ZNF107
geneOn this page
Also known as ZFD25smap-7
Summary
ZNF107 (zinc finger protein 107, HGNC:12887) is a protein-coding gene on chromosome 7q11.21, encoding Zinc finger protein 107 (Q9UII5). May be involved in transcriptional regulation.
This gene encodes a protein containing multiple C2H2-type zinc finger regions. Proteins containing zinc fingers may act as transcriptional regulators, but may also have other cellular functions. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 51427 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 129 total
- MANE Select transcript:
NM_001282359
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12887 |
| Approved symbol | ZNF107 |
| Name | zinc finger protein 107 |
| Location | 7q11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZFD25, smap-7 |
| Ensembl gene | ENSG00000196247 |
| Ensembl biotype | protein_coding |
| OMIM | 603989 |
| Entrez | 51427 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 7 protein_coding_CDS_not_defined, 5 protein_coding, 2 nonsense_mediated_decay
ENST00000344930, ENST00000360117, ENST00000395391, ENST00000423627, ENST00000613690, ENST00000620827, ENST00000682671, ENST00000683053, ENST00000683492, ENST00000683656, ENST00000683971, ENST00000684016, ENST00000684494, ENST00000929762
RefSeq mRNA: 6 — MANE Select: NM_001282359
NM_001013746, NM_001282359, NM_001282360, NM_001388025, NM_001388026, NM_016220
CCDS: CCDS5527, CCDS75605, CCDS75606
Canonical transcript exons
ENST00000620827 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001391759 | 64706324 | 64711577 |
| ENSE00003722442 | 64691865 | 64691960 |
| ENSE00003731044 | 64691248 | 64691374 |
| ENSE00003920623 | 64666133 | 64666285 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 84.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.9417 / max 380.5209, expressed in 1638 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 78810 | 10.3842 | 1582 |
| 78811 | 3.3473 | 896 |
| 78809 | 0.2102 | 90 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 84.83 | gold quality |
| oocyte | CL:0000023 | 84.68 | gold quality |
| lymph node | UBERON:0000029 | 82.78 | gold quality |
| ventricular zone | UBERON:0003053 | 81.58 | gold quality |
| tonsil | UBERON:0002372 | 80.92 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.84 | gold quality |
| buccal mucosa cell | CL:0002336 | 80.47 | gold quality |
| ganglionic eminence | UBERON:0004023 | 80.42 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.28 | gold quality |
| adrenal tissue | UBERON:0018303 | 80.09 | gold quality |
| upper leg skin | UBERON:0004262 | 79.84 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 79.23 | gold quality |
| vermiform appendix | UBERON:0001154 | 79.07 | gold quality |
| tibia | UBERON:0000979 | 78.23 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 77.60 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 76.86 | gold quality |
| spleen | UBERON:0002106 | 76.68 | gold quality |
| blood | UBERON:0000178 | 76.51 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 76.51 | gold quality |
| mammary duct | UBERON:0001765 | 76.28 | gold quality |
| caecum | UBERON:0001153 | 76.21 | gold quality |
| gingival epithelium | UBERON:0001949 | 76.17 | gold quality |
| calcaneal tendon | UBERON:0003701 | 75.99 | gold quality |
| bone marrow | UBERON:0002371 | 75.92 | gold quality |
| tendon | UBERON:0000043 | 75.88 | gold quality |
| endometrium | UBERON:0001295 | 75.71 | gold quality |
| embryo | UBERON:0000922 | 75.66 | gold quality |
| bone marrow cell | CL:0002092 | 75.56 | gold quality |
| granulocyte | CL:0000094 | 75.21 | gold quality |
| mammary gland | UBERON:0001911 | 75.01 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7037 | yes | 122.22 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): STAT1
miRNA regulators (miRDB)
156 targeting ZNF107, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-12121 | 99.99 | 66.64 | 255 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
Cross-species orthologs
30 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf646 | ENSDARG00000061424 |
| danio_rerio | si:dkey-154p10.3 | ENSDARG00000068366 |
| danio_rerio | si:dkey-89b17.4 | ENSDARG00000075545 |
| danio_rerio | zgc:66472 | ENSDARG00000075916 |
| danio_rerio | si:ch211-148l7.4 | ENSDARG00000094469 |
| danio_rerio | znf576.1 | ENSDARG00000097819 |
| drosophila_melanogaster | Sry-delta | FBGN0003512 |
| drosophila_melanogaster | az2 | FBGN0025185 |
| drosophila_melanogaster | hang | FBGN0026575 |
| drosophila_melanogaster | CG3032 | FBGN0029928 |
| drosophila_melanogaster | CG2129 | FBGN0030008 |
| drosophila_melanogaster | CG11695 | FBGN0030316 |
| drosophila_melanogaster | CG8944 | FBGN0030680 |
| drosophila_melanogaster | CG7101 | FBGN0030963 |
| drosophila_melanogaster | CG1602 | FBGN0033186 |
| drosophila_melanogaster | CG18011 | FBGN0033491 |
| drosophila_melanogaster | CG12942 | FBGN0033569 |
| drosophila_melanogaster | CG8089 | FBGN0033993 |
| drosophila_melanogaster | indra | FBGN0035213 |
| drosophila_melanogaster | CG10654 | FBGN0036294 |
| drosophila_melanogaster | CG6791 | FBGN0037918 |
| drosophila_melanogaster | CG17803 | FBGN0038547 |
| drosophila_melanogaster | CG12219 | FBGN0043796 |
| drosophila_melanogaster | CG30020 | FBGN0050020 |
| drosophila_melanogaster | pzg | FBGN0259785 |
| drosophila_melanogaster | mld | FBGN0263490 |
| drosophila_melanogaster | zf30C | FBGN0270924 |
| caenorhabditis_elegans | ztf-15 | WBGENE00011066 |
| caenorhabditis_elegans | WBGENE00013734 | |
| caenorhabditis_elegans | WBGENE00015649 |
Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)
Protein
Protein identifiers
Zinc finger protein 107 — Q9UII5 (reviewed: Q9UII5)
Alternative names: Zinc finger protein 588, Zinc finger protein ZFD25
All UniProt accessions (5): Q9UII5, A0A087WYK5, A0A0B4J2G0, A0A8C8KK49, C9JSF9
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Tissue specificity. Expressed in brain, heart, skeletal muscle, kidney and pancreas. Weakly expressed in aorta, liver and lung.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (6): NP_001013768, NP_001269288, NP_001269289, NP_001374954, NP_001374955, NP_057304 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR050331 | Zinc_finger_PRDM4/PRDM1/PRDM14 | Family |
Pfam: PF00096
UniProt features (27 total): zinc finger region 25, chain 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UII5-F1 | 74.23 | 0.03 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 186
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 125 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, MODULE_255, MODULE_317, FISCHER_DREAM_TARGETS, chr7q11, CHEN_HOXA5_TARGETS_9HR_UP, HAMAI_APOPTOSIS_VIA_TRAIL_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, ZWANG_DOWN_BY_2ND_EGF_PULSE, EGFR_UP.V1_DN
GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (4): DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
36 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HOOK2 | ZNF107 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | ZNF107 | psi-mi:“MI:0915”(physical association) | 0.560 |
| U2AF2 | ZNF107 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ECE1 | ZNF107 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HIPK3 | ZNF107 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMAD7 | ZNF107 | psi-mi:“MI:0915”(physical association) | 0.370 |
| APP | ZNF724 | psi-mi:“MI:0914”(association) | 0.350 |
| CDX1 | ZNF724 | psi-mi:“MI:0914”(association) | 0.350 |
| PURG | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF467 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| NOP2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| NOTCH2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| LTBP2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| ANKRD36B | CCDC66 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL36 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ILF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL13A | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ABT1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| GLI4 | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| CBX6 | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| ANOS1 | ZNF724 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL4 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| RPL23A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL9 | NVL | psi-mi:“MI:0914”(association) | 0.350 |
| KLF16 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (36): ZNF107 (Affinity Capture-MS), ZNF107 (Affinity Capture-MS), ZNF107 (Affinity Capture-MS), ZNF107 (Affinity Capture-RNA), ZNF107 (Two-hybrid), ZNF107 (Two-hybrid), ZNF107 (Two-hybrid), ZNF107 (Affinity Capture-MS), ZNF107 (Affinity Capture-MS), ZNF107 (Affinity Capture-MS), ZNF107 (Affinity Capture-MS), ZNF107 (Affinity Capture-MS), ZNF107 (Affinity Capture-MS), ZNF107 (Affinity Capture-MS), ZNF107 (Affinity Capture-MS)
ESM2 similar proteins: A2VDQ7, A6NK75, A6NN14, A6NNF4, A8MQ14, A8MTY0, A8MXY4, B7Z6K7, E9QAG8, O43345, O75290, O75373, O75437, P0CJ79, P10751, P17017, P17019, P17035, P17038, P18749, P35789, P51522, Q03923, Q03938, Q05481, Q14585, Q3SYV7, Q4V348, Q5R5U3, Q5R8X1, Q5R9F0, Q5SXM1, Q6P5C7, Q6ZN08, Q6ZN57, Q6ZR52, Q86V71, Q86XN6, Q8IYB9, Q8N7Q3
Diamond homologs: A0A1W2PQL4, A6NK75, A6NN14, A6NNF4, A6NP11, A8MQ14, A8MTY0, A8MUV8, A8MXY4, B4DX44, B4DXR9, E9PYI1, O14628, O43345, O75290, O75346, O75373, O75437, O95780, P0CB33, P0DKX0, P0DPD5, P16373, P17019, P17038, P21506, P35789, P52736, P52738, P52744, Q03923, Q03924, Q03936, Q03938, Q05481, Q14586, Q14593, Q14929, Q15928, Q3KNS6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 35 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Major pathway of rRNA processing in the nucleolus and cytosol | 5 | 13.4× | 7e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
129 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 97 |
| Likely benign | 13 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
968 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:64666251:C:G | donor_gain | 1.0000 |
| 7:64691242:TTTCA:T | acceptor_loss | 1.0000 |
| 7:64691243:TTCA:T | acceptor_loss | 1.0000 |
| 7:64691244:TCAGG:T | acceptor_loss | 1.0000 |
| 7:64691245:CAG:C | acceptor_loss | 1.0000 |
| 7:64691246:A:AG | acceptor_gain | 1.0000 |
| 7:64691246:AG:A | acceptor_gain | 1.0000 |
| 7:64691247:G:GA | acceptor_gain | 1.0000 |
| 7:64691247:GG:G | acceptor_gain | 1.0000 |
| 7:64691247:GGA:G | acceptor_gain | 1.0000 |
| 7:64691334:G:GT | donor_gain | 1.0000 |
| 7:64691335:A:T | donor_gain | 1.0000 |
| 7:64706322:A:AG | acceptor_gain | 1.0000 |
| 7:64706323:G:GG | acceptor_gain | 1.0000 |
| 7:64666286:GT:G | donor_loss | 0.9900 |
| 7:64666287:T:G | donor_loss | 0.9900 |
| 7:64679176:GACT:G | acceptor_gain | 0.9900 |
| 7:64691247:GGAA:G | acceptor_gain | 0.9900 |
| 7:64691247:GGAAC:G | acceptor_gain | 0.9900 |
| 7:64691373:GG:G | donor_gain | 0.9900 |
| 7:64691374:GG:G | donor_gain | 0.9900 |
| 7:64691374:GGTGA:G | donor_loss | 0.9900 |
| 7:64691375:G:GA | donor_loss | 0.9900 |
| 7:64691375:G:GG | donor_gain | 0.9900 |
| 7:64691376:T:G | donor_loss | 0.9900 |
| 7:64706323:GTA:G | acceptor_gain | 0.9900 |
| 7:64706323:GTAAT:G | acceptor_gain | 0.9900 |
| 7:64666286:G:GG | donor_gain | 0.9800 |
| 7:64666289:A:T | donor_gain | 0.9800 |
| 7:64679170:A:AG | acceptor_gain | 0.9800 |
AlphaMissense
5677 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:64708321:T:C | F673L | 0.983 |
| 7:64708323:T:A | F673L | 0.983 |
| 7:64708323:T:G | F673L | 0.983 |
| 7:64708237:T:C | F645L | 0.982 |
| 7:64708239:T:A | F645L | 0.982 |
| 7:64708239:T:G | F645L | 0.982 |
| 7:64707649:T:C | F449L | 0.981 |
| 7:64707651:T:A | F449L | 0.981 |
| 7:64707651:T:G | F449L | 0.981 |
| 7:64708405:T:C | F701L | 0.977 |
| 7:64708407:T:A | F701L | 0.977 |
| 7:64708407:T:G | F701L | 0.977 |
| 7:64708424:T:C | L707P | 0.971 |
| 7:64708489:T:C | F729L | 0.969 |
| 7:64708491:T:A | F729L | 0.969 |
| 7:64708491:T:G | F729L | 0.969 |
| 7:64707733:T:C | F477L | 0.966 |
| 7:64707735:T:A | F477L | 0.966 |
| 7:64707735:T:G | F477L | 0.966 |
| 7:64707565:T:C | F421L | 0.962 |
| 7:64707567:T:A | F421L | 0.962 |
| 7:64707567:T:G | F421L | 0.962 |
| 7:64707397:T:C | F365L | 0.961 |
| 7:64707399:T:A | F365L | 0.961 |
| 7:64707399:T:G | F365L | 0.961 |
| 7:64707817:T:C | F505L | 0.960 |
| 7:64707819:T:A | F505L | 0.960 |
| 7:64707819:T:G | F505L | 0.960 |
| 7:64708256:T:C | L651P | 0.950 |
| 7:64707668:T:C | L455P | 0.945 |
dbSNP variants (sampled 300 via entrez): RS1000051627 (7:64665365 T>A,G), RS1000055405 (7:64686110 C>T), RS1000068088 (7:64668305 C>G,T), RS1000068303 (7:64700130 A>G), RS1000068714 (7:64708543 C>A,T), RS1000085065 (7:64701897 A>G), RS1000296008 (7:64674976 C>CTT), RS1000426374 (7:64681514 C>T), RS1000483093 (7:64689466 A>T), RS1000542270 (7:64678456 T>A), RS1000610686 (7:64701512 A>G), RS1000659624 (7:64684687 C>T), RS1000661643 (7:64701726 C>G), RS1000698971 (7:64690738 C>T), RS1000727373 (7:64688438 G>A,T)
Disease associations
OMIM: gene MIM:603989 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_1117 | Metabolite levels | 7.000000e-07 |
| GCST011954_3 | White matter hyperintensity volume x hypertension interaction (2df) | 2.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010523 | phosphoglyceric acid measurement |
| EFO:0005665 | white matter hyperintensity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-butenal | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| avobenzone | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Arsenic Trioxide | increases response to substance | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Cadmium | decreases expression | 1 |
| Calcitriol | increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Lead | affects expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hypertensive disorder