ZNF331
gene geneOn this page
Also known as RITAZNF463ZNF361
Summary
ZNF331 (zinc finger protein 331, HGNC:15489) is a protein-coding gene on chromosome 19q13.42, encoding Zinc finger protein 331 (Q9NQX6). May be involved in transcriptional regulation.
This gene encodes a zinc finger protein containing a KRAB (Kruppel-associated box) domain found in transcriptional repressors. This gene may be methylated and silenced in cancer cells. This gene is located within a differentially methylated region (DMR) and shows allele-specific expression in placenta. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding the same protein.
Source: NCBI Gene 55422 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 24 total
- Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
- Transcription factor: yes — 18 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001079906
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15489 |
| Approved symbol | ZNF331 |
| Name | zinc finger protein 331 |
| Location | 19q13.42 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RITA, ZNF463, ZNF361 |
| Ensembl gene | ENSG00000130844 |
| Ensembl biotype | protein_coding |
| OMIM | 606043 |
| Entrez | 55422 |
Gene structure
Transcript identifiers
Ensembl transcripts: 85 — 77 protein_coding, 5 protein_coding_CDS_not_defined, 3 retained_intron
ENST00000253144, ENST00000449416, ENST00000502248, ENST00000502616, ENST00000504033, ENST00000504493, ENST00000504940, ENST00000505426, ENST00000505949, ENST00000509069, ENST00000509585, ENST00000511154, ENST00000511567, ENST00000511593, ENST00000512387, ENST00000513265, ENST00000513929, ENST00000513999, ENST00000514374, ENST00000647573, ENST00000648122, ENST00000648236, ENST00000648397, ENST00000648511, ENST00000649326, ENST00000649780, ENST00000649816, ENST00000650177, ENST00000876850, ENST00000876851, ENST00000876852, ENST00000876853, ENST00000876854, ENST00000876855, ENST00000876856, ENST00000876857, ENST00000876858, ENST00000876859, ENST00000876860, ENST00000876861, ENST00000876862, ENST00000876863, ENST00000876864, ENST00000876865, ENST00000876866, ENST00000876867, ENST00000924926, ENST00000924927, ENST00000924928, ENST00000924929, ENST00000924930, ENST00000924931, ENST00000924932, ENST00000924933, ENST00000924934, ENST00000924935, ENST00000924936, ENST00000924937, ENST00000924938, ENST00000924939, ENST00000924940, ENST00000924941, ENST00000924942, ENST00000924943, ENST00000924944, ENST00000924945, ENST00000924946, ENST00000924947, ENST00000924948, ENST00000924949, ENST00000949158, ENST00000949159, ENST00000949160, ENST00000949161, ENST00000949162, ENST00000949163, ENST00000949164, ENST00000949165, ENST00000949166, ENST00000949167, ENST00000949168, ENST00000949169, ENST00000949170, ENST00000949171, ENST00000949172
RefSeq mRNA: 16 — MANE Select: NM_001079906
NM_001079906, NM_001079907, NM_001253798, NM_001253799, NM_001253800, NM_001253801, NM_001317113, NM_001317114, NM_001317115, NM_001317116, NM_001317117, NM_001317118, NM_001317119, NM_001317120, NM_001317121, NM_018555
CCDS: CCDS33102
Canonical transcript exons
ENST00000449416 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001303154 | 53555845 | 53555908 |
| ENSE00001375565 | 53539216 | 53539282 |
| ENSE00001388872 | 53576697 | 53580269 |
| ENSE00001426577 | 53569304 | 53569385 |
| ENSE00002073291 | 53538145 | 53538296 |
| ENSE00002436541 | 53571604 | 53571730 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 97.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.7766 / max 431.6262, expressed in 1488 samples.
FANTOM5 promoters (21 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 177348 | 3.3154 | 347 |
| 177343 | 2.9244 | 284 |
| 177336 | 2.4469 | 1119 |
| 177328 | 1.5663 | 631 |
| 177342 | 0.6113 | 92 |
| 177329 | 0.6055 | 270 |
| 177338 | 0.4293 | 196 |
| 177340 | 0.3911 | 118 |
| 177341 | 0.2951 | 80 |
| 177337 | 0.2157 | 98 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower lobe of lung | UBERON:0008949 | 97.08 | gold quality |
| sperm | CL:0000019 | 95.23 | gold quality |
| right lung | UBERON:0002167 | 95.18 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.18 | gold quality |
| left ovary | UBERON:0002119 | 95.04 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.98 | gold quality |
| pituitary gland | UBERON:0000007 | 94.91 | gold quality |
| male germ cell | CL:0000015 | 94.89 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.47 | gold quality |
| type B pancreatic cell | CL:0000169 | 94.40 | gold quality |
| left uterine tube | UBERON:0001303 | 93.77 | gold quality |
| right ovary | UBERON:0002118 | 93.59 | gold quality |
| ovary | UBERON:0000992 | 92.77 | gold quality |
| vena cava | UBERON:0004087 | 92.54 | gold quality |
| omental fat pad | UBERON:0010414 | 92.41 | gold quality |
| peritoneum | UBERON:0002358 | 92.39 | gold quality |
| pericardium | UBERON:0002407 | 92.25 | gold quality |
| sural nerve | UBERON:0015488 | 92.05 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.98 | gold quality |
| pons | UBERON:0000988 | 91.95 | gold quality |
| tibial artery | UBERON:0007610 | 91.89 | gold quality |
| superficial temporal artery | UBERON:0001614 | 91.87 | gold quality |
| popliteal artery | UBERON:0002250 | 91.87 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.63 | gold quality |
| upper lobe of lung | UBERON:0008948 | 91.45 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 91.40 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 91.32 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 91.20 | gold quality |
| olfactory bulb | UBERON:0002264 | 91.06 | gold quality |
| lung | UBERON:0002048 | 91.01 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-106540 | yes | 1819.86 |
| E-GEOD-81547 | yes | 1758.12 |
| E-CURD-135 | yes | 1756.27 |
| E-CURD-79 | yes | 1352.53 |
| E-MTAB-8381 | yes | 755.43 |
| E-GEOD-135922 | yes | 28.98 |
| E-HCAD-1 | yes | 28.77 |
| E-CURD-122 | yes | 25.12 |
| E-MTAB-6678 | yes | 24.27 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
18 targets.
| Target | Regulation |
|---|---|
| ACTR3 | Repression |
| BAX | Activation |
| BBC3 | Activation |
| CCNB1 | Repression |
| CDC25C | Repression |
| CDK1 | Repression |
| DDX5 | Repression |
| DSTN | Repression |
| EIF5A | Repression |
| PMAIP1 | Activation |
| PNPT1 | Activation |
| SET | Repression |
| SSBP1 | Activation |
| STAM | Repression |
| TP53 | |
| TSC1 | |
| UQCRFS1 | Repression |
| ZNF91 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1726.1 | ZNF331 | More than 3 adjacent zinc fingers |
| MA1726.2 | ZNF331 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:27852650
Upstream regulators (CollecTRI, top): STAT1
miRNA regulators (miRDB)
90 targeting ZNF331, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-10395-5P | 99.86 | 67.35 | 676 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
Literature-anchored findings (GeneRIF, showing 9)
- Unique expression of a 3.4-kbp transcript of ZNF331 is described in thyroid adenoma cell lines with 19q13 aberrations. (PMID:14610350)
- ZNF331 possesses important functions for the suppression of gastric carcinogenesis as a novel functional tumor-suppressor gene (PMID:22370639)
- A high negative correlation between promoter DNA methylation and gene expression was observed for CDO1, ZNF331 and ZSCAN18 in gastrointestinal tumors. (PMID:24948044)
- Methylation of ZNF331 Promotes Cell Invasion and Migration in Human Esophageal Cancer (PMID:25929867)
- the present study provides initial evidence that RITA upregulates the expression level of IRE1a by increasing the stability of IRE1alpha mRNA in irradiated mtp53-expressing cervical cancer cells (PMID:26134873)
- this study shows that ZNF331 gene may be associated with pathogenesis of asthma (PMID:27842724)
- Results show that ZNF331 is frequently methylated in human colorectal cancer, and the expression of ZNF331 is regulated by promoter region methylation. Methylation of ZNF331 is a poor prognostic marker of colorectal cancer. (PMID:29075358)
- Study have showed the potential of promoter methylation of ZNF331 as a biomarker for colorectal cancer detection. Further data provide evidence indicating a trend towards poorer prognosis for patients with ZNF331 methylation. (PMID:29854011)
- Association of ZNF331 and WIF1 methylation in peripheral blood leukocytes with the risk and prognosis of gastric cancer. (PMID:33992091)
Cross-species orthologs
0 orthologs
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), 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), ZNF3 (ENSG00000166526)
Protein
Protein identifiers
Zinc finger protein 331 — Q9NQX6 (reviewed: Q9NQX6)
Alternative names: C2H2-like zinc finger protein rearranged in thyroid adenomas, Zinc finger protein 361, Zinc finger protein 463
All UniProt accessions (9): Q9NQX6, D6RH27, E7EPG5, E7EPT0, E7ETJ5, E7EV14, E7EWU7, Q71QC5, Q71QC9
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation. May play a role in spermatogenesis.
Subcellular location. Nucleus.
Tissue specificity. Testis specific.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (16): NP_001073375, NP_001073376, NP_001240727, NP_001240728, NP_001240729, NP_001240730, NP_001304042, NP_001304043, NP_001304044, NP_001304045, NP_001304046, NP_001304047, NP_001304048, NP_001304049, NP_001304050, NP_061025 (=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 |
| IPR050589 | Ikaros_C2H2-ZF | Family |
Pfam: PF00096, PF01352, PF13912
UniProt features (17 total): zinc finger region 12, cross-link 2, chain 1, domain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NQX6-F1 | 76.53 | 0.29 |
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): 109, 400
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: 137 (showing top):
NAGASHIMA_NRG1_SIGNALING_UP, RHEIN_ALL_GLUCOCORTICOID_THERAPY_UP, KIM_GERMINAL_CENTER_T_HELPER_DN, MAGRANGEAS_MULTIPLE_MYELOMA_IGLL_VS_IGLK_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GRYDER_PAX3FOXO1_TOP_ENHANCERS, CHEN_HOXA5_TARGETS_9HR_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GRYDER_PAX3FOXO1_ENHANCERS_KO_DOWN, REACTOME_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, RAF_UP.V1_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, DIDO1_TARGET_GENES, E2F5_TARGET_GENES
GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (6): 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), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
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 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 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 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
838 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF331 | CDO1 | P78513 | 559 |
| ZNF331 | GNAS | Q5JWF2 | 500 |
| ZNF331 | ZDBF2 | Q9HCK1 | 492 |
| ZNF331 | DCLK1 | O15075 | 488 |
| ZNF331 | DPRX | A6NFQ7 | 454 |
| ZNF331 | MCTS2 | A0A3B3IRV3 | 447 |
| ZNF331 | NRDE2 | Q9H7Z3 | 433 |
| ZNF331 | SPIDR | Q14159 | 431 |
| ZNF331 | ZSCAN18 | Q8TBC5 | 423 |
| ZNF331 | MEST | Q5EB52 | 419 |
| ZNF331 | SFRP1 | Q8N474 | 417 |
| ZNF331 | SNU13 | P55769 | 412 |
| ZNF331 | BBX | Q8WY36 | 406 |
| ZNF331 | KBTBD12 | Q3ZCT8 | 404 |
| ZNF331 | CC2D1A | Q6P1N0 | 404 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF331 | IPO8 | psi-mi:“MI:0915”(physical association) | 0.710 |
| ZNF331 | USP9Y | psi-mi:“MI:0914”(association) | 0.530 |
| Trim28 | FTH1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| C8orf33 | ZNF331 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAPK6 | ZNF331 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF331 | NR4A1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PTK2 | ZNF331 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SURF2 | ZNF331 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IPO8 | BIN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF331 | TRIM24 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPS9 | SLC25A20 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF331 | GSR | psi-mi:“MI:0914”(association) | 0.350 |
| FHL2 | ZNF331 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZNF212 | ZNF331 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZNF331 | ZNF408 | psi-mi:“MI:0915”(physical association) | 0.000 |
| APP | ZNF331 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (103): ZNF331 (Affinity Capture-MS), FAM172A (Affinity Capture-MS), FBXO38 (Affinity Capture-MS), CTNNBL1 (Affinity Capture-MS), KIF7 (Affinity Capture-MS), LRP4 (Affinity Capture-MS), IPO8 (Affinity Capture-MS), TRIM39 (Affinity Capture-MS), LRP1B (Affinity Capture-MS), NIN (Affinity Capture-MS), PPP2CA (Affinity Capture-MS), CCDC6 (Affinity Capture-MS), FBLN5 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS), SORL1 (Affinity Capture-MS)
ESM2 similar proteins: A2RRD8, A6NHJ4, A6NK75, B4DU55, O75346, P0DPD5, P15621, P17030, P17039, P52737, Q0VGE8, Q14588, Q147U1, Q15928, Q2M3X9, Q3KNS6, Q494X3, Q4R6C2, Q5HYK9, Q5R5Q6, Q5R5S6, Q5REA0, Q5REK1, Q60585, Q61751, Q6ECI4, Q6P9Y7, Q6ZN19, Q6ZNA1, Q7Z3V5, Q86T29, Q86WZ6, Q8N141, Q8N7K0, Q8N9F8, Q8NA42, Q8NCK3, Q8NDQ6, Q8NEM1, Q8WV37
Diamond homologs: A0A1W2PQL4, A2RRD8, A2VDQ7, A6NHJ4, A6NK75, A6NN14, A6NNF4, A6NP11, B4DX44, B4DXR9, E9PW05, O14628, O43345, O75290, O75346, O75373, O75820, P0CB33, P0CJ79, P0DKX0, P10755, P17032, P17035, P52738, Q02386, Q03923, Q03936, Q05481, Q08AN1, Q09FC8, Q0VGE8, Q14586, Q14593, Q147U1, Q15928, Q3MIS6, Q3SXZ3, Q494X3, Q4R6C2, Q5HY98
SIGNOR signaling
0 interactions.
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — NPC.
Clinical variants and AI predictions
ClinVar
24 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 9 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1649 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:53522043:G:GT | donor_gain | 1.0000 |
| 19:53522043:G:T | donor_gain | 1.0000 |
| 19:53522610:C:A | acceptor_gain | 1.0000 |
| 19:53522611:G:A | acceptor_gain | 1.0000 |
| 19:53539283:GT:G | donor_loss | 1.0000 |
| 19:53569299:CCTA:C | acceptor_loss | 1.0000 |
| 19:53569302:A:AG | acceptor_gain | 1.0000 |
| 19:53569302:A:AT | acceptor_loss | 1.0000 |
| 19:53569303:G:GA | acceptor_gain | 1.0000 |
| 19:53569303:GC:G | acceptor_gain | 1.0000 |
| 19:53569303:GCT:G | acceptor_gain | 1.0000 |
| 19:53569303:GCTC:G | acceptor_gain | 1.0000 |
| 19:53569303:GCTCT:G | acceptor_gain | 1.0000 |
| 19:53569381:CCCAG:C | donor_gain | 1.0000 |
| 19:53569382:CCAG:C | donor_gain | 1.0000 |
| 19:53569383:CAG:C | donor_gain | 1.0000 |
| 19:53569384:AG:A | donor_gain | 1.0000 |
| 19:53569385:GG:G | donor_gain | 1.0000 |
| 19:53569386:G:GA | donor_loss | 1.0000 |
| 19:53569386:G:GG | donor_gain | 1.0000 |
| 19:53571598:TTTCA:T | acceptor_loss | 1.0000 |
| 19:53571599:TTCA:T | acceptor_loss | 1.0000 |
| 19:53571600:TCA:T | acceptor_loss | 1.0000 |
| 19:53571601:CAGG:C | acceptor_loss | 1.0000 |
| 19:53571602:A:AG | acceptor_gain | 1.0000 |
| 19:53571602:AG:A | acceptor_gain | 1.0000 |
| 19:53571603:G:GA | acceptor_loss | 1.0000 |
| 19:53571603:G:GG | acceptor_gain | 1.0000 |
| 19:53571603:GG:G | acceptor_gain | 1.0000 |
| 19:53571603:GGGT:G | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000009240 (19:53508974 G>GCA), RS1000066515 (19:53508651 A>G), RS1000075940 (19:53535164 C>T), RS1000087379 (19:53550444 T>A), RS1000196410 (19:53565529 A>T), RS1000228129 (19:53520772 G>A,T), RS1000237946 (19:53520624 G>C), RS1000302801 (19:53565771 C>G,T), RS1000370799 (19:53559992 A>G), RS1000385610 (19:53516608 A>G,T), RS1000400903 (19:53559727 A>C,G), RS1000431858 (19:53559563 A>C,G), RS1000466492 (19:53544511 C>A,G), RS1000560452 (19:53519870 C>G,T), RS1000561389 (19:53523717 C>A)
Disease associations
OMIM: gene MIM:606043 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzene | affects expression, increases expression | 3 |
| torcetrapib | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| geraniol | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| cupric oxide | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Air Pollutants, Occupational | increases expression | 1 |
| Arsenic | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Lead | decreases expression | 1 |
| Nickel | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Vitamin E | decreases expression | 1 |
| Zinc | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_XW33 | HEK293 eGFP-ZNF331 | 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.