ZFP42
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Also known as REX1ZNF754
Summary
ZFP42 (ZFP42 zinc finger protein, HGNC:30949) is a protein-coding gene on chromosome 4q35.2, encoding Zinc finger protein 42 homolog (Q96MM3). Involved in the reprogramming of X-chromosome inactivation during the acquisition of pluripotency.
Enables sequence-specific double-stranded DNA binding activity. Involved in female gonad development and male gonad development. Located in cytoplasm.
Source: NCBI Gene 132625 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 64 total — 1 pathogenic
- Transcription factor: yes — 21 downstream targets (CollecTRI)
- MANE Select transcript:
NM_174900
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30949 |
| Approved symbol | ZFP42 |
| Name | ZFP42 zinc finger protein |
| Location | 4q35.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | REX1, ZNF754 |
| Ensembl gene | ENSG00000179059 |
| Ensembl biotype | protein_coding |
| OMIM | 614572 |
| Entrez | 132625 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 26 protein_coding
ENST00000326866, ENST00000509524, ENST00000618147, ENST00000940024, ENST00000940025, ENST00000940026, ENST00000940027, ENST00000940028, ENST00000940029, ENST00000940030, ENST00000940031, ENST00000940032, ENST00000940033, ENST00000940034, ENST00000940035, ENST00000940036, ENST00000940037, ENST00000940038, ENST00000940039, ENST00000940040, ENST00000940041, ENST00000940042, ENST00000940043, ENST00000940044, ENST00000940045, ENST00000940046
RefSeq mRNA: 2 — MANE Select: NM_174900
NM_001304358, NM_174900
CCDS: CCDS3849
Canonical transcript exons
ENST00000326866 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001515523 | 187999609 | 187999685 |
| ENSE00001515525 | 187999108 | 187999273 |
| ENSE00001515526 | 187995771 | 187995840 |
| ENSE00002020347 | 188002713 | 188005046 |
Expression profiles
Bgee: expression breadth broad, 33 present calls, max score 88.18.
FANTOM5 (CAGE): breadth broad, TPM avg 3.9185 / max 289.9133, expressed in 202 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 50927 | 3.8523 | 200 |
| 50929 | 0.0662 | 32 |
Top tissues by expression
239 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 88.18 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.73 | gold quality |
| amniotic fluid | UBERON:0000173 | 76.58 | gold quality |
| sperm | CL:0000019 | 74.71 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 73.81 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 66.04 | silver quality |
| placenta | UBERON:0001987 | 57.64 | gold quality |
| testis | UBERON:0000473 | 56.25 | gold quality |
| medial globus pallidus | UBERON:0002477 | 55.83 | gold quality |
| right testis | UBERON:0004534 | 55.64 | gold quality |
| left testis | UBERON:0004533 | 54.41 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 54.34 | gold quality |
| cartilage tissue | UBERON:0002418 | 54.23 | silver quality |
| left ventricle myocardium | UBERON:0006566 | 54.23 | gold quality |
| pancreatic ductal cell | CL:0002079 | 54.17 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 53.94 | gold quality |
| kidney epithelium | UBERON:0004819 | 53.93 | gold quality |
| upper arm skin | UBERON:0004263 | 53.52 | gold quality |
| ileal mucosa | UBERON:0000331 | 53.16 | silver quality |
| globus pallidus | UBERON:0001875 | 52.45 | gold quality |
| tibialis anterior | UBERON:0001385 | 52.32 | silver quality |
| upper leg skin | UBERON:0004262 | 51.25 | gold quality |
| ventricular zone | UBERON:0003053 | 51.11 | silver quality |
| myocardium | UBERON:0002349 | 50.25 | gold quality |
| deltoid | UBERON:0001476 | 48.62 | gold quality |
| skin of hip | UBERON:0001554 | 47.17 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 47.03 | gold quality |
| tendon | UBERON:0000043 | 46.99 | gold quality |
| ganglionic eminence | UBERON:0004023 | 46.58 | silver quality |
| quadriceps femoris | UBERON:0001377 | 46.52 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6819 | yes | 411.11 |
| E-MTAB-9388 | yes | 6.51 |
| E-ANND-3 | yes | 4.11 |
| E-MTAB-9801 | no | 2.56 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
21 targets.
| Target | Regulation |
|---|---|
| AKT1 | |
| BDKRB2 | |
| BMP4 | |
| CCNB1 | Activation |
| CCNB2 | |
| DKK1 | |
| DPPA4 | |
| DPPA5 | |
| FGF4 | |
| LEFTY2 | |
| LIN28A | |
| MAP2K3 | Unknown |
| MIR302A | Unknown |
| PIK3R1 | |
| RLIM | |
| SLU7 | |
| SOCS3 | |
| SPARC | |
| THY1 | |
| UTF1 | |
| ZFP42 | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1651.1 | ZFP42 | More than 3 adjacent zinc fingers |
| MA1651.2 | ZFP42 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:28473536
Upstream regulators (CollecTRI, top): NANOG, NR0B1, POU2F1, POU3F1, POU5F1, SOX2, YY1, ZFP42, ZNF263
miRNA regulators (miRDB)
40 targeting ZFP42, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-148A-5P | 99.30 | 68.27 | 1141 |
| HSA-MIR-1264 | 99.25 | 66.81 | 1317 |
| HSA-MIR-4477B | 99.23 | 70.49 | 1733 |
| HSA-MIR-122B-3P | 99.21 | 68.90 | 1333 |
| HSA-MIR-21-3P | 99.21 | 68.95 | 1312 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-3168 | 99.08 | 67.75 | 1384 |
Literature-anchored findings (GeneRIF, showing 11)
- MAPCs express the OCT4 and REX1 transcription factors, two specific markers of undifferentiated embryonic stem (ES) cells. (PMID:15790780)
- REX1 functions in normal adult epithelial cells and tumorigenic stem cells. (PMID:16865673)
- Data show that Oct-4, Rex-1, and Gata-4 expression in human mesenchymal stem cells increases cell differentiation efficiency but not hTERT expression. (PMID:17211834)
- expression of REX-1 in meiotic cells from both testes and ovary indicate a role in meiosis. (PMID:18281244)
- hRex1 binds to the hRex1 promoter region at -298 bp and positively regulates hRex1 transcription, but this regulation is lost in PC-3 human prostate cancer cells. (PMID:20232320)
- reduced expression protein-1 (REX-1) is widely expressed in human skin and may be involved in cutaneous differentiation but not in stem cell fate determination. (PMID:21446939)
- Results show that a novel pluripotency regulator, REX1, is essential for pluripotency and reprogramming. (PMID:23939908)
- Results provide evidence that bFGF regulates stemness maintenance in stem cells isolated from human exfoliated deciduous teeth (SHEDs) by enhancing REX-1 mRNA expression via the FGFR and Akt signaling pathways. Moreover, IL-6 is also involved in the bFGF-induced REX1 expression. (PMID:27883224)
- ZFP42 missense mutation was identified in patients with multilocus imprinting disturbances. ZFP42 pathogenic mutation affects protein conformation and activity. (PMID:30221575)
- REX1 overexpression could play a crucial role in the metastasis and invasion of cervical cancer by upregulating the activity of the JAK2/STAT3 pathway by trans-suppressing SOCS1 expression. (PMID:31409905)
- REX-1 Represses RASSF1a and Activates the MEK/ERK Pathway to Promote Tumorigenesis in Prostate Cancer. (PMID:34183450)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp42 | ENSMUSG00000051176 |
| rattus_norvegicus | Zfp42 | ENSRNOG00000063726 |
| rattus_norvegicus | Zfp42 | ENSRNOG00000067356 |
| drosophila_melanogaster | phol | FBGN0035997 |
| caenorhabditis_elegans | WBGENE00011639 |
Paralogs (2): YY1 (ENSG00000100811), YY2 (ENSG00000230797)
Protein
Protein identifiers
Zinc finger protein 42 homolog — Q96MM3 (reviewed: Q96MM3)
Alternative names: Reduced expression protein 1, Zinc finger protein 754
All UniProt accessions (1): Q96MM3
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the reprogramming of X-chromosome inactivation during the acquisition of pluripotency. Required for efficient elongation of TSIX, a non-coding RNA antisense to XIST. Binds DXPas34 enhancer within the TSIX promoter. Involved in ES cell self-renewal.
Subcellular location. Nucleus.
Tissue specificity. Expressed in kidney, epidermal keratinocytes, prostate epithelial cells, bronchial and small airway lung epithelial cells (at protein level). Expressed in malignant kidney and several carcinoma cell lines (at protein level). Expressed in embryonic stem cells, kidney, epidermal keratinocytes, prostate epithelial cells, bronchial and small airway lung epithelial cells. Expressed in embryonal carcinomas, seminomas, malignant kidney and several carcinoma cell lines.
Post-translational modifications. Polyubiquitinated by RNF12, leading to proteasomal degradation.
Induction. Down-regulated upon retinoic acid addition to F9 stem cells.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (2): NP_001291287, NP_777560* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096
UniProt features (10 total): zinc finger region 4, cross-link 2, chain 1, region of interest 1, compositionally biased region 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96MM3-F1 | 57.15 | 0.27 |
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 (2): 231, 233
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 75 (showing top):
LI_CISPLATIN_RESISTANCE_DN, MUELLER_PLURINET, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, chr4q35, GOBP_FEMALE_SEX_DIFFERENTIATION, GOBP_SEX_DIFFERENTIATION, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_UP, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, CONRAD_STEM_CELL, YAMAZAKI_TCEB3_TARGETS_DN, GOBP_MALE_SEX_DIFFERENTIATION, GOBP_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS, GOBP_MEIOTIC_CELL_CYCLE, GOCC_PCG_PROTEIN_COMPLEX, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX
GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), male gonad development (GO:0008584), female gonad development (GO:0008585), meiotic cell cycle (GO:0051321)
GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (5): chromatin (GO:0000785), transcription regulator complex (GO:0005667), cytoplasm (GO:0005737), PcG protein complex (GO:0031519), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| gonad development | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cellular anatomical structure | 2 |
| transcription by RNA polymerase II | 1 |
| development of primary male sexual characteristics | 1 |
| development of primary female sexual characteristics | 1 |
| cell cycle | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| meiotic nuclear division | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1178 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZFP42 | NANOG | Q9H9S0 | 820 |
| ZFP42 | ESRRB | O95718 | 724 |
| ZFP42 | POU5F1 | P31359 | 715 |
| ZFP42 | DPPA3 | Q6W0C5 | 696 |
| ZFP42 | SOX2 | P48431 | 694 |
| ZFP42 | UTF1 | Q5T230 | 665 |
| ZFP42 | DPPA4 | Q7L190 | 626 |
| ZFP42 | RYBP | Q8N488 | 625 |
| ZFP42 | TFCP2L1 | Q9NZI6 | 624 |
| ZFP42 | GDF3 | Q9NR23 | 602 |
| ZFP42 | TBX3 | O15119 | 597 |
| ZFP42 | DPPA2 | Q7Z7J5 | 597 |
| ZFP42 | CRIPTO | P13385 | 596 |
| ZFP42 | DPPA5 | A6NC42 | 593 |
| ZFP42 | FBXO15 | Q8NCQ5 | 585 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MEOX2 | ZFP42 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIAS2 | ZFP42 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LHX2 | ZFP42 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SUMO1 | ZFP42 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF4 | ZFP42 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP42 | EEF1A2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZFP42 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZFP42 | PIAS2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZFP42 | LHX2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZFP42 | SUMO1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZFP42 | RNF4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (17): ZFP42 (Affinity Capture-MS), ZFP42 (Two-hybrid), ZFP42 (Two-hybrid), ZFP42 (Two-hybrid), ZFP42 (Two-hybrid), ZFP42 (Two-hybrid), ZFP42 (Affinity Capture-MS), ZFP42 (Affinity Capture-MS), AGO4 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), ZFP42 (Affinity Capture-MS), PPIA (Cross-Linking-MS (XL-MS)), YAF2 (Two-hybrid), EED (Two-hybrid), RYBP (Two-hybrid)
ESM2 similar proteins: A0JPK3, A1YFX5, A2RQG7, A7KBS4, F4JUI3, G3X9G7, O49498, P03131, P04605, P04614, P05909, P0C1K0, P11332, P12453, P18098, P24109, P35965, P98182, Q09424, Q0VCB0, Q19203, Q2YDJ5, Q3UZB0, Q567C6, Q5BI31, Q5EXX3, Q5M948, Q62396, Q6AXY9, Q6PB60, Q6PI77, Q71HP2, Q74124, Q7JUR5, Q7Z142, Q7Z2Y5, Q80YD3, Q86UQ0, Q8C0P7, Q8C6P8
Diamond homologs: A0JC51, A2ANX9, O15391, O57311, O57415, O60481, O62836, O73689, O95409, P08048, P0C6P6, P10925, P17010, P17012, P18747, P20662, P22227, P25490, P34694, P46684, P80944, Q00899, Q10RP4, Q12145, Q15915, Q29419, Q2FAY8, Q3TTC2, Q3UH06, Q3US17, Q3Y4E1, Q52V16, Q5NVT2, Q5R782, Q5RJ54, Q61467, Q61624, Q62520, Q62521, Q62806
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| POU5F1 | “up-regulates quantity by expression” | ZFP42 | “transcriptional regulation” |
| RLIM | “down-regulates quantity by destabilization” | ZFP42 | ubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
64 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 7 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 979496 | GRCh37/hg19 4q35.2(chr4:187391214-190957473)x1 | Pathogenic |
SpliceAI
526 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:187995838:GGG:G | donor_gain | 1.0000 |
| 4:187995839:GGG:G | donor_gain | 1.0000 |
| 4:187995839:GG:G | donor_gain | 0.9900 |
| 4:187995840:GG:G | donor_gain | 0.9900 |
| 4:187995841:G:GA | donor_loss | 0.9900 |
| 4:187995841:G:GG | donor_gain | 0.9900 |
| 4:187995842:T:G | donor_loss | 0.9900 |
| 4:187999274:GT:G | donor_gain | 0.9800 |
| 4:187995837:AGGG:A | donor_gain | 0.9600 |
| 4:187995838:GGGG:G | donor_gain | 0.9600 |
| 4:187995836:CAGGG:C | donor_gain | 0.9500 |
| 4:187995840:G:T | donor_gain | 0.9500 |
| 4:187997716:G:GG | donor_gain | 0.9400 |
| 4:187999607:A:AG | acceptor_gain | 0.9300 |
| 4:187999608:G:GG | acceptor_gain | 0.9300 |
| 4:188001322:A:AG | donor_gain | 0.9300 |
| 4:188001323:G:GG | donor_gain | 0.9300 |
| 4:188002709:GCAGG:G | acceptor_loss | 0.9300 |
| 4:188002710:CAG:C | acceptor_loss | 0.9300 |
| 4:188002711:A:AC | acceptor_loss | 0.9300 |
| 4:188002712:GGT:G | acceptor_gain | 0.9300 |
| 4:187997715:A:AG | donor_gain | 0.9200 |
| 4:188002702:T:G | acceptor_loss | 0.9200 |
| 4:188001319:T:TG | donor_gain | 0.8900 |
| 4:187999271:GAAGT:G | donor_gain | 0.8800 |
| 4:188002701:A:AG | acceptor_loss | 0.8800 |
| 4:187997505:GC:G | donor_gain | 0.8700 |
| 4:187997653:A:G | acceptor_gain | 0.8700 |
| 4:188002709:G:GA | acceptor_gain | 0.8600 |
| 4:188002708:A:AG | acceptor_gain | 0.8200 |
AlphaMissense
2032 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:188003573:T:C | F256L | 1.000 |
| 4:188003575:C:A | F256L | 1.000 |
| 4:188003575:C:G | F256L | 1.000 |
| 4:188003636:T:C | C277R | 1.000 |
| 4:188003462:T:C | C219R | 0.999 |
| 4:188003483:T:C | F226L | 0.999 |
| 4:188003485:C:A | F226L | 0.999 |
| 4:188003485:C:G | F226L | 0.999 |
| 4:188003546:T:A | C247S | 0.999 |
| 4:188003546:T:C | C247R | 0.999 |
| 4:188003547:G:C | C247S | 0.999 |
| 4:188003548:C:G | C247W | 0.999 |
| 4:188003574:T:C | F256S | 0.999 |
| 4:188003636:T:A | C277S | 0.999 |
| 4:188003637:G:C | C277S | 0.999 |
| 4:188003638:T:G | C277W | 0.999 |
| 4:188003663:T:C | F286L | 0.999 |
| 4:188003664:T:C | F286S | 0.999 |
| 4:188003665:T:A | F286L | 0.999 |
| 4:188003665:T:G | F286L | 0.999 |
| 4:188003375:T:C | C190R | 0.998 |
| 4:188003377:T:G | C190W | 0.998 |
| 4:188003464:T:G | C219W | 0.998 |
| 4:188003471:T:C | C222R | 0.998 |
| 4:188003484:T:C | F226S | 0.998 |
| 4:188003600:C:G | H265D | 0.998 |
| 4:188003602:C:A | H265Q | 0.998 |
| 4:188003602:C:G | H265Q | 0.998 |
| 4:188003607:G:C | R267P | 0.998 |
| 4:188003612:C:G | H269D | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000017269 (4:188004848 A>T), RS1000238244 (4:188000441 G>A), RS1000619195 (4:187995288 C>A,G,T), RS1000678515 (4:188000692 A>G), RS10008065 (4:188005444 C>A), RS1000860872 (4:188000244 G>A,C,T), RS1000962575 (4:187994789 A>C,G), RS1001280234 (4:187999445 T>G), RS1001393699 (4:188004797 A>G), RS1001626346 (4:187994004 T>C), RS1001648080 (4:187999158 G>C,T), RS1001687771 (4:188003692 C>T), RS1001705444 (4:187993780 T>C), RS1002238879 (4:187997902 G>A), RS1002270051 (4:187998131 G>C)
Disease associations
OMIM: gene MIM:614572 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004635_11 | Testicular germ cell tumor | 2.000000e-12 |
| GCST004713_3 | Testicular germ cell tumor | 3.000000e-08 |
| GCST004780_10 | Cortisol levels (saliva) | 8.000000e-06 |
| GCST008473_9 | Visceral fat | 2.000000e-06 |
| GCST012319_12 | LDL levels x SSRI levels (escitalopram or citalopram) interaction in schizophrenia or bipolar disorder | 6.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005843 | cortisol measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 6 |
| methylmercuric chloride | decreases expression, increases expression | 3 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| sodium arsenite | increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| belinostat | increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | increases mutagenesis, affects methylation, increases methylation | 2 |
| arsenite | decreases expression, increases methylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Indomethacin | increases expression | 1 |
| Malathion | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Asbestos, Serpentine | decreases methylation | 1 |
| Antirheumatic Agents | decreases 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): testicular germ cell tumor