ZNF354A
gene geneOn this page
Also known as KID-1EZNFHKL1KID1
Summary
ZNF354A (zinc finger protein 354A, HGNC:11628) is a protein-coding gene on chromosome 5q35.3, encoding Zinc finger protein 354A (O60765).
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in cytosol; nucleolus; and nucleoplasm. Biomarker of in situ carcinoma and seminoma.
Source: NCBI Gene 6940 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 79 total
- MANE Select transcript:
NM_005649
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11628 |
| Approved symbol | ZNF354A |
| Name | zinc finger protein 354A |
| Location | 5q35.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KID-1, EZNF, HKL1, KID1 |
| Ensembl gene | ENSG00000169131 |
| Ensembl biotype | protein_coding |
| OMIM | 602444 |
| Entrez | 6940 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 nonsense_mediated_decay
ENST00000335815, ENST00000518048, ENST00000520331, ENST00000865234, ENST00000865235, ENST00000865236, ENST00000916334, ENST00000916335, ENST00000916336
RefSeq mRNA: 2 — MANE Select: NM_005649
NM_001324339, NM_005649
CCDS: CCDS4438
Canonical transcript exons
ENST00000335815 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001194604 | 178711512 | 178713621 |
| ENSE00002108682 | 178730556 | 178730659 |
| ENSE00002499429 | 178728990 | 178729073 |
| ENSE00003832941 | 178726999 | 178727125 |
| ENSE00003837177 | 178725376 | 178725471 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 87.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.9389 / max 208.2473, expressed in 1621 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 65181 | 3.3146 | 1416 |
| 65180 | 1.6358 | 1063 |
| 65182 | 0.9885 | 638 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 87.57 | gold quality |
| oocyte | CL:0000023 | 87.25 | gold quality |
| cortical plate | UBERON:0005343 | 87.17 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.47 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.31 | gold quality |
| monocyte | CL:0000576 | 84.90 | gold quality |
| mononuclear cell | CL:0000842 | 84.54 | gold quality |
| leukocyte | CL:0000738 | 84.37 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.89 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 82.92 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 82.71 | gold quality |
| lower esophagus | UBERON:0013473 | 82.69 | gold quality |
| metanephros cortex | UBERON:0010533 | 82.62 | gold quality |
| granulocyte | CL:0000094 | 82.44 | gold quality |
| body of pancreas | UBERON:0001150 | 82.39 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 81.75 | gold quality |
| embryo | UBERON:0000922 | 81.64 | gold quality |
| ventricular zone | UBERON:0003053 | 81.25 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 80.93 | gold quality |
| mucosa of stomach | UBERON:0001199 | 80.81 | gold quality |
| left uterine tube | UBERON:0001303 | 80.57 | gold quality |
| sigmoid colon | UBERON:0001159 | 80.56 | gold quality |
| apex of heart | UBERON:0002098 | 80.49 | gold quality |
| pancreas | UBERON:0001264 | 80.45 | gold quality |
| spleen | UBERON:0002106 | 80.34 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 80.24 | gold quality |
| bone marrow | UBERON:0002371 | 80.13 | gold quality |
| thyroid gland | UBERON:0002046 | 80.12 | gold quality |
| body of uterus | UBERON:0009853 | 80.04 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 79.95 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.69 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1978.1 | ZNF354A | More than 3 adjacent zinc fingers |
| MA1978.2 | ZNF354A | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:27852650
Upstream regulators (CollecTRI, top): STAT1
miRNA regulators (miRDB)
39 targeting ZNF354A, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-3913-3P | 99.74 | 66.53 | 938 |
| HSA-MIR-4499 | 99.62 | 67.29 | 1470 |
| HSA-MIR-885-5P | 99.59 | 68.59 | 879 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-6740-3P | 99.48 | 68.49 | 1392 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-7151-5P | 99.37 | 67.82 | 613 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-520F-5P | 99.34 | 70.40 | 1632 |
| HSA-MIR-133A-3P | 99.27 | 71.53 | 1270 |
| HSA-MIR-133B | 99.27 | 71.53 | 1270 |
| HSA-MIR-4721 | 99.26 | 66.05 | 818 |
| HSA-MIR-8065 | 99.19 | 70.38 | 1289 |
| HSA-MIR-10399-5P | 99.17 | 69.87 | 2610 |
| HSA-MIR-6504-3P | 99.17 | 69.31 | 2891 |
| HSA-MIR-670-3P | 99.03 | 68.88 | 2404 |
| HSA-MIR-323A-5P | 98.59 | 65.13 | 651 |
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp354a | ENSMUSG00000020364 |
| rattus_norvegicus | Zfp354a | ENSRNOG00000003634 |
Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)
Protein
Protein identifiers
Zinc finger protein 354A — O60765 (reviewed: O60765)
Alternative names: Transcription factor 17, Zinc finger protein eZNF
All UniProt accessions (4): O60765, E5RGC2, E5RHT5, V9HWI2
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Nucleus.
Tissue specificity. Expressed in kidney and inner ear.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (2): NP_001311268, NP_005640* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096, PF01352
UniProt features (23 total): zinc finger region 13, cross-link 5, chain 1, domain 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-O60765-F1 | 68.73 | 0.22 |
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 (5): 110, 121, 139, 171, 268
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-9843940 | Regulation of endogenous retroelements by KRAB-ZFP proteins |
MSigDB gene sets: 82 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, NKX25_02, WOO_LIVER_CANCER_RECURRENCE_UP, GOBP_SENSORY_PERCEPTION, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM, GOCC_NUCLEOLUS, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, DUTERTRE_ESTRADIOL_RESPONSE_24HR_DN, PGF_UP.V1_UP, REACTOME_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_129_MOUSE_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CEBPZ_TARGET_GENES
GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), sensory perception of sound (GO:0007605), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
| Regulation of endogenous retroelements | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| sensory perception of mechanical stimulus | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 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 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
674 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF354A | USP50 | Q70EL3 | 701 |
| ZNF354A | FRG2C | A6NGY1 | 700 |
| ZNF354A | LIN54 | Q6MZP7 | 581 |
| ZNF354A | EML3 | Q32P44 | 509 |
| ZNF354A | SPICE1 | Q8N0Z3 | 478 |
| ZNF354A | ZMYM6 | O95789 | 474 |
| ZNF354A | CACHD1 | Q5VU97 | 461 |
| ZNF354A | DCTPP1 | Q9H773 | 454 |
| ZNF354A | SRY | Q05066 | 451 |
| ZNF354A | UBAC2 | Q8NBM4 | 438 |
| ZNF354A | SNRPF | P62306 | 435 |
| ZNF354A | CMTM3 | Q96MX0 | 433 |
| ZNF354A | GTF2H1 | P32780 | 430 |
| ZNF354A | RAB30 | Q15771 | 424 |
| ZNF354A | ARPP19 | P56211 | 418 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF331 | USP9Y | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF71 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3HAV1 | KHNYN | psi-mi:“MI:0914”(association) | 0.530 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL8 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF354A | ECE1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| PPAN | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL28 | SDCBP | psi-mi:“MI:0914”(association) | 0.350 |
| ZC3HAV1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| GPATCH4 | NOP56 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| rl3_rl3l_human | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| RPS19 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF467 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL36 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL28 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ADARB1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| OASL | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (52): ZNF354A (Affinity Capture-MS), ZNF354A (Affinity Capture-MS), ZNF354A (Affinity Capture-MS), ZNF354A (Affinity Capture-MS), ZNF354A (Affinity Capture-MS), ZNF354A (Affinity Capture-MS), ZNF354A (Affinity Capture-MS), ZNF354A (Affinity Capture-MS), ZNF354A (Affinity Capture-MS), ZNF354A (Affinity Capture-MS), HDAC4 (Reconstituted Complex), ZNF354A (Proximity Label-MS), ZNF354A (Affinity Capture-MS), ZNF354A (Affinity Capture-MS), ZNF354A (Affinity Capture-MS)
ESM2 similar proteins: A1YEP8, A1YFW2, A2RRD8, A2T6E3, A2T6V8, A2T7D2, A2T7F4, A2T812, A6NHJ4, O14709, O43309, O60765, P17036, P17097, P51814, P52738, Q02975, Q08ER8, Q0VGE8, Q12901, Q2M218, Q2M3X9, Q3KNS6, Q4V8A8, Q5RBX0, Q5RCD9, Q5VIY5, Q61751, Q6GQR8, Q6ZMS4, Q7TSH9, Q86Y25, Q8BQC8, Q8IYX0, Q8IZ26, Q8N9F8, Q8NF99, Q8TF39, Q8TF47, Q96N58
Diamond homologs: A2A761, A2VDP4, A3KN32, A6QLU5, A6QPT6, A7MBI1, A8MT65, B4DU55, E9PYI1, O60765, O95780, P15622, P17014, P17032, P17098, P21506, P51508, P51814, P52736, P52738, P52742, Q02975, Q06730, Q06732, Q0VCB0, Q14587, Q16587, Q2KI58, Q2M3W8, Q3V080, Q49AA0, Q4R6C2, Q4V8A8, Q571J5, Q5HYK9, Q5JUW0, Q5JVG2, Q5MCW4, Q5MYW4, Q5R4K8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 52 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 |
|---|---|---|---|
| Peptide chain elongation | 10 | 40.9× | 8e-13 |
| Viral mRNA Translation | 10 | 40.9× | 8e-13 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 10 | 40.5× | 8e-13 |
| Selenocysteine synthesis | 10 | 38.8× | 8e-13 |
| Eukaryotic Translation Termination | 10 | 38.8× | 8e-13 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 10 | 38.0× | 8e-13 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 10 | 38.0× | 8e-13 |
| Formation of a pool of free 40S subunits | 10 | 36.1× | 1e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 10 | 40.3× | 1e-11 |
| translation | 11 | 24.6× | 7e-11 |
| rRNA processing | 7 | 21.6× | 3e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
79 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 69 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
717 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:178725371:CTTA:C | donor_loss | 1.0000 |
| 5:178725372:TTAC:T | donor_loss | 1.0000 |
| 5:178725373:TA:T | donor_loss | 1.0000 |
| 5:178726993:CCTTA:C | donor_loss | 1.0000 |
| 5:178726994:CTTA:C | donor_loss | 1.0000 |
| 5:178726995:TTACC:T | donor_loss | 1.0000 |
| 5:178726996:TACCC:T | donor_loss | 1.0000 |
| 5:178726997:A:AC | donor_gain | 1.0000 |
| 5:178726997:A:AT | donor_loss | 1.0000 |
| 5:178726997:AC:A | donor_gain | 1.0000 |
| 5:178726997:ACC:A | donor_gain | 1.0000 |
| 5:178726998:C:CC | donor_gain | 1.0000 |
| 5:178726998:CC:C | donor_gain | 1.0000 |
| 5:178726998:CCC:C | donor_gain | 1.0000 |
| 5:178726998:CCCA:C | donor_gain | 1.0000 |
| 5:178727123:CAC:C | acceptor_gain | 1.0000 |
| 5:178727123:CACCT:C | acceptor_loss | 1.0000 |
| 5:178727125:CCTG:C | acceptor_loss | 1.0000 |
| 5:178727126:C:CC | acceptor_gain | 1.0000 |
| 5:178727126:CTGTA:C | acceptor_loss | 1.0000 |
| 5:178727127:T:G | acceptor_loss | 1.0000 |
| 5:178727217:T:TA | donor_gain | 1.0000 |
| 5:178727218:C:A | donor_gain | 1.0000 |
| 5:178728984:GCTCA:G | donor_loss | 1.0000 |
| 5:178728985:CTCA:C | donor_loss | 1.0000 |
| 5:178728986:TCA:T | donor_loss | 1.0000 |
| 5:178728987:CA:C | donor_loss | 1.0000 |
| 5:178728988:A:AG | donor_loss | 1.0000 |
| 5:178728989:CCT:C | donor_loss | 1.0000 |
| 5:178730558:C:A | donor_gain | 1.0000 |
AlphaMissense
3986 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:178712621:A:C | F419L | 0.999 |
| 5:178712621:A:T | F419L | 0.999 |
| 5:178712623:A:G | F419L | 0.999 |
| 5:178712705:G:C | F391L | 0.998 |
| 5:178712705:G:T | F391L | 0.998 |
| 5:178712707:A:G | F391L | 0.998 |
| 5:178712342:G:C | H512Q | 0.997 |
| 5:178712342:G:T | H512Q | 0.997 |
| 5:178712604:A:G | L425P | 0.997 |
| 5:178712617:A:G | S421P | 0.997 |
| 5:178712622:A:G | F419S | 0.997 |
| 5:178712678:A:C | H400Q | 0.997 |
| 5:178712678:A:T | H400Q | 0.997 |
| 5:178712680:G:C | H400D | 0.997 |
| 5:178712201:A:C | F559L | 0.996 |
| 5:178712201:A:T | F559L | 0.996 |
| 5:178712203:A:G | F559L | 0.996 |
| 5:178712344:G:C | H512D | 0.996 |
| 5:178712369:G:C | F503L | 0.996 |
| 5:178712369:G:T | F503L | 0.996 |
| 5:178712371:A:G | F503L | 0.996 |
| 5:178712453:G:C | F475L | 0.996 |
| 5:178712453:G:T | F475L | 0.996 |
| 5:178712455:A:G | F475L | 0.996 |
| 5:178712688:A:G | L397P | 0.996 |
| 5:178712285:A:C | F531L | 0.995 |
| 5:178712285:A:T | F531L | 0.995 |
| 5:178712287:A:G | F531L | 0.995 |
| 5:178712426:A:C | H484Q | 0.995 |
| 5:178712426:A:T | H484Q | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000180053 (5:178716542 T>C), RS1000247933 (5:178727500 T>C), RS1000261226 (5:178721621 A>G), RS1000316196 (5:178716192 G>A), RS1000350002 (5:178716743 A>C), RS1000383336 (5:178722653 T>C,G), RS1000519013 (5:178717851 G>A), RS1000953408 (5:178718220 T>C), RS1001249948 (5:178711343 C>T), RS1001261077 (5:178728868 G>A,T), RS1001318455 (5:178714705 G>A), RS1001669308 (5:178720603 A>C), RS1001722286 (5:178730888 A>G), RS1001822874 (5:178723331 T>C), RS1002427658 (5:178724728 C>A)
Disease associations
OMIM: gene MIM:602444 | 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 |
|---|---|---|
| GCST002337_127 | Amyotrophic lateral sclerosis (sporadic) | 3.000000e-07 |
| GCST007676_10 | 3-month functional outcome in ischaemic stroke (modified Rankin score) | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009603 | stroke outcome severity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| geraniol | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | affects cotreatment, decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Smoke | decreases expression | 1 |
| Sulindac | increases expression | 1 |
| Theophylline | affects cotreatment, decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases expression, increases methylation | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Asbestos, Crocidolite | decreases methylation | 1 |
| Cadmium Chloride | 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): sporadic amyotrophic lateral sclerosis