ZC3H4
gene geneOn this page
Also known as KIAA1064
Summary
ZC3H4 (zinc finger CCCH-type containing 4, HGNC:17808) is a protein-coding gene on chromosome 19q13.32, encoding Zinc finger CCCH domain-containing protein 4 (Q9UPT8). RNA-binding protein that suppresses transcription of long non-coding RNAs (lncRNAs).
This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation.
Source: NCBI Gene 23211 — RefSeq curated summary.
At a glance
- GWAS associations: 50
- Clinical variants (ClinVar): 274 total
- MANE Select transcript:
NM_015168
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17808 |
| Approved symbol | ZC3H4 |
| Name | zinc finger CCCH-type containing 4 |
| Location | 19q13.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1064 |
| Ensembl gene | ENSG00000130749 |
| Ensembl biotype | protein_coding |
| OMIM | 619498 |
| Entrez | 23211 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 2 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000253048, ENST00000594019, ENST00000595341, ENST00000597069, ENST00000601973
RefSeq mRNA: 1 — MANE Select: NM_015168
NM_015168
CCDS: CCDS42582
Canonical transcript exons
ENST00000253048 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000895977 | 47069092 | 47069343 |
| ENSE00000895978 | 47071778 | 47072121 |
| ENSE00000895980 | 47072352 | 47072713 |
| ENSE00000895983 | 47081513 | 47081622 |
| ENSE00000895985 | 47082184 | 47082295 |
| ENSE00000895987 | 47084345 | 47084455 |
| ENSE00000895989 | 47085056 | 47085195 |
| ENSE00001207487 | 47112424 | 47112589 |
| ENSE00001207490 | 47113720 | 47113776 |
| ENSE00001207496 | 47086384 | 47086538 |
| ENSE00003120223 | 47064187 | 47067869 |
| ENSE00003504603 | 47085318 | 47085414 |
| ENSE00003542007 | 47094389 | 47094608 |
| ENSE00003598986 | 47089967 | 47090189 |
| ENSE00003673605 | 47093970 | 47094080 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 96.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.6417 / max 469.7928, expressed in 1825 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 181721 | 23.1769 | 1819 |
| 181727 | 6.8494 | 1712 |
| 181720 | 4.2014 | 1509 |
| 181726 | 2.4706 | 833 |
| 181719 | 1.6301 | 911 |
| 208875 | 0.7390 | 444 |
| 181725 | 0.5525 | 284 |
| 181716 | 0.0123 | 5 |
| 181715 | 0.0052 | 1 |
| 181714 | 0.0043 | 1 |
Top tissues by expression
297 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 96.86 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 95.63 | gold quality |
| pancreatic ductal cell | CL:0002079 | 95.29 | silver quality |
| inferior olivary complex | UBERON:0002127 | 93.97 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 93.72 | gold quality |
| mammary duct | UBERON:0001765 | 93.64 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 93.60 | gold quality |
| buccal mucosa cell | CL:0002336 | 92.98 | gold quality |
| parotid gland | UBERON:0001831 | 92.72 | gold quality |
| adult organism | UBERON:0007023 | 92.64 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 92.37 | gold quality |
| visceral pleura | UBERON:0002401 | 92.37 | gold quality |
| oviduct epithelium | UBERON:0004804 | 92.36 | gold quality |
| parietal pleura | UBERON:0002400 | 92.19 | gold quality |
| pleura | UBERON:0000977 | 91.84 | gold quality |
| medial globus pallidus | UBERON:0002477 | 91.60 | gold quality |
| cauda epididymis | UBERON:0004360 | 91.43 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 90.94 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 90.78 | gold quality |
| globus pallidus | UBERON:0001875 | 90.72 | gold quality |
| hair follicle | UBERON:0002073 | 90.70 | gold quality |
| seminal vesicle | UBERON:0000998 | 90.61 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 90.50 | gold quality |
| squamous epithelium | UBERON:0006914 | 90.44 | gold quality |
| caput epididymis | UBERON:0004358 | 90.33 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 90.31 | gold quality |
| penis | UBERON:0000989 | 90.21 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 89.89 | gold quality |
| oral cavity | UBERON:0000167 | 89.71 | gold quality |
| nipple | UBERON:0002030 | 89.67 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7037 | yes | 95.65 |
| E-ANND-3 | yes | 6.10 |
| E-GEOD-124858 | no | 197.35 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
128 targeting ZC3H4, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| 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-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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-219A-5P | 99.91 | 73.36 | 735 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
Literature-anchored findings (GeneRIF, showing 4)
- A first exon termination checkpoint preferentially suppresses extragenic transcription. (PMID:33767452)
- ZC3H4 controls termination of extragenic transcription in human and mouse cells. Cells depleted of ZC3H4 show greatly enhanced synthesis of long and spliced extragenic transcripts. (PMID:33767452)
- ZC3H4 restricts non-coding transcription in human cells. (PMID:33913806)
- ZWC complex-mediated SPT5 phosphorylation suppresses divergent antisense RNA transcription at active gene promoters. (PMID:35325203)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zc3h4 | ENSDARG00000078355 |
| mus_musculus | Zc3h4 | ENSMUSG00000059273 |
| rattus_norvegicus | Zc3h4 | ENSRNOG00000015229 |
Paralogs (2): ZC3H8 (ENSG00000144161), ZC3H6 (ENSG00000188177)
Protein
Protein identifiers
Zinc finger CCCH domain-containing protein 4 — Q9UPT8 (reviewed: Q9UPT8)
All UniProt accessions (2): Q9UPT8, M0QY97
UniProt curated annotations — full annotation on UniProt →
Function. RNA-binding protein that suppresses transcription of long non-coding RNAs (lncRNAs). LncRNAs are defined as transcripts more than 200 nucleotides that are not translated into protein. Together with WDR82, part of a transcription termination checkpoint that promotes transcription termination of lncRNAs and their subsequent degradation by the exosome. The transcription termination checkpoint is activated by the inefficiently spliced first exon of lncRNAs.
Subunit / interactions. Interacts with WDR82.
Subcellular location. Chromosome.
Similarity. Belongs to the suppressor of sable family.
RefSeq proteins (1): NP_055983* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000571 | Znf_CCCH | Domain |
| IPR036855 | Znf_CCCH_sf | Homologous_superfamily |
| IPR041367 | Znf-CCCH_4 | Domain |
| IPR045124 | Su(sable)-like | Family |
| IPR054361 | Znf-CCCH_ZC3H4/6/8 | Domain |
Pfam: PF00642, PF18044, PF22623
UniProt features (72 total): compositionally biased region 33, modified residue 20, region of interest 5, zinc finger region 3, sequence variant 3, coiled-coil region 2, strand 2, helix 2, chain 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2CQE | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UPT8-F1 | 51.04 | 0.01 |
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 (20): 72, 75, 76, 92, 94, 155, 601, 807, 808, 904, 907, 908, 1104, 1106, 1108, 1110, 1114, 1118, 1269, 1275
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9930044 | Nuclear RNA decay |
MSigDB gene sets: 0 (showing top):
GO Biological Process (6): DNA-templated transcription termination (GO:0006353), negative regulation of DNA-templated transcription, elongation (GO:0032785), nuclear RNA surveillance (GO:0071027), lncRNA catabolic process (GO:0110064), negative regulation of lncRNA transcription (GO:0140744), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (6): RNA binding (GO:0003723), zinc ion binding (GO:0008270), promoter-specific chromatin binding (GO:1990841), chromatin binding (GO:0003682), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 2 |
| negative regulation of DNA-templated transcription | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| RNA biosynthetic process | 1 |
| DNA-templated transcription elongation | 1 |
| regulation of DNA-templated transcription elongation | 1 |
| nucleus | 1 |
| RNA surveillance | 1 |
| RNA catabolic process | 1 |
| lncRNA transcription | 1 |
| regulation of lncRNA transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| chromatin binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1606 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZC3H4 | WDR82 | Q6UXN9 | 660 |
| ZC3H4 | METTL5 | Q9NRN9 | 586 |
| ZC3H4 | TMEM160 | Q9NX00 | 579 |
| ZC3H4 | WTAP | Q15007 | 522 |
| ZC3H4 | VIRMA | Q69YN4 | 522 |
| ZC3H4 | ZC3H13 | Q5T200 | 519 |
| ZC3H4 | NCBP3 | Q53F19 | 514 |
| ZC3H4 | YAE1 | Q9NRH1 | 504 |
| ZC3H4 | METTL14 | Q9HCE5 | 490 |
| ZC3H4 | RBM15 | Q96T37 | 489 |
| ZC3H4 | METTL3 | Q86U44 | 488 |
| ZC3H4 | QPCTL | Q9NXS2 | 479 |
| ZC3H4 | MED13L | Q71F56 | 465 |
| ZC3H4 | WDFY3 | Q8IZQ1 | 445 |
| ZC3H4 | V9GXZ4 | V9GXZ4 | 432 |
IntAct
138 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED21 | MED19 | psi-mi:“MI:0914”(association) | 0.880 |
| CAPN1 | CAPNS1 | psi-mi:“MI:0914”(association) | 0.840 |
| CSNK2B | NMT2 | psi-mi:“MI:0914”(association) | 0.660 |
| CSNK2A2 | PES1 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPS27 | MRPS14 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPS6 | STAT5A | psi-mi:“MI:0914”(association) | 0.550 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| RSPH9 | EIF3H | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR82 | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| ZFP41 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| CAPN13 | SFSWAP | psi-mi:“MI:0914”(association) | 0.530 |
| EZH1 | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS17 | MRPS22 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18C | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS26 | MRPS10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | MRPS12 | psi-mi:“MI:0914”(association) | 0.530 |
| NIFK | RSL1D1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL13 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPLP0 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| SRSF3 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| RBM45 | HNRNPDL | psi-mi:“MI:0914”(association) | 0.460 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| ZC3H4 | H2BC21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZC3H4 | HMGN3 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (196): ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS)
ESM2 similar proteins: A0JNI5, A2AJT4, A2AQ19, A4IFB1, B1H1X4, D3ZTQ1, O43290, P35269, Q05519, Q12872, Q13435, Q3THK3, Q3UJB0, Q3UQU0, Q3USH5, Q4V7C9, Q53F19, Q568R1, Q5EA53, Q5HZB6, Q5PQQ2, Q5R539, Q5RAD5, Q5XIW8, Q5ZM19, Q66I22, Q6AY96, Q6DDA4, Q6GLZ8, Q6INH5, Q6ZPZ3, Q8BZR9, Q8CFC7, Q8K194, Q8N2M8, Q8N5F7, Q8TF01, Q8VHI6, Q8WVK2, Q923D5
Diamond homologs: P61129, Q6ZPZ3, Q8BYK8, Q8N5P1, Q9JJ48, Q9UPT8, Q9LTS7, P22293
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 194 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 |
|---|---|---|---|
| Maturation of hRSV A proteins | 5 | 29.5× | 2e-05 |
| Mitochondrial translation | 15 | 16.0× | 6e-12 |
| Mitochondrial translation initiation | 15 | 14.8× | 1e-11 |
| Mitochondrial translation elongation | 15 | 14.8× | 1e-11 |
| SARS-CoV-1 modulates host translation machinery | 6 | 14.4× | 8e-05 |
| Mitochondrial ribosome-associated quality control | 15 | 14.3× | 1e-11 |
| Mitochondrial translation termination | 15 | 12.8× | 7e-11 |
| Eukaryotic Translation Initiation | 5 | 12.0× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 15 | 14.6× | 9e-11 |
| negative regulation of translation | 11 | 12.1× | 6e-07 |
| positive regulation of transcription elongation by RNA polymerase II | 7 | 11.8× | 3e-04 |
| cytoplasmic translation | 11 | 11.4× | 8e-07 |
| regulation of alternative mRNA splicing, via spliceosome | 8 | 11.0× | 1e-04 |
| translation | 17 | 9.8× | 8e-10 |
| mRNA processing | 14 | 6.2× | 1e-05 |
| RNA splicing | 12 | 6.0× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
274 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 198 |
| Likely benign | 28 |
| Benign | 24 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2673 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:47067866:TCAC:T | acceptor_gain | 1.0000 |
| 19:47067867:CAC:C | acceptor_gain | 1.0000 |
| 19:47067867:CACC:C | acceptor_gain | 1.0000 |
| 19:47067868:AC:A | acceptor_gain | 1.0000 |
| 19:47067869:CC:C | acceptor_gain | 1.0000 |
| 19:47067869:CCT:C | acceptor_loss | 1.0000 |
| 19:47067870:C:CC | acceptor_gain | 1.0000 |
| 19:47069094:T:A | donor_gain | 1.0000 |
| 19:47069109:T:TA | donor_gain | 1.0000 |
| 19:47072349:CACC:C | donor_loss | 1.0000 |
| 19:47072350:A:T | donor_loss | 1.0000 |
| 19:47072351:C:CA | donor_loss | 1.0000 |
| 19:47072711:CAT:C | acceptor_gain | 1.0000 |
| 19:47072713:TCTG:T | acceptor_loss | 1.0000 |
| 19:47072714:C:CC | acceptor_gain | 1.0000 |
| 19:47072715:T:G | acceptor_loss | 1.0000 |
| 19:47072720:G:C | acceptor_gain | 1.0000 |
| 19:47072720:G:GC | acceptor_gain | 1.0000 |
| 19:47072722:G:C | acceptor_gain | 1.0000 |
| 19:47072722:G:GC | acceptor_gain | 1.0000 |
| 19:47081607:T:C | acceptor_gain | 1.0000 |
| 19:47081610:C:CT | acceptor_gain | 1.0000 |
| 19:47081620:C:CT | acceptor_gain | 1.0000 |
| 19:47081627:A:C | acceptor_gain | 1.0000 |
| 19:47082207:G:C | donor_gain | 1.0000 |
| 19:47084339:CCTTA:C | donor_loss | 1.0000 |
| 19:47084340:CTT:C | donor_loss | 1.0000 |
| 19:47084341:TTA:T | donor_loss | 1.0000 |
| 19:47084342:T:TG | donor_loss | 1.0000 |
| 19:47084343:A:AC | donor_gain | 1.0000 |
AlphaMissense
8511 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:47066365:A:C | F1301L | 1.000 |
| 19:47066365:A:T | F1301L | 1.000 |
| 19:47066367:A:G | F1301L | 1.000 |
| 19:47066384:T:C | D1295G | 1.000 |
| 19:47066386:G:C | F1294L | 1.000 |
| 19:47066386:G:T | F1294L | 1.000 |
| 19:47066388:A:G | F1294L | 1.000 |
| 19:47066395:A:C | F1291L | 1.000 |
| 19:47066395:A:T | F1291L | 1.000 |
| 19:47066396:A:G | F1291S | 1.000 |
| 19:47066397:A:G | F1291L | 1.000 |
| 19:47067333:A:G | W979R | 1.000 |
| 19:47067333:A:T | W979R | 1.000 |
| 19:47067855:A:G | W805R | 1.000 |
| 19:47067855:A:T | W805R | 1.000 |
| 19:47072397:A:C | I586S | 1.000 |
| 19:47072397:A:T | I586N | 1.000 |
| 19:47072402:A:C | F584L | 1.000 |
| 19:47072402:A:T | F584L | 1.000 |
| 19:47072403:A:G | F584S | 1.000 |
| 19:47072404:A:G | F584L | 1.000 |
| 19:47072406:A:G | L583S | 1.000 |
| 19:47072607:A:T | L516H | 1.000 |
| 19:47072611:C:G | G515R | 1.000 |
| 19:47072616:C:T | G513D | 1.000 |
| 19:47072617:C:G | G513R | 1.000 |
| 19:47072634:A:T | L507Q | 1.000 |
| 19:47072643:A:C | I504S | 1.000 |
| 19:47072643:A:G | I504T | 1.000 |
| 19:47072643:A:T | I504N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000018053 (19:47115330 T>C), RS1000034897 (19:47064809 A>C), RS1000102632 (19:47073942 C>T), RS1000106520 (19:47065055 T>C,G), RS1000147515 (19:47111123 C>G,T), RS1000159918 (19:47089119 T>C), RS1000258808 (19:47091808 G>A,T), RS1000294811 (19:47081177 G>A), RS1000295391 (19:47091960 G>A), RS1000384030 (19:47068929 G>C), RS1000387021 (19:47105438 T>C), RS1000484049 (19:47112186 A>G), RS1000542865 (19:47096936 C>T), RS1000576374 (19:47092900 C>A,T), RS1000600009 (19:47076325 G>GCGCA,GCGCACA,GCGCACACA,GCGCACACACGCACA,GCGCGCACA)
Disease associations
OMIM: gene MIM:619498 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
50 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000830_18 | Body mass index | 2.000000e-12 |
| GCST001762_797 | Obesity-related traits | 2.000000e-06 |
| GCST002783_109 | Body mass index | 3.000000e-10 |
| GCST002783_197 | Body mass index | 5.000000e-15 |
| GCST002783_352 | Body mass index | 6.000000e-16 |
| GCST002783_592 | Body mass index | 7.000000e-09 |
| GCST004065_102 | Waist circumference | 8.000000e-08 |
| GCST004065_99 | Waist circumference | 2.000000e-10 |
| GCST004066_97 | Hip circumference | 2.000000e-08 |
| GCST004495_85 | BMI (adjusted for smoking behaviour) | 1.000000e-12 |
| GCST004495_86 | BMI (adjusted for smoking behaviour) | 1.000000e-09 |
| GCST004497_63 | Body mass index (joint analysis main effects and smoking interaction) | 1.000000e-13 |
| GCST004497_64 | Body mass index (joint analysis main effects and smoking interaction) | 4.000000e-11 |
| GCST004498_29 | BMI in smokers | 1.000000e-06 |
| GCST004498_30 | BMI in smokers | 2.000000e-06 |
| GCST004499_78 | BMI in non-smokers | 2.000000e-09 |
| GCST004499_79 | BMI in non-smokers | 4.000000e-07 |
| GCST004557_116 | Body mass index | 7.000000e-08 |
| GCST004557_121 | Body mass index | 2.000000e-09 |
| GCST004557_171 | Body mass index | 3.000000e-07 |
| GCST004557_249 | Body mass index | 3.000000e-09 |
| GCST004558_112 | Body mass index (joint analysis main effects and physical activity interaction) | 8.000000e-07 |
| GCST004558_119 | Body mass index (joint analysis main effects and physical activity interaction) | 1.000000e-09 |
| GCST004558_184 | Body mass index (joint analysis main effects and physical activity interaction) | 5.000000e-07 |
| GCST004558_31 | Body mass index (joint analysis main effects and physical activity interaction) | 2.000000e-09 |
| GCST004559_113 | Body mass index in physically active individuals | 1.000000e-06 |
| GCST004559_3 | Body mass index in physically active individuals | 5.000000e-08 |
| GCST004601_193 | Red blood cell count | 2.000000e-13 |
| GCST004604_43 | Hematocrit | 3.000000e-11 |
| GCST004615_126 | Hemoglobin concentration | 3.000000e-10 |
EFO canonical traits (18, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004730 | hormone measurement |
| EFO:0004318 | smoking behavior |
| EFO:0008002 | physical activity measurement |
| EFO:0004305 | erythrocyte count |
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004341 | body fat distribution |
| EFO:0006781 | coffee consumption measurement |
| EFO:0000195 | metabolic syndrome |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004918 | age at diagnosis |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0007986 | reticulocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cisplatin | decreases expression, affects expression | 3 |
| bisphenol A | decreases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| urushiol | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Ethanol | affects cotreatment, decreases expression, increases abundance | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9VY | Ubigene HEK293 ZC3H4 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.