, H3K27me2, H3K36me2, respectively) of histone H3 and monomethylated histone H4 ‘Lys-20’ residue (H4K20Me1), thereby playing a central role in histone code. Specifically binds trimethylated ‘Lys-4’ of histone H3 (H3K4me3), affecting histone demethylase specificity: in presence of H3K4me3, it has no demethylase activity toward H3K9me2, while it has high activity toward H3K27me2. Demethylates H3K9me2 in absence of H3K4me3. Has activity toward H4K20Me1 only when nucleosome is used as a substrate and when not histone octamer is used as substrate.
Subcellular location. Nucleus.
Cofactor. Binds 1 Fe(2+) ion per subunit.
Domain organisation. The PHD-type zinc finger mediates the binding to H3K4me3. Binding to H3K4me3 prevents its access to H3K9me2. The linker region is a critical determinant of demethylase specificity. It prevents the active site of JmjC to reach the target H3K9me2 when the PHD-type zinc finger binds to H3K4me3, while it favors selectivity toward H3K27me2.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the JHDM1 histone demethylase family. JHDM1D subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZMT4-1 | 1 | yes |
| Q6ZMT4-2 | 2 |
RefSeq proteins (1): NP_085150* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001965 | Znf_PHD | Domain |
| IPR003347 | JmjC_dom | Domain |
| IPR011011 | Znf_FYVE_PHD | Homologous_superfamily |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR019786 | Zinc_finger_PHD-type_CS | Conserved_site |
| IPR019787 | Znf_PHD-finger | Domain |
| IPR041070 | JHD | Domain |
| IPR050690 | JHDM1_Histone_Demethylase | Family |
Pfam: PF00628, PF02373, PF17811
Enzyme classification (BRENDA)
- EC 1.14.11.65 — [histone H3]-dimethyl-L-lysine9 demethylase (BRENDA: 9 organisms, 67 substrates, 84 inhibitors, 4 Km, 4 kcat entries)
Substrate kinetics (BRENDA)
2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| [HISTONE H3]-N6,N6-DIMETHYL-L-LYSINE9 | 0.106–0.1061 | 2 |
| [HISTONE H3]-N6-METHYL-L-LYSINE9 | 0.095–0.0952 | 2 |
Catalyzed reactions (Rhea)
- N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2-oxoglutarate + O2 = N(6)-methyl-L-lysyl(36)-[histone H3] + formaldehyde + succinate + CO2 (RHEA:21788)
- N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 2-oxoglutarate + 2 O2 = L-lysyl(9)-[histone H3] + 2 formaldehyde + 2 succinate + 2 CO2 (RHEA:60188)
- N(6),N(6)-dimethyl-L-lysyl(27)-[histone H3] + 2 2-oxoglutarate + 2 O2 = L-lysyl(27)-[histone H3] + 2 formaldehyde + 2 succinate + 2 CO2 (RHEA:67800)
- N(6)-methyl-L-lysyl(20)-[histone H4] + 2-oxoglutarate + O2 = L-lysyl(20)-[histone H4] + formaldehyde + succinate + CO2 (RHEA:67804)
UniProt features (72 total): helix 27, strand 17, turn 8, binding site 5, region of interest 4, compositionally biased region 3, splice variant 2, chain 1, domain 1, modified residue 1, sequence variant 1, sequence conflict 1, zinc finger region 1
Structure
Experimental structures (PDB)
6 structures by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 3KV9 | Structure of KIAA1718 Jumonji domain | X-RAY DIFFRACTION | 2.29 |
| 3KV5 | Structure of KIAA1718, human Jumonji demethylase, in complex with N-oxalylglycine | X-RAY DIFFRACTION | 2.39 |
| 3U78 | E67-2 selectively inhibits KIAA1718, a human histone H3 lysine 9 Jumonji demethylase | X-RAY DIFFRACTION | 2.69 |
| 3KVB | Structure of KIAA1718 Jumonji domain in complex with N-oxalylglycine | X-RAY DIFFRACTION | 2.69 |
| 3KVA | Structure of KIAA1718 Jumonji domain in complex with alpha-ketoglutarate | X-RAY DIFFRACTION | 2.79 |
| 3KV6 | Structure of KIAA1718, human Jumonji demethylase, in complex with alpha-ketoglutarate | X-RAY DIFFRACTION | 2.89 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZMT4-F1 | 66.80 | 0.47 |
Human Protein Atlas
Protein class: Enzymes, ENZYME proteins, Oxidoreductases, Predicted intracellular proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): nucleoplasm; nucleoli
Antibody reliability (HPA): IH uncertain · IF approved
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (5)
| Position | Role |
|---|---|
| 279 | substrate |
| 282 | Fe cation |
| 284 | Fe cation |
| 299 | substrate |
| 354 | Fe cation |
Post-translational modifications (1)
| Type | Positions |
|---|---|
| Phosphoserine | 604 |
Function
Pathways and Gene Ontology
Reactome pathways
2 curated (TAS) of 7; 4 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
7 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-6802952 | Signaling by BRAF and RAF1 fusions ⚕ | curated |
| R-HSA-3214842 | HDMs demethylate histones | curated |
| R-HSA-1643685 | Disease ⚕ | — |
| R-HSA-5663202 | Diseases of signal transduction by growth factor receptors and second messengers ⚕ | — |
| R-HSA-6802957 | Oncogenic MAPK signaling ⚕ | — |
| R-HSA-3247509 | Chromatin modifying enzymes | — |
| R-HSA-4839726 | Chromatin organization | — |
MSigDB gene sets: 329 (showing top):
GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, PEREZ_TP63_TARGETS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, BILD_HRAS_ONCOGENIC_SIGNATURE, ONKEN_UVEAL_MELANOMA_UP, MODULE_256, GOBP_MIDBRAIN_DEVELOPMENT, MODULE_206, GOBP_HEAD_DEVELOPMENT, CUI_TCF21_TARGETS_2_DN, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, GOBP_CHROMATIN_REMODELING, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, GOCC_NUCLEOLUS
GO Biological Process (7): chromatin remodeling (GO:0006338), DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), midbrain development (GO:0030901), positive regulation of DNA-templated transcription (GO:0045893), chromatin organization (GO:0006325), nervous system development (GO:0007399)
GO Molecular Function (13): transcription coregulator activity (GO:0003712), iron ion binding (GO:0005506), zinc ion binding (GO:0008270), 2-oxoglutarate-dependent dioxygenase activity (GO:0016706), histone demethylase activity (GO:0032452), histone H3K9 demethylase activity (GO:0032454), histone H4K20 demethylase activity (GO:0035575), histone H3K36 demethylase activity (GO:0051864), histone H3K27me2/H3K27me3 demethylase activity (GO:0071558), histone H3K9me/H3K9me2 demethylase activity (GO:0140683), oxidoreductase activity (GO:0016491), metal ion binding (GO:0046872), dioxygenase activity (GO:0051213)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730)
Reactome top-level categories
5 top-level categories:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
| Oncogenic MAPK signaling | 1 |
| Chromatin organization | 1 |
| Disease | 1 |
| Diseases of signal transduction by growth factor receptors and second messengers | 1 |
GO top-level categories
28 GO namespaces:
| Category | Terms |
|---|---|
| 2-oxoglutarate-dependent dioxygenase activity | 4 |
| histone H3 demethylase activity | 3 |
| regulation of DNA-templated transcription | 2 |
| animal gross anatomical part developmental process | 2 |
| transition metal ion binding | 2 |
| nuclear lumen | 2 |
| chromatin organization | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| transcription by RNA polymerase II | 1 |
| brain development | 1 |
| DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| cellular component organization | 1 |
| system development | 1 |
| transcription regulator activity | 1 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | 1 |
| dioxygenase activity | 1 |
| protein demethylase activity | 1 |
| histone modifying activity | 1 |
| histone H4 demethylase activity | 1 |
| histone H3K9 demethylase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| oxidoreductase activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 8 of 23 annotations. The rest are phylogenetic / computational / electronic (IEA).
8 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| 2-oxoglutarate-dependent dioxygenase activity | MF | direct assay |
| histone H3K27me2/H3K27me3 demethylase activity | MF | direct assay |
| histone H3K36 demethylase activity | MF | direct assay |
| histone H3K9 demethylase activity | MF | direct assay |
| histone H3K9me/H3K9me2 demethylase activity | MF | direct assay |
| histone H4K20 demethylase activity | MF | direct assay |
| iron ion binding | MF | direct assay |
| zinc ion binding | MF | direct assay |
Protein interactions and networks
STRING
showing 15 of 731 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KDM7A | KDM4A | O75164 | 679 |
| KDM7A | KDM6B | O15054 | 642 |
| KDM7A | KDM5A | P29375 | 618 |
| KDM7A | JMJD1C | Q15652 | 614 |
| KDM7A | KDM6A | O15550 | 610 |
| KDM7A | KDM4C | Q9H3R0 | 602 |
| KDM7A | KDM3A | Q9Y4C1 | 602 |
| KDM7A | KDM4B | O94953 | 601 |
| KDM7A | KDM5B | Q9UGL1 | 598 |
| KDM7A | KDM3B | Q7LBC6 | 597 |
| KDM7A | KDM4D | Q6B0I6 | 582 |
| KDM7A | KDM1A | O60341 | 565 |
| KDM7A | KDM5C | P41229 | 555 |
| KDM7A | KDM8 | Q8N371 | 533 |
| KDM7A | Q08EI0 | Q08EI0 | 523 |
IntAct
BioGRID (9 interactions; top human partners by supporting records): KDM6B (Affinity Capture-MS; 2 records), ACOT7 (Affinity Capture-MS), BCL6 (Affinity Capture-MS), JOSD2 (Affinity Capture-MS), KIAA1429 (Affinity Capture-RNA), NUDT21 (Affinity Capture-RNA), PARP1 (Proximity Label-MS), PARP11 (Proximity Label-MS)
SIGNOR signaling
3 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| HIF1A | “up-regulates quantity by expression” | KDM7A | “transcriptional regulation” |
| EPAS1 | “up-regulates quantity by expression” | KDM7A | “transcriptional regulation” |
| 2-oxoglutarate(2-) | “up-regulates activity” | KDM7A | “chemical activation” |
Disease & clinical
Genetic variants
Variant evidence for KDM7A: 92 ClinVar records (0 pathogenic / likely pathogenic); 5 GWAS associations.
ClinVar
92 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 91 |
| Likely benign | 1 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 25 predictions of 2,301):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 7:140094054–140094055 | donor_loss | 1.0000 | 5 |
| 7:140094139–140094140 | acceptor_loss | 1.0000 | 4 |
| 7:140098877–140098878 | donor_loss | 1.0000 | 2 |
| 7:140099034–140099036 | acceptor_gain | 1.0000 | 3 |
| 7:140099034–140099035 | acceptor_loss | 1.0000 | 2 |
| 7:140099039 | acceptor_gain | 1.0000 | |
| 7:140099902 | donor_gain | 1.0000 | |
| 7:140101989 | donor_gain | 1.0000 | |
| 7:140111093–140111094 | donor_loss | 1.0000 | 5 |
| 7:140111191 | acceptor_gain | 1.0000 |
AlphaMissense
2,207 missense substitutions predicted likely pathogenic (of 6,246 scored), across 475 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| M52 | 9 | 0.986 | 0.999 |
| M918 | 9 | 0.930 | 0.996 |
| M738 | 9 | 0.893 | 0.993 |
| M272 | 9 | 0.860 | 0.997 |
| M384 | 9 | 0.839 | 0.995 |
| H282 | 8 | 0.999 | 1.000 |
| D284 | 8 | 0.999 | 1.000 |
| D280 | 8 | 0.998 | 1.000 |
| H63 | 8 | 0.997 | 0.999 |
| F285 | 8 | 0.996 | 1.000 |
| N368 | 8 | 0.996 | 1.000 |
| H354 | 8 | 0.995 | 0.999 |
| S227 | 8 | 0.993 | 1.000 |
| F394 | 8 | 0.993 | 1.000 |
| F51 | 8 | 0.990 | 1.000 |
| D196 | 8 | 0.990 | 0.998 |
| F230 | 8 | 0.988 | 1.000 |
| F301 | 8 | 0.988 | 0.999 |
| F281 | 8 | 0.987 | 0.999 |
| H371 | 8 | 0.987 | 0.997 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
3 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Kidney Renal Clear Cell Carcinoma (TCGA) | favorable | 1.44e-05 |
| Kidney Renal Clear Cell Carcinoma (validation) | favorable | 0.000151 |
| Lung Squamous Cell Carcinoma (validation) | favorable | 0.000271 |
Disease associations
OMIM: gene MIM:619640 | disease phenotypes:
GenCC curated gene-disease
1 curated gene-disease records:
| Disease | Classification | Inheritance | Records |
|---|---|---|---|
| cerebral palsy | Limited | Autosomal dominant |
Mondo (1): cerebral palsy (MONDO:0006497)
GWAS associations
5 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST90002400_230 | Plateletcrit | 8e-22 |
| GCST90002402_383 | Platelet count | 9e-14 |
| GCST90002402_384 | Platelet count | 4e-11 |
| GCST004607_154 | Plateletcrit | 1e-9 |
| GCST90002400_231 | Plateletcrit | 3e-9 |
EFO canonical traits (from GWAS)
2 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
MeSH disease descriptors
1 disease descriptors:
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002547 | Cerebral Palsy | C10.228.140.140.254 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL2163177 (SINGLE PROTEIN), CHEMBL3038496 (PROTEIN FAMILY)
Molecules with ChEMBL bioactivity
Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 30,023 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
1 molecules by phase:
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL633 | AMIODARONE | 4 | 30,023 |
PharmGKB: 1 entry (CPIC guideline: no)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Histone demethylases
Most potent curated ligand interactions (1 total), top 1:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| daminozide | Inhibition | 5.68 | pIC50 |
Binding affinities (BindingDB)
15 measured of 16 human assays (16 total across all organisms); most potent 15 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| (2-{4-[(2-butyl-1-benzofuran-3-yl)carbonyl]-2,6-diiodophenoxy}ethyl)diethylamine | KI | 25 nM |
| CHEMBL4126235 | IC50 | 1700 nM |
| CHEMBL4130224 | IC50 | 120000 nM |
| CHEMBL4126406 | IC50 | 126000 nM |
| CHEMBL4127515 | IC50 | 221000 nM |
| CHEMBL4129980 | IC50 | 240000 nM |
| CHEMBL4129830 | IC50 | 242000 nM |
| CHEMBL4128613 | IC50 | 286000 nM |
| WAG-003 | IC50 | 307000 nM |
| CHEMBL4127792 | IC50 | 377000 nM |
| CHEMBL4126135 | IC50 | 386000 nM |
| WAG-005 | IC50 | 390000 nM |
| CHEMBL4126951 | IC50 | 397000 nM |
| CHEMBL4127094 | IC50 | 496000 nM |
| CHEMBL4128152 | IC50 | 697000 nM |
ChEMBL bioactivities
6 potent at pChembl≥5 of 15 total, top 6 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.72 | IC50 | 190 | nM | CHEMBL5723343 |
| 6.70 | IC50 | 200 | nM | CHEMBL2424812 |
| 5.80 | IC50 | 1600 | nM | CHEMBL1229308 |
| 5.72 | IC50 | 1900 | nM | CHEMBL4126235 |
| 5.68 | IC50 | 2100 | nM | CHEMBL2164243 |
| 5.25 | IC50 | 5600 | nM | CHEMBL4126406 |
PubChem BioAssay actives
5 with measured affinity, of 38 total; 5 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 3-[9-cyclopropylnonanoyl(hydroxy)amino]propanoic acid | 770453: Inhibition of KDM7A (unknown origin) using K27me2 peptide as substrate by MALDI assay | ic50 | 0.2000 | uM |
| 3-[9-(dimethylamino)nonanoyl-hydroxyamino]propanoic acid | 770453: Inhibition of KDM7A (unknown origin) using K27me2 peptide as substrate by MALDI assay | ic50 | 1.6000 | uM |
| [(5S)-6-[[(2S)-5-amino-1-[[(2S,3R)-1-[[(2S)-1-[[(2S)-1-[[(2S)-6-amino-1-[[(2S)-1-[[(2S,3R)-1-[[2-[[2-[[(2S)-6-amino-1-[[(2S)-1-[(2S)-2-[[(2S)-1-[[(2S)-6-amino-1-[[(2S)-5-amino-1-[[(2S)-1-[[(1S)-1-carboxyethyl]amino]-4-methyl-1-oxopentan-2-yl]amino]-1,5-dioxopentan-2-yl]amino]-1-oxohexan-2-yl]amino]-5-carbamimidamido-1-oxopentan-2-yl]carbamoyl]pyrrolidin-1-yl]-1-oxopropan-2-yl]amino]-1-oxohexan-2-yl]amino]-2-oxoethyl]amino]-2-oxoethyl]amino]-3-hydroxy-1-oxobutan-2-yl]amino]-3-hydroxy-1-oxopropan-2-yl]amino]-1-oxohexan-2-yl]amino]-5-carbamimidamido-1-oxopentan-2-yl]amino]-1-oxopropan-2-yl]amino]-3-hydroxy-1-oxobutan-2-yl]amino]-1,5-dioxopentan-2-yl]amino]-5-[[(2S,3R)-2-[[(2S)-2-[[(2S)-2-aminopropanoyl]amino]-5-carbamimidamidopentanoyl]amino]-3-hydroxybutanoyl]amino]-6-oxohexyl]-trimethylazanium | 1496240: Displacement of C-terminally biotinylated-H3K4me3 (1 to 21 residues) peptide from KDM7A (PHD) (unknown origin) preincubated for 15 mins followed by peptide addition measured after 1 hr by luminescence-based AlphaScreen assay | ic50 | 1.9000 | uM |
| 4-(2,2-dimethylhydrazinyl)-4-oxobutanoic acid | 698699: Inhibition of human KDM7A catalytic domain expressed in Escherichia coli by MALDI assay | ic50 | 2.1000 | uM |
| trimethyl-[3-[4-(2-methyl-1-benzofuran-3-carbonyl)phenoxy]propyl]azanium iodide | 1496244: Displacement of C-terminally biotinylated-H3K4me3 (1 to 21 residues) peptide from KDM7A (PHD-JmjC) (unknown origin) preincubated for 15 mins followed by peptide addition measured after 1 hr by luminescence-based AlphaScreen assay | ic50 | 5.6000 | uM |
CTD chemical–gene interactions
66 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases methylation | 3 |
| Cyclosporine | increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| didecyldimethylammonium | increases expression | 2 |
| (+)-JQ1 compound | increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Folic Acid | affects cotreatment, increases expression | 2 |
| Nickel | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| alpha phellandrene | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| nickel chloride | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
ChEMBL screening assays
10 unique, capped per target: 9 binding, 1 functional
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2167521 | Binding | Inhibition of human KDM7A catalytic domain expressed in Escherichia coli by MALDI assay | Plant growth regulator daminozide is a selective inhibitor of human KDM2/7 histone demethylases. — *J Med Chem* |
| CHEMBL5723316 | Functional | Affinity Biochemical interaction: (AlphaScreen) EUB0002790a JHDM1D | Affinity Biochemical Literature for EUbOPEN Chemogenomic Library |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1G6 | Abcam A-549 KDM7A KO 2 | Cancer cell line | Male |
| CVCL_B2NP | Abcam A-549 KDM7A KO 1 | Cancer cell line | Male |
| CVCL_SU53 | HAP1 KDM7A (-) 1 | Cancer cell line | Male |
| CVCL_SU54 | HAP1 KDM7A (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
showing 60 of 300 trials:
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00154830 | Phase 4 | COMPLETED | Alterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children |
| NCT00432055 | Phase 4 | COMPLETED | Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy |
| NCT00549471 | Phase 4 | TERMINATED | Improvement After Botulinum Toxin Injections to the Arms in Children With Cerebral Palsy |
| NCT00752934 | Phase 4 | TERMINATED | Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? |
| NCT00964639 | Phase 4 | COMPLETED | Postoperative Pain in Children With Cerebral Palsy After Pelvic and Femoral Osteotomies |
| NCT01386255 | Phase 4 | WITHDRAWN | Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy |
| NCT02546999 | Phase 4 | COMPLETED | Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? |
| NCT02633241 | Phase 4 | COMPLETED | A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging |
| NCT03117322 | Phase 4 | COMPLETED | Synbiotic, Prebiotics and Probiotics in Children With Cerebral Palsy and Constipation |
| NCT03648658 | Phase 4 | UNKNOWN | Paracetamol Study in Patients With Low Muscle Mass |
| NCT04074265 | Phase 4 | COMPLETED | Peri-operative Use of a Pain Injection in Pediatric Patients With Cerebral Palsy |
| NCT04273737 | Phase 4 | TERMINATED | Amantadine in Treating Cognitive & Motor Impairments in Adolescents and Adults With Cerebral Palsy |
| NCT04523935 | Phase 4 | COMPLETED | Excessive Crying in Children With Cerebral Palsy and Communication Deficits |
| NCT05887765 | Phase 4 | COMPLETED | Effect of Systematic Dexamethasone on the Duration of Popliteal Nerve Block for Anesthesia After Pediatric Ankle Surgery |
| NCT06176430 | Phase 4 | UNKNOWN | Comparison of Twice Weekly Versus Daily Iron Therapy in Treating Anemia in Children With Cerebral Palsy |
| NCT06189781 | Phase 4 | RECRUITING | Pain Injection Versus Epidural Anesthesia for Hip Surgery in Pediatric Patients With Cerebral Palsy |
| NCT00014989 | Phase 3 | COMPLETED | Beneficial Effects of Antenatal Magnesium Sulfate (BEAM Trial) |
| NCT00065949 | Phase 3 | UNKNOWN | Magnesium Sulfate to Prevent Brain Injury in Premature Infants |
| NCT00367068 | Phase 3 | COMPLETED | Dutch National ITB Study in Children With Cerebral Palsy |
| NCT00491894 | Phase 3 | COMPLETED | Safety and Efficacy Study of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions |
| NCT00632528 | Phase 3 | COMPLETED | MEOPA to Improve Physical Therapy Results After Multilevel Surgery |
| NCT00822029 | Phase 3 | TERMINATED | Use of Oral Bisphosphonates in the Treatment of Osteoporosis of Non-walking Children With Cerebral Palsy |
| NCT00922077 | Phase 3 | COMPLETED | Individualized Neurodevelopmental Treatment |
| NCT01249417 | Phase 3 | COMPLETED | Dysport® Pediatric Lower Limb Spasticity Study |
| NCT01251380 | Phase 3 | COMPLETED | Dysport® Pediatric Lower Limb Spasticity Follow-on Study |
| NCT01437644 | Phase 3 | COMPLETED | The Post-Operative Pain in Cerebral Palsy (POPPIES) Trial |
| NCT01492608 | Phase 3 | COMPLETED | Magnesium Sulphate for Preterm Birth (MASP Study) |
| NCT01603602 | Phase 3 | COMPLETED | BOTOX® Treatment in Pediatric Upper Limb Spasticity |
| NCT01603615 | Phase 3 | COMPLETED | BOTOX® Open-Label Treatment in Pediatric Upper Limb Spasticity |
| NCT01603628 | Phase 3 | COMPLETED | BOTOX® Treatment in Pediatric Lower Limb Spasticity |
| NCT01603641 | Phase 3 | COMPLETED | BOTOX® Open-Label Treatment in Pediatric Lower Limb Spasticity |
| NCT01633736 | Phase 3 | UNKNOWN | Targeted Hip Strength Training in Children With Cerebral Palsy (CP) |
| NCT01898520 | Phase 3 | COMPLETED | A Safety, Efficacy and Tolerability Study of Sativex for the Treatment of Spasticity in Children Aged 8 to 18 Years |
| NCT01929434 | Phase 3 | COMPLETED | Efficacy of Stem Cell Transplantation Compared to Rehabilitation Treatment of Patients With Cerebral Paralysis |
| NCT02002884 | Phase 3 | COMPLETED | Dose-response Study of Efficacy and Safety of Botulinum Toxin Type A to Treat Spasticity of the Arm(s) or of Arm(s) and Leg(s) in Cerebral Palsy |
| NCT02270736 | Phase 3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02839785 | Phase 3 | TERMINATED | Analgesia and Physiotherapy in Children With Cerebral Palsy (ANTALKINECP) |
| NCT03110341 | Phase 3 | UNKNOWN | Effect of Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome |
| NCT03302871 | Phase 3 | COMPLETED | Integrated Management Enhances Functional Gains in Children With Cerebral Palsy Treated by BoNT-A |
| NCT03306212 | Phase 3 | COMPLETED | Efficacy of Intermittent Serial Casting on Spastic Wrist Flexion Deformity |
| NCT03469999 | Phase 3 | COMPLETED | Effect of Dysport Injections on Energy Expenditure and Walking Efficiency in Children With Cerebral Palsy |
| NCT03472261 | Phase 3 | COMPLETED | Integrated Management of Pronation Deformity in Cerebral Palsy |
| NCT03616067 | Phase 3 | TERMINATED | Evaluation of the Efficacy of the Injection of Botulinum Toxin A vs Scopolamine Patches in the Treatment of Drooling in Children With Cerebral Palsy |
| NCT05206513 | Phase 3 | COMPLETED | Study to Assess the Efficacy, Safety, and Tolerability of Valbenazine for the Treatment of Dyskinesia Due to Cerebral Palsy |
| NCT06128616 | Phase 3 | UNKNOWN | Efficacy of Extracorporeal Shock Wave Therapy in Children With Cerebral Palsy |
| NCT06840158 | Phase 3 | COMPLETED | Double-blind Comparative Randomized Multicenter |
| NCT07524972 | Phase 3 | RECRUITING | Antenatal Magnesium Sulphate in High-Risk Preterm Patients |
| NCT07672158 | Phase 3 | NOT_YET_RECRUITING | Tranexamic Acid to Reduce Blood Loss After Varus Derotation Osteotomy |
| NCT00060957 | Phase 2 | COMPLETED | Botulinum Toxin (BOTOX) for Cerebral Palsy |
| NCT00061139 | Phase 2 | UNKNOWN | Constraint-Based Therapy to Improve Motor Function in Children With Cerebral Palsy |
| NCT00114075 | Phase 2 | COMPLETED | Effects of Walking Analysis on Surgical Outcomes |
| NCT00221247 | Phase 2 | COMPLETED | Acupuncture as Complementary Therapy for Cerebral Palsy |
| NCT00221611 | Phase 2 | COMPLETED | Intrathecal Administration of Baclofen (ITB) to Cerebral Palsy Patients With Therapy-Resistant Spasticity |
| NCT00295295 | Phase 2 | COMPLETED | Vibration Intervention to Improve Bone and Muscle in Children With Cerebral Palsy |
| NCT00413946 | Phase 2 | COMPLETED | Does Erythropoietin Improve Outcome in Very Preterm Infants? |
| NCT00455637 | Phase 2 | TERMINATED | Which is the Best Dose of Dysport in Helping With Hip Pain for Children With Cerebral Palsy? |
| NCT00467207 | Phase 2 | COMPLETED | Intensive Strength Training in Children With Cerebral Palsy - Effect on Hand Function |
| NCT01028833 | Phase 2 | COMPLETED | Effects of Power Mobility on Young Children With Severe Motor Impairments |
| NCT01115998 | Phase 2 | COMPLETED | Effect of Power Wheelchairs on the Development and Function of Young Children With Severe Physical Disabilities |
| NCT01147653 | Phase 2 | COMPLETED | A Randomized Study of Autologous Umbilical Cord Blood Reinfusion in Children With Cerebral Palsy |
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for KDM7A across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
- Associated diseases: cerebral palsy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cerebral palsy