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KDM7A

gene
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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

FieldValue
HGNC IDHGNC:22224
Approved symbolKDM7A
Namelysine demethylase 7A
Location7q34
Locus typegene with protein product
StatusApproved
AliasesKIAA1718
Ensembl geneENSG00000006459
Ensembl biotypeprotein_coding
OMIM619640
Entrez80853

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

ExonStartEnd
ENSE00000360316140120442140120529
ENSE00000726713140096555140096763
ENSE00000726716140096899140097047
ENSE00000726724140097545140097642
ENSE00000726740140098879140099033
ENSE00000726787140111095140111184
ENSE00000726816140124621140124783
ENSE00000726821140126637140126823
ENSE00000726824140127442140127583
ENSE00001155866140099899140100023
ENSE00001155872140101951140102160
ENSE00001155888140119113140119219
ENSE00001155914140129493140129653
ENSE00001155929140084746140091188
ENSE00001400748140133539140133656
ENSE00001401297140139105140139190
ENSE00001414149140113491140113582
ENSE00001890729140176744140176983
ENSE00003496538140094056140094138
ENSE00003509046140091804140092077

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:

TissueQTLq-valueSlopeLead variant
Nerve Tibialeqtl5.2e-19+0.457:140095480:A:G
Cells Cultured fibroblastseqtl2.3e-12+0.277:140200979:C:T
Brain Cerebellumeqtl6.1e-12+0.637:140184390:G:T
Brain Caudate basal gangliaeqtl1.5e-11+0.647:140091534:C:A
Brain Nucleus accumbens basal gangliaeqtl1.7e-11+0.817:140085851:A:G
Brain Frontal Cortex BA9eqtl2.2e-11+0.617:140091534:C:A
Brain Cerebellar Hemisphereeqtl5.9e-11+0.427:140085851:A:G
Brain Cortexeqtl2.7e-10+0.727:140091534:C:A
Brain Spinal cord cervical c-1eqtl3.2e-10+0.787:140204606:A:T
Brain Putamen basal gangliaeqtl6.2e-09+0.697:140169572:G:C
Brain Hippocampuseqtl2.7e-08+0.597:140085851:A:G
Brain Substantia nigraeqtl1.3e-07+0.707:140091534:C:A
Pancreaseqtl7.8e-07+0.357:140181053:T:TAAGAA
Pituitaryeqtl1.0e-05+0.367:140181053:T:TAAGAA
Colon Sigmoideqtl7.4e-05+0.237:140185490:A:G
Whole Bloodeqtl3.2e-04-0.067:140305393:G:A
Muscle Skeletaleqtl4.1e-04+0.087:140235772:C:A
Thyroideqtl4.5e-04+0.167:140169572:G:C
Spleeneqtl5.7e-04+0.297:140091534:C:A
Cells EBV-transformed lymphocyteseqtl1.4e-03-0.277:140211329:G:A

FANTOM5 promoters

4 alternative TSS:

Promoter IDTPM avgSamples expressed
865375.53261310
865363.11071018
865382.70101056
865330.3338146

Top tissues by expression

showing 100 of 295 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
cartilage tissueUBERON:000241895.40gold quality
tendon of biceps brachiiUBERON:000818894.67gold quality
gluteal muscleUBERON:000200093.76gold quality
bone marrowUBERON:000237191.74gold quality
upper leg skinUBERON:000426291.72gold quality
epithelium of nasopharynxUBERON:000195191.66gold quality
monocyteCL:000057691.08gold quality
mononuclear cellCL:000084291.06gold quality
leukocyteCL:000073890.63gold quality
cervix squamous epitheliumUBERON:000692290.17silver quality
buccal mucosa cellCL:000233690.10gold quality
skin of hipUBERON:000155489.57gold quality
bone marrow cellCL:000209289.47gold quality
jejunal mucosaUBERON:000039989.36gold quality
trabecular bone tissueUBERON:000248388.94gold quality
squamous epitheliumUBERON:000691488.36gold quality
gastrocnemiusUBERON:000138888.25gold quality
bloodUBERON:000017888.16gold quality
esophagus squamous epitheliumUBERON:000692088.08gold quality
jejunumUBERON:000211588.05gold quality
pharyngeal mucosaUBERON:000035587.86gold quality
tendonUBERON:000004387.65gold quality
mucosa of sigmoid colonUBERON:000499387.31gold quality
spermCL:000001987.30silver quality
muscle of legUBERON:000138387.02gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451187.02gold quality
gingival epitheliumUBERON:000194986.98gold quality
colonic epitheliumUBERON:000039786.84gold quality
colonic mucosaUBERON:000031786.79gold quality
pericardiumUBERON:000240786.73gold quality
skin of legUBERON:000151186.46gold quality
tonsilUBERON:000237286.29gold quality
medial globus pallidusUBERON:000247786.09gold quality
zone of skinUBERON:000001486.03gold quality
oviduct epitheliumUBERON:000480485.99gold quality
gingivaUBERON:000182885.92gold quality
skin of abdomenUBERON:000141685.74gold quality
epithelium of esophagusUBERON:000197685.73gold quality
bronchusUBERON:000218585.71gold quality
bronchial epithelial cellCL:000232885.70gold quality
epithelium of bronchusUBERON:000203185.70gold quality
duodenumUBERON:000211485.61gold quality
rectumUBERON:000105285.49gold quality
cervix epitheliumUBERON:000480185.47gold quality
muscle organUBERON:000163085.21gold quality
male germ cellCL:000001585.09silver quality
body of tongueUBERON:001187684.93gold quality
subcutaneous adipose tissueUBERON:000219084.81gold quality
placentaUBERON:000198784.78gold quality
tongueUBERON:000172384.67gold quality
biceps brachiiUBERON:000150784.58gold quality
secondary oocyteCL:000065584.57gold quality
saphenous veinUBERON:000731884.47gold quality
calcaneal tendonUBERON:000370184.45gold quality
deltoidUBERON:000147684.25silver quality
urethraUBERON:000005784.18gold quality
diaphragmUBERON:000110384.15gold quality
mucosa of paranasal sinusUBERON:000503083.99gold quality
choroid plexus epitheliumUBERON:000391183.97gold quality
nasal cavity mucosaUBERON:000182683.96gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450283.96gold quality
uterine cervixUBERON:000000283.85gold quality
endothelial cellCL:000011583.81gold quality
nasal cavity epitheliumUBERON:000538483.81gold quality
mucosa of stomachUBERON:000119983.71gold quality
right lungUBERON:000216783.63gold quality
synovial jointUBERON:000221783.63gold quality
superior surface of tongueUBERON:000737183.63gold quality
globus pallidusUBERON:000187583.31gold quality
triceps brachiiUBERON:000150983.18gold quality
caecumUBERON:000115383.16gold quality
epithelium of mammary glandUBERON:000324483.15gold quality
connective tissueUBERON:000238483.13gold quality
thoracic mammary glandUBERON:000520083.07gold quality
mammary glandUBERON:000191183.05gold quality
vermiform appendixUBERON:000115482.89gold quality
adipose tissueUBERON:000101382.82gold quality
minor salivary glandUBERON:000183082.81gold quality
transverse colonUBERON:000115782.77gold quality
mucosa of urinary bladderUBERON:000125982.73gold quality
esophagus mucosaUBERON:000246982.70gold quality
mouth mucosaUBERON:000372982.70gold quality
vena cavaUBERON:000408782.66gold quality
large intestineUBERON:000005982.61gold quality
endometriumUBERON:000129582.59gold quality
olfactory segment of nasal mucosaUBERON:000538682.57gold quality
pylorusUBERON:000116682.52gold quality
mammary ductUBERON:000176582.49gold quality
intestineUBERON:000016082.44gold quality
hindlimb stylopod muscleUBERON:000425282.39gold quality
colonUBERON:000115582.38gold quality
tibialis anteriorUBERON:000138582.22gold quality
nippleUBERON:000203082.11gold quality
small intestineUBERON:000210882.06gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047382.01gold quality
cauda epididymisUBERON:000436081.99gold quality
lower lobe of lungUBERON:000894981.86gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099181.84gold quality
granulocyteCL:000009481.82gold quality
lower esophagus mucosaUBERON:003583481.78gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-CURD-10no478.17
E-ANND-3no0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Cerebral cortextissue29.9high
Occipital cortextissue29.9
Somatosensory cortextissue28.8
Superior colliculitissue26.6
Olfactory bulbtissue25.5
Thalamustissue24.8
Motor cortextissue21.4
Midbraintissue20.8
Hippocampal formationtissue20.2
Entorhinal cortextissue20.2
Retrosplenial and cingulate cortextissue19.7
Ponstissue19.5
Spinal cordtissue19.3
Temporal cortextissue19.3
Prefrontal cortextissue19.0
Putamentissue19.0
Cerebellumtissue18.9medium
Retrosplenial cortextissue18.4
Insular cortextissue16.7
Medulla oblongatatissue16.2
Substantia nigratissue16.1
Corpus callosumtissue15.8
Bone marrowtissue15.5high
Basal gangliatissue14.9medium
Ventral forebraintissue14.9
Caudate putamentissue14.0
Periaqueductal graytissue13.3
Hypothalamustissue12.7
Amygdalatissue12.6
Tonguetissue12.3
Septumtissue12.3
Frontal cortextissue11.0
Cervixtissue9.0high
Stomach 1tissue8.8low
Rectumtissue8.8high
Placentatissue8.6high
Colontissue7.9high
Small intestinetissue7.8high
Duodenumtissue7.7high
Tonsiltissue7.5high
Hippocampustissue7.4high
Postcentral gyrustissue7.3
Testistissue7.2low
Choroid plexustissue6.7
Lymph nodetissue6.5low
Esophagustissue6.5high
Appendixtissue6.5high
Endometrium 1tissue6.2low
Livertissue6.2high
Thymustissue6.2
Adipose tissuetissue6.1low
Locus coeruleustissue6.0
Retinatissue5.4
Urinary bladdertissue5.4high
Nucleus accumbenstissue5.4
Spleentissue5.3medium
Lungtissue4.5medium
Skin 1tissue4.3high
Gallbladdertissue4.3high
Pancreastissue4.2medium

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:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-8485100.0077.574731
HSA-MIR-3163100.0077.238605
HSA-MIR-5692A100.0074.406850
HSA-MIR-3646100.0073.565283
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-513A-5P100.0069.772465
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-656-3P100.0072.152788
HSA-MIR-4476100.0068.182030
HSA-MIR-6876-5P100.0067.682126
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-432-3P100.0067.86705
HSA-MIR-4682100.0068.891258
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-4455100.0065.481587
HSA-MIR-4673100.0066.641490
HSA-MIR-3162-3P100.0065.37363
HSA-MIR-4481100.0066.421669
HSA-MIR-188-3P100.0068.761240

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 / expo/eConstrained
7:140,091,097–140,111,155512 / 576.60.89no
7:140,111,156–140,113,5040 / 16.60.00yes (p 4.6e-05)
7:140,113,505–140,176,751318 / 453.10.70no
7:140,176,752–140,176,937112 / 96.21.16no

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

OrganismSymbolGene ID
danio_reriokdm7aaENSDARG00000018111
danio_reriokdm7abENSDARG00000018559
mus_musculusKdm7aENSMUSG00000042599
rattus_norvegicusKdm7aENSRNOG00000052445
caenorhabditis_elegansWBGENE00005013
caenorhabditis_elegansWBGENE00017920

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 morphology1
abnormal hair follicle morphology1
abnormal sebaceous gland morphology1
abnormal tail morphology1
vertebral transformation1
decreased osteoclast cell number1
increased osteoblast cell number1
decreased bone resorption1
abnormal osteoclast differentiation1
abnormal hair follicle bulge morphology1
increased bone mineral content1
increased bone trabecula number1
increased trabecular bone mass1
increased trabecular bone volume1
abnormal fat cell differentiation1
enhanced osteoblast differentiation1
decreased bone trabecular spacing1
increased bone ossification1
increased bone mineralization1
decreased tumor necrosis factor (ligand) superfamily member 11 level1
decreased bone marrow adipose tissue amount1

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.

OrganismUniProtIdentityMethod
Oryza sativa Indica GroupA2Y0Q2100.0%Diamond
Oryza sativa Japonica GroupQ6Z7F4100.0%Diamond
Cryptococcus deneoformans JEC21P0CO4097.4%Diamond
Cryptococcus deneoformans B-3501AP0CO4197.4%Diamond
Bos taurusQ5EA2895.3%Diamond
Arabidopsis thalianaQ9FFF586.8%Diamond
Medicago sativaQ4035979.2%Diamond
Dicentrarchus labraxE6ZGB478.2%Diamond
Xenopus laevisQ640I973.8%Diamond
Xenopus tropicalisQ08D3569.2%Diamond
Caenorhabditis briggsaeQ60V6766.8%Diamond
Aspergillus nidulans FGSC A4Q5AW7564.6%Diamond
Aspergillus fumigatus Af293Q4WHB764.5%Diamond
Drosophila melanogasterQ9W0T160.8%Diamond
Schizosaccharomyces pombe 972h-O7450853.1%Diamond
Nakaseomyces glabratus CBS 138Q6FPL652.2%Diamond
Candida albicans SC5314Q5A84750.2%Diamond
Debaryomyces hansenii CBS767Q6BXJ450.2%Diamond
Kluyveromyces lactis NRRL Y-1140Q6CIC949.9%Diamond
Yarrowia lipolytica CLIB122Q6C42343.0%Diamond
Mycosarcoma maydisQ4P5U142.0%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).

SymbolTypeEntrez
KDM7A-DTncRNA100134229
PARP12protein-coding64761
TBXAS1protein-coding6916

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 IDNamesCanonical?
Q6ZMT4-11yes
Q6ZMT4-22

RefSeq proteins (1): NP_085150* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001965Znf_PHDDomain
IPR003347JmjC_domDomain
IPR011011Znf_FYVE_PHDHomologous_superfamily
IPR013083Znf_RING/FYVE/PHDHomologous_superfamily
IPR019786Zinc_finger_PHD-type_CSConserved_site
IPR019787Znf_PHD-fingerDomain
IPR041070JHDDomain
IPR050690JHDM1_Histone_DemethylaseFamily

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.

SubstrateKm (mM)Measurements
[HISTONE H3]-N6,N6-DIMETHYL-L-LYSINE90.106–0.10612
[HISTONE H3]-N6-METHYL-L-LYSINE90.095–0.09522

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:

PDBTitleMethodResolution (Å)
3KV9Structure of KIAA1718 Jumonji domainX-RAY DIFFRACTION2.29
3KV5Structure of KIAA1718, human Jumonji demethylase, in complex with N-oxalylglycineX-RAY DIFFRACTION2.39
3U78E67-2 selectively inhibits KIAA1718, a human histone H3 lysine 9 Jumonji demethylaseX-RAY DIFFRACTION2.69
3KVBStructure of KIAA1718 Jumonji domain in complex with N-oxalylglycineX-RAY DIFFRACTION2.69
3KVAStructure of KIAA1718 Jumonji domain in complex with alpha-ketoglutarateX-RAY DIFFRACTION2.79
3KV6Structure of KIAA1718, human Jumonji demethylase, in complex with alpha-ketoglutarateX-RAY DIFFRACTION2.89

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6ZMT4-F166.800.47

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)

PositionRole
279substrate
282Fe cation
284Fe cation
299substrate
354Fe cation

Post-translational modifications (1)

TypePositions
Phosphoserine604

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:

IDPathwayEvidence
R-HSA-6802952Signaling by BRAF and RAF1 fusions ⚕curated
R-HSA-3214842HDMs demethylate histonescurated
R-HSA-1643685Disease ⚕—
R-HSA-5663202Diseases of signal transduction by growth factor receptors and second messengers ⚕—
R-HSA-6802957Oncogenic MAPK signaling ⚕—
R-HSA-3247509Chromatin modifying enzymes—
R-HSA-4839726Chromatin 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:

CategoryPathways
Chromatin modifying enzymes1
Oncogenic MAPK signaling1
Chromatin organization1
Disease1
Diseases of signal transduction by growth factor receptors and second messengers1

GO top-level categories

28 GO namespaces:

CategoryTerms
2-oxoglutarate-dependent dioxygenase activity4
histone H3 demethylase activity3
regulation of DNA-templated transcription2
animal gross anatomical part developmental process2
transition metal ion binding2
nuclear lumen2
chromatin organization1
gene expression1
RNA biosynthetic process1
transcription by RNA polymerase II1
brain development1
DNA-templated transcription1
positive regulation of RNA biosynthetic process1
cellular component organization1
system development1
transcription regulator activity1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen1
dioxygenase activity1
protein demethylase activity1
histone modifying activity1
histone H4 demethylase activity1
histone H3K9 demethylase activity1
catalytic activity1
cation binding1
oxidoreductase activity1
intracellular membrane-bounded organelle1
cellular anatomical structure1
intracellular membraneless organelle1

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 termNSEvidence
2-oxoglutarate-dependent dioxygenase activityMFdirect assay
histone H3K27me2/H3K27me3 demethylase activityMFdirect assay
histone H3K36 demethylase activityMFdirect assay
histone H3K9 demethylase activityMFdirect assay
histone H3K9me/H3K9me2 demethylase activityMFdirect assay
histone H4K20 demethylase activityMFdirect assay
iron ion bindingMFdirect assay
zinc ion bindingMFdirect assay

Protein interactions and networks

STRING

showing 15 of 731 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
KDM7AKDM4AO75164679
KDM7AKDM6BO15054642
KDM7AKDM5AP29375618
KDM7AJMJD1CQ15652614
KDM7AKDM6AO15550610
KDM7AKDM4CQ9H3R0602
KDM7AKDM3AQ9Y4C1602
KDM7AKDM4BO94953601
KDM7AKDM5BQ9UGL1598
KDM7AKDM3BQ7LBC6597
KDM7AKDM4DQ6B0I6582
KDM7AKDM1AO60341565
KDM7AKDM5CP41229555
KDM7AKDM8Q8N371533
KDM7AQ08EI0Q08EI0523

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:

AEffectBMechanism
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):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance91
Likely benign1
Benign0

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)EffectΔscoreSites
7:140094054–140094055donor_loss1.00005
7:140094139–140094140acceptor_loss1.00004
7:140098877–140098878donor_loss1.00002
7:140099034–140099036acceptor_gain1.00003
7:140099034–140099035acceptor_loss1.00002
7:140099039acceptor_gain1.0000
7:140099902donor_gain1.0000
7:140101989donor_gain1.0000
7:140111093–140111094donor_loss1.00005
7:140111191acceptor_gain1.0000

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:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
M5290.9860.999
M91890.9300.996
M73890.8930.993
M27290.8600.997
M38490.8390.995
H28280.9991.000
D28480.9991.000
D28080.9981.000
H6380.9970.999
F28580.9961.000
N36880.9961.000
H35480.9950.999
S22780.9931.000
F39480.9931.000
F5180.9901.000
D19680.9900.998
F23080.9881.000
F30180.9880.999
F28180.9870.999
H37180.9870.997

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

CancerPrognosticp-value
Kidney Renal Clear Cell Carcinoma (TCGA)favorable1.44e-05
Kidney Renal Clear Cell Carcinoma (validation)favorable0.000151
Lung Squamous Cell Carcinoma (validation)favorable0.000271

Disease associations

OMIM: gene MIM:619640 | disease phenotypes:

GenCC curated gene-disease

1 curated gene-disease records:

DiseaseClassificationInheritanceRecords
cerebral palsyLimitedAutosomal dominant

Mondo (1): cerebral palsy (MONDO:0006497)

GWAS associations

5 associations:

StudyTraitp-value
GCST90002400_230Plateletcrit8e-22
GCST90002402_383Platelet count9e-14
GCST90002402_384Platelet count4e-11
GCST004607_154Plateletcrit1e-9
GCST90002400_231Plateletcrit3e-9

EFO canonical traits (from GWAS)

2 canonical traits:

EFO IDTrait name
EFO:0007985platelet crit
EFO:0004309platelet count

MeSH disease descriptors

1 disease descriptors:

DescriptorNameTree numbers
D002547Cerebral PalsyC10.228.140.140.254

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:

MoleculeNamePhasePatents
CHEMBL633AMIODARONE430,023

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:

LigandActionAffinityParameter
daminozideInhibition5.68pIC50

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.

LigandMeasureValue
(2-{4-[(2-butyl-1-benzofuran-3-yl)carbonyl]-2,6-diiodophenoxy}ethyl)diethylamineKI25 nM
CHEMBL4126235IC501700 nM
CHEMBL4130224IC50120000 nM
CHEMBL4126406IC50126000 nM
CHEMBL4127515IC50221000 nM
CHEMBL4129980IC50240000 nM
CHEMBL4129830IC50242000 nM
CHEMBL4128613IC50286000 nM
WAG-003IC50307000 nM
CHEMBL4127792IC50377000 nM
CHEMBL4126135IC50386000 nM
WAG-005IC50390000 nM
CHEMBL4126951IC50397000 nM
CHEMBL4127094IC50496000 nM
CHEMBL4128152IC50697000 nM

ChEMBL bioactivities

6 potent at pChembl≥5 of 15 total, top 6 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
6.72IC50190nMCHEMBL5723343
6.70IC50200nMCHEMBL2424812
5.80IC501600nMCHEMBL1229308
5.72IC501900nMCHEMBL4126235
5.68IC502100nMCHEMBL2164243
5.25IC505600nMCHEMBL4126406

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.

CompoundAssayTypeValueUnit
3-[9-cyclopropylnonanoyl(hydroxy)amino]propanoic acid770453: Inhibition of KDM7A (unknown origin) using K27me2 peptide as substrate by MALDI assayic500.2000uM
3-[9-(dimethylamino)nonanoyl-hydroxyamino]propanoic acid770453: Inhibition of KDM7A (unknown origin) using K27me2 peptide as substrate by MALDI assayic501.6000uM
[(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]-trimethylazanium1496240: 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 assayic501.9000uM
4-(2,2-dimethylhydrazinyl)-4-oxobutanoic acid698699: Inhibition of human KDM7A catalytic domain expressed in Escherichia coli by MALDI assayic502.1000uM
trimethyl-[3-[4-(2-methyl-1-benzofuran-3-carbonyl)phenoxy]propyl]azanium iodide1496244: 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 assayic505.6000uM

CTD chemical–gene interactions

66 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases expression, increases methylation3
Cyclosporineincreases expression3
sodium arsenitedecreases expression, increases expression2
didecyldimethylammoniumincreases expression2
(+)-JQ1 compoundincreases expression2
Acetaminophenincreases expression2
Benzo(a)pyrenedecreases expression2
Folic Acidaffects cotreatment, increases expression2
Nickelincreases expression2
Phenylmercuric Acetateaffects cotreatment, decreases expression2
Tetrachlorodibenzodioxindecreases expression2
Cadmium Chlorideincreases expression2
aristolochic acid Idecreases expression1
GSK-J4increases expression1
FR900359increases phosphorylation1
TAK-243increases sumoylation1
sotorasibaffects cotreatment, decreases expression1
alpha phellandreneincreases expression1
bisphenol Adecreases methylation1
arseniteaffects binding, decreases reaction1
mono-(2-ethylhexyl)phthalateincreases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
nickel chlorideincreases expression1
benzo(e)pyreneincreases methylation1
S-(1,2-dichlorovinyl)cysteineincreases expression1
di-n-butylphosphoric acidaffects expression1
perfluoro-n-nonanoic acidincreases expression1
entinostatdecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
abrineincreases expression1

ChEMBL screening assays

10 unique, capped per target: 9 binding, 1 functional

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL2167521BindingInhibition of human KDM7A catalytic domain expressed in Escherichia coli by MALDI assayPlant growth regulator daminozide is a selective inhibitor of human KDM2/7 histone demethylases. — *J Med Chem*
CHEMBL5723316FunctionalAffinity Biochemical interaction: (AlphaScreen) EUB0002790a JHDM1DAffinity Biochemical Literature for EUbOPEN Chemogenomic Library

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_B1G6Abcam A-549 KDM7A KO 2Cancer cell lineMale
CVCL_B2NPAbcam A-549 KDM7A KO 1Cancer cell lineMale
CVCL_SU53HAP1 KDM7A (-) 1Cancer cell lineMale
CVCL_SU54HAP1 KDM7A (-) 2Cancer cell lineMale

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 300 trials:

NCTPhaseStatusTitle
NCT00154830Phase 4COMPLETEDAlterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children
NCT00432055Phase 4COMPLETEDEffects of Botulinum Toxin Type A in Adults With Cerebral Palsy
NCT00549471Phase 4TERMINATEDImprovement After Botulinum Toxin Injections to the Arms in Children With Cerebral Palsy
NCT00752934Phase 4TERMINATEDDoes Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes?
NCT00964639Phase 4COMPLETEDPostoperative Pain in Children With Cerebral Palsy After Pelvic and Femoral Osteotomies
NCT01386255Phase 4WITHDRAWNPlacebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy
NCT02546999Phase 4COMPLETEDDoes Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy?
NCT02633241Phase 4COMPLETEDA Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging
NCT03117322Phase 4COMPLETEDSynbiotic, Prebiotics and Probiotics in Children With Cerebral Palsy and Constipation
NCT03648658Phase 4UNKNOWNParacetamol Study in Patients With Low Muscle Mass
NCT04074265Phase 4COMPLETEDPeri-operative Use of a Pain Injection in Pediatric Patients With Cerebral Palsy
NCT04273737Phase 4TERMINATEDAmantadine in Treating Cognitive & Motor Impairments in Adolescents and Adults With Cerebral Palsy
NCT04523935Phase 4COMPLETEDExcessive Crying in Children With Cerebral Palsy and Communication Deficits
NCT05887765Phase 4COMPLETEDEffect of Systematic Dexamethasone on the Duration of Popliteal Nerve Block for Anesthesia After Pediatric Ankle Surgery
NCT06176430Phase 4UNKNOWNComparison of Twice Weekly Versus Daily Iron Therapy in Treating Anemia in Children With Cerebral Palsy
NCT06189781Phase 4RECRUITINGPain Injection Versus Epidural Anesthesia for Hip Surgery in Pediatric Patients With Cerebral Palsy
NCT00014989Phase 3COMPLETEDBeneficial Effects of Antenatal Magnesium Sulfate (BEAM Trial)
NCT00065949Phase 3UNKNOWNMagnesium Sulfate to Prevent Brain Injury in Premature Infants
NCT00367068Phase 3COMPLETEDDutch National ITB Study in Children With Cerebral Palsy
NCT00491894Phase 3COMPLETEDSafety 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
NCT00632528Phase 3COMPLETEDMEOPA to Improve Physical Therapy Results After Multilevel Surgery
NCT00822029Phase 3TERMINATEDUse of Oral Bisphosphonates in the Treatment of Osteoporosis of Non-walking Children With Cerebral Palsy
NCT00922077Phase 3COMPLETEDIndividualized Neurodevelopmental Treatment
NCT01249417Phase 3COMPLETEDDysport® Pediatric Lower Limb Spasticity Study
NCT01251380Phase 3COMPLETEDDysport® Pediatric Lower Limb Spasticity Follow-on Study
NCT01437644Phase 3COMPLETEDThe Post-Operative Pain in Cerebral Palsy (POPPIES) Trial
NCT01492608Phase 3COMPLETEDMagnesium Sulphate for Preterm Birth (MASP Study)
NCT01603602Phase 3COMPLETEDBOTOX® Treatment in Pediatric Upper Limb Spasticity
NCT01603615Phase 3COMPLETEDBOTOX® Open-Label Treatment in Pediatric Upper Limb Spasticity
NCT01603628Phase 3COMPLETEDBOTOX® Treatment in Pediatric Lower Limb Spasticity
NCT01603641Phase 3COMPLETEDBOTOX® Open-Label Treatment in Pediatric Lower Limb Spasticity
NCT01633736Phase 3UNKNOWNTargeted Hip Strength Training in Children With Cerebral Palsy (CP)
NCT01898520Phase 3COMPLETEDA Safety, Efficacy and Tolerability Study of Sativex for the Treatment of Spasticity in Children Aged 8 to 18 Years
NCT01929434Phase 3COMPLETEDEfficacy of Stem Cell Transplantation Compared to Rehabilitation Treatment of Patients With Cerebral Paralysis
NCT02002884Phase 3COMPLETEDDose-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
NCT02270736Phase 3COMPLETEDClinical 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
NCT02839785Phase 3TERMINATEDAnalgesia and Physiotherapy in Children With Cerebral Palsy (ANTALKINECP)
NCT03110341Phase 3UNKNOWNEffect of Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome
NCT03302871Phase 3COMPLETEDIntegrated Management Enhances Functional Gains in Children With Cerebral Palsy Treated by BoNT-A
NCT03306212Phase 3COMPLETEDEfficacy of Intermittent Serial Casting on Spastic Wrist Flexion Deformity
NCT03469999Phase 3COMPLETEDEffect of Dysport Injections on Energy Expenditure and Walking Efficiency in Children With Cerebral Palsy
NCT03472261Phase 3COMPLETEDIntegrated Management of Pronation Deformity in Cerebral Palsy
NCT03616067Phase 3TERMINATEDEvaluation of the Efficacy of the Injection of Botulinum Toxin A vs Scopolamine Patches in the Treatment of Drooling in Children With Cerebral Palsy
NCT05206513Phase 3COMPLETEDStudy to Assess the Efficacy, Safety, and Tolerability of Valbenazine for the Treatment of Dyskinesia Due to Cerebral Palsy
NCT06128616Phase 3UNKNOWNEfficacy of Extracorporeal Shock Wave Therapy in Children With Cerebral Palsy
NCT06840158Phase 3COMPLETEDDouble-blind Comparative Randomized Multicenter
NCT07524972Phase 3RECRUITINGAntenatal Magnesium Sulphate in High-Risk Preterm Patients
NCT07672158Phase 3NOT_YET_RECRUITINGTranexamic Acid to Reduce Blood Loss After Varus Derotation Osteotomy
NCT00060957Phase 2COMPLETEDBotulinum Toxin (BOTOX) for Cerebral Palsy
NCT00061139Phase 2UNKNOWNConstraint-Based Therapy to Improve Motor Function in Children With Cerebral Palsy
NCT00114075Phase 2COMPLETEDEffects of Walking Analysis on Surgical Outcomes
NCT00221247Phase 2COMPLETEDAcupuncture as Complementary Therapy for Cerebral Palsy
NCT00221611Phase 2COMPLETEDIntrathecal Administration of Baclofen (ITB) to Cerebral Palsy Patients With Therapy-Resistant Spasticity
NCT00295295Phase 2COMPLETEDVibration Intervention to Improve Bone and Muscle in Children With Cerebral Palsy
NCT00413946Phase 2COMPLETEDDoes Erythropoietin Improve Outcome in Very Preterm Infants?
NCT00455637Phase 2TERMINATEDWhich is the Best Dose of Dysport in Helping With Hip Pain for Children With Cerebral Palsy?
NCT00467207Phase 2COMPLETEDIntensive Strength Training in Children With Cerebral Palsy - Effect on Hand Function
NCT01028833Phase 2COMPLETEDEffects of Power Mobility on Young Children With Severe Motor Impairments
NCT01115998Phase 2COMPLETEDEffect of Power Wheelchairs on the Development and Function of Young Children With Severe Physical Disabilities
NCT01147653Phase 2COMPLETEDA 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.

  • 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