REG4
gene geneOn this page
Also known as REG-IVRELPGISP
Summary
REG4 (regenerating family member 4, HGNC:22977) is a protein-coding gene on chromosome 1p12, encoding Regenerating islet-derived protein 4 (Q9BYZ8). Calcium-independent lectin displaying mannose-binding specificity and able to maintain carbohydrate recognition activity in an acidic environment.
Enables heparin binding activity and mannan binding activity. Predicted to act upstream of or within response to bacterium. Located in cytoplasm.
Source: NCBI Gene 83998 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 34 total
- MANE Select transcript:
NM_032044
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22977 |
| Approved symbol | REG4 |
| Name | regenerating family member 4 |
| Location | 1p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | REG-IV, RELP, GISP |
| Ensembl gene | ENSG00000134193 |
| Ensembl biotype | protein_coding |
| OMIM | 609846 |
| Entrez | 83998 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000256585, ENST00000354219, ENST00000369401, ENST00000530654, ENST00000871091
RefSeq mRNA: 3 — MANE Select: NM_032044
NM_001159352, NM_001159353, NM_032044
CCDS: CCDS53354, CCDS906
Canonical transcript exons
ENST00000256585 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000913356 | 119803068 | 119803165 |
| ENSE00000913357 | 119799725 | 119799862 |
| ENSE00000913358 | 119798497 | 119798602 |
| ENSE00001022832 | 119808703 | 119808863 |
| ENSE00001353646 | 119794017 | 119794685 |
| ENSE00001883368 | 119811409 | 119811460 |
Expression profiles
Bgee: expression breadth ubiquitous, 115 present calls, max score 99.92.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.7725 / max 435.7278, expressed in 25 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 14092 | 0.7725 | 25 |
Top tissues by expression
231 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 99.92 | gold quality |
| duodenum | UBERON:0002114 | 98.41 | gold quality |
| jejunal mucosa | UBERON:0000399 | 98.22 | gold quality |
| body of pancreas | UBERON:0001150 | 96.39 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.85 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.33 | gold quality |
| rectum | UBERON:0001052 | 93.42 | gold quality |
| small intestine | UBERON:0002108 | 92.99 | gold quality |
| colonic mucosa | UBERON:0000317 | 91.37 | gold quality |
| pancreatic ductal cell | CL:0002079 | 90.85 | gold quality |
| vermiform appendix | UBERON:0001154 | 90.08 | gold quality |
| pancreas | UBERON:0001264 | 86.76 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.94 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 83.49 | gold quality |
| caecum | UBERON:0001153 | 80.70 | gold quality |
| jejunum | UBERON:0002115 | 78.61 | gold quality |
| intestine | UBERON:0000160 | 73.27 | gold quality |
| tibialis anterior | UBERON:0001385 | 71.98 | silver quality |
| transverse colon | UBERON:0001157 | 71.91 | gold quality |
| islet of Langerhans | UBERON:0000006 | 71.40 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 70.97 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 70.84 | silver quality |
| left ventricle myocardium | UBERON:0006566 | 70.77 | gold quality |
| large intestine | UBERON:0000059 | 66.42 | gold quality |
| myocardium | UBERON:0002349 | 66.05 | gold quality |
| kidney epithelium | UBERON:0004819 | 65.98 | gold quality |
| upper arm skin | UBERON:0004263 | 65.39 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 65.34 | gold quality |
| colon | UBERON:0001155 | 65.17 | gold quality |
| colonic epithelium | UBERON:0000397 | 64.34 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-125970 | yes | 17299.70 |
| E-MTAB-8410 | yes | 2847.07 |
| E-MTAB-8495 | yes | 1054.57 |
| E-MTAB-9543 | yes | 870.31 |
| E-CURD-84 | yes | 499.19 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CDX2, GLI1, TSG101
miRNA regulators (miRDB)
30 targeting REG4, 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-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-4320 | 99.75 | 65.80 | 793 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-4318 | 99.38 | 66.94 | 1505 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-3926 | 98.95 | 69.26 | 1438 |
| HSA-MIR-4724-5P | 98.87 | 67.75 | 1324 |
| HSA-MIR-4755-3P | 98.77 | 65.59 | 1915 |
| HSA-MIR-6794-3P | 98.76 | 66.99 | 894 |
| HSA-MIR-9500 | 98.62 | 66.54 | 1845 |
| HSA-MIR-7114-5P | 98.51 | 67.87 | 1349 |
| HSA-MIR-548S | 98.50 | 67.17 | 1213 |
| HSA-MIR-4722-5P | 98.46 | 66.34 | 1611 |
| HSA-MIR-6826-3P | 98.19 | 66.32 | 1153 |
| HSA-MIR-4664-5P | 98.17 | 65.07 | 1020 |
| HSA-MIR-4468 | 98.01 | 66.85 | 1187 |
| HSA-MIR-6511B-5P | 97.98 | 65.64 | 823 |
| HSA-MIR-6811-5P | 97.98 | 64.96 | 848 |
| HSA-MIR-4433A-3P | 97.75 | 62.82 | 1435 |
| HSA-MIR-4676-5P | 97.54 | 65.29 | 715 |
| HSA-MIR-575 | 97.54 | 65.18 | 718 |
| HSA-MIR-342-5P | 97.25 | 64.10 | 817 |
| HSA-MIR-2276-5P | 96.27 | 65.85 | 937 |
| HSA-MIR-4758-5P | 94.82 | 67.06 | 499 |
| HSA-MIR-1238-5P | 94.82 | 67.52 | 493 |
Literature-anchored findings (GeneRIF, showing 40)
- Results suggest that RELP might be involved in inflammatory and metaplastic responses of the gastrointestinal epithelium. (PMID:12819006)
- overexpression of Reg IV may be an early event in colorectal carcinogenesis. (PMID:14550954)
- Increased expression of Reg IV is associated wirh hormone refractory metastatic prostate cancer (PMID:15788672)
- RELP serves as a marker for appendiceal mucinous cystadenomas and pseudomyxoma peritonei and may contribute to the pathogenesis of these disorders. (PMID:16323007)
- Reg IV is a potent activator of the EGF receptor/Akt/AP-1 signaling pathway in colorectal carcinoma (PMID:16401477)
- Overexpression of REG4 is associated with pancreatic cancer (PMID:16918991)
- serum Reg IV concentration may predict metastatic recurrence of colorectal cancer in the liver.Reg IV protein expression induced by growth factors may function as a growth-promoting and/or an antiapoptotic factor in the peritumoral mucosa of CRC. (PMID:18187959)
- RegIV expression was markedly higher in gastric cancer patients with peritoneal metastases compared to those without; level of RegIV mRNA in gastric cancer patients was related to the extent of wall penetration (PMID:18505053)
- Reg IV staining can aid in diagnosis of gastrointestinal signet ring cell carcinoma. (PMID:18580680)
- These results suggest that Reg IV expression is an independent prognostic indicator of relapse after radical prostatectomy. (PMID:18754868)
- Reg IV might accelerate cell growth and disease progression of adenoid cystic carcinomas . (PMID:19076683)
- among major urologic cancers, Reg IV is expressed frequently in prostate cancer, and that serum Reg IV represents a novel biomarker for prostate cancer (PMID:19082448)
- REG4 is involved in the ‘intestinal’ pathway of carcinogenesis in intraductal papillary mucinous neoplasms of the pancreas (PMID:19136934)
- Reg IV might accelerate peritoneal metastasis in gastric cancer. Reg IV in lavage fluids might be a good marker for peritoneal metastasis (PMID:19143768)
- Expression of REG Ialpha but not REG IV was an independent predictor of poor outcome in patients with gastric cancer. (PMID:19329938)
- Data demonstrated in vitro and in vivo that REG4 protein overexpression was associated with an unfavorable response to preoperative chemoradiotherapy. (PMID:19546835)
- Reg IV is involved in gallbladder carcinoma carcinogenesis through intestinal metaplasia and is associated with relatively favorable prognosis in patients after surgery (PMID:19716164)
- Reg IV expression experienced up-regulation in gastric intestinal metaplasia and adenoma and then down-regulation with malignant transformation of gastric epithelial cells. (PMID:19740514)
- REG4 is expressed in pancreatic cancer, and serum levels of REG4 offer a useful indicator for distinguishing between patients with pancreatic cancer and healthy subjects (PMID:19789838)
- reg4 is amplified in the early stages of pancreatic cancer development (PMID:19834624)
- Reg IV as an important modulator of gastrointestinal cell susceptibility to irradiation; hence, it is a potential target for adjunctive treatments for human colorectal cancer and other gastrointestinal malignancies. (PMID:19900450)
- Local Reg IV expression may be influenced by the growth factors basic fibroblast growth factor and somatotropin and dtheri receptors (PMID:19924642)
- REG4 may play an important role in the development and progression of colorectal cancer, as well as in intestinal morphogenesis and epithelium restitution (PMID:20126989)
- REG IV overexpression may be an early event in colorectal carcinoma carcinogenesis. (PMID:20183800)
- RegIV is expressed in the gastrointestinal tract and in digestive tract neuroendocrine tumor (PMID:20349522)
- RegIV enhances LoVo cell migration and invasion, and its CRD domain is critical for these effects. (PMID:20417867)
- The solution structure of hRegIV-P91S was determined, showing that it adopts a typical fold of C-type lectin. Based on the chemical shift perturbations of amide resonances, two calcium-independent mannan-binding sites were proposed (PMID:20692269)
- REG4 may be a prognostic indicator and a better serum marker than carcinoembryonic antigen and carbohydrate antigen 19-9 for early diagnosis of gastric cancer. (PMID:21419474)
- Knockdown of Reg IV impacted the ability of insulin and EGF to stimulate downstream tyrosine phosphorylation. (PMID:21445968)
- Overexpression of REGIV mRNA is assessed with peritoneal recurrence in gastric adenocarcinoma. (PMID:21780125)
- REG4, BIRC5 and NEIL2 genes might have a role in the sensitivity of cancer patients to radiotherapy (PMID:22199273)
- TGF-beta signalling reduces the expression of ALDH1 and REG4, and the size of the ALDH1+ cell population. (PMID:22430847)
- Suggest that Reg IV might accelerate disease progression and act as a candidate prognostic marker for gliomas. (PMID:22713481)
- REG4 promotes not only growth but also in vitro invasiveness of pancreatic cancer cells by upregulating MMP-7 and MMP-9. (PMID:22957785)
- RegIV may play an important role in the intrinsic resistance of gastric cancer cells to 5-FU. (PMID:23010741)
- CDX2 protein directly regulates Reg IV expression in gastric cancer (PMID:23133598)
- The Reg IV may be involved in the finetuning of functions exerted by the neuroendocrine cells in the GI-tract. (PMID:23499801)
- Immunohistochemistry against known cell-type markers on serial sections has localised the expression of REGs to metaplastic Paneth cells (REG1A, REG1B and REG3A) and enteroendocrine cells (REG4), with a marked expansion of expression during inflammation. (PMID:23519454)
- REG4 expression is common in mucinous borderline ovarian tumors of the intestinal type as it is absent in the endocervical-like form tumors. (PMID:23958547)
- the stemness properties of control mammospheres and RegIV knockdown mammospheres were compared by tumourigenicity assay in vivo and plate colony formation assay in vitro. (PMID:24064664)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Reg4 | ENSMUSG00000027876 |
| rattus_norvegicus | Reg4 | ENSRNOG00000019046 |
| caenorhabditis_elegans | WBGENE00019914 |
Paralogs (5): REG1A (ENSG00000115386), REG3G (ENSG00000143954), REG3A (ENSG00000172016), REG1B (ENSG00000172023), CLEC19A (ENSG00000261210)
Protein
Protein identifiers
Regenerating islet-derived protein 4 — Q9BYZ8 (reviewed: Q9BYZ8)
Alternative names: Gastrointestinal secretory protein, REG-like protein, Regenerating islet-derived protein IV
All UniProt accessions (2): E9PNV6, Q9BYZ8
UniProt curated annotations — full annotation on UniProt →
Function. Calcium-independent lectin displaying mannose-binding specificity and able to maintain carbohydrate recognition activity in an acidic environment. May be involved in inflammatory and metaplastic responses of the gastrointestinal epithelium.
Subcellular location. Secreted.
Tissue specificity. Highly expressed in the gastrointestinal tract including the duodenum, jejunum, ileum, ileocecum, appendix, descending colon, pancreas and small intestine. Weakly expressed in normal colon and stomach. Strongly expressed in most colorectal tumors than in normal colon. Preferentially expressed in mucinous tumors and in some cases neuro-endocrine tumors. Expressed in mucus-secreting cells and enterocyte-like cells. In small intestine expressed at the basal perinuclear zone of goblet cells.
Induction. Up-regulated by mucosal injury from active Crohn’s disease or ulcerative colitis. Up-regulated in colorectal tumors. Up-regulated in epithelial cells at regenerating margins of peptic ulcers in the stomach and duodenum.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BYZ8-1 | 1 | yes |
| Q9BYZ8-2 | 2 |
RefSeq proteins (3): NP_001152824, NP_001152825, NP_114433* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001304 | C-type_lectin-like | Domain |
| IPR016186 | C-type_lectin-like/link_sf | Homologous_superfamily |
| IPR016187 | CTDL_fold | Homologous_superfamily |
| IPR018378 | C-type_lectin_CS | Conserved_site |
| IPR050111 | C-type_lectin/snaclec_domain | Family |
Pfam: PF00059
UniProt features (21 total): strand 7, disulfide bond 3, splice variant 2, helix 2, binding site 2, signal peptide 1, chain 1, sequence variant 1, domain 1, glycosylation site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2KV3 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BYZ8-F1 | 89.17 | 0.77 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (2): 98–103; 135–137
Disulfide bonds (3): 30–41, 58–154, 129–146
Glycosylation sites (1): 50
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 87 (showing top):
WATANABE_COLON_CANCER_MSI_VS_MSS_UP, GATA6_01, GOMF_GLYCOSAMINOGLYCAN_BINDING, chr1p12, GATA1_02, GOMF_HEPARIN_BINDING, GOMF_SULFUR_COMPOUND_BINDING, GOBP_RESPONSE_TO_BACTERIUM, GOMF_POLYSACCHARIDE_BINDING, MARTENS_TRETINOIN_RESPONSE_UP, VECCHI_GASTRIC_CANCER_ADVANCED_VS_EARLY_DN, FEVR_CTNNB1_TARGETS_DN, ANDERSEN_CHOLANGIOCARCINOMA_CLASS2, CEBPE_TARGET_GENES, DLX2_TARGET_GENES
GO Biological Process (1): response to bacterium (GO:0009617)
GO Molecular Function (4): heparin binding (GO:0008201), signaling receptor activity (GO:0038023), mannan binding (GO:2001065), carbohydrate binding (GO:0030246)
GO Cellular Component (2): extracellular region (GO:0005576), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| response to other organism | 1 |
| glycosaminoglycan binding | 1 |
| sulfur compound binding | 1 |
| molecular transducer activity | 1 |
| polysaccharide binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
730 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| REG4 | TFF3 | Q07654 | 654 |
| REG4 | GPR37 | O15354 | 629 |
| REG4 | KRT20 | P35900 | 587 |
| REG4 | TFF2 | Q03403 | 540 |
| REG4 | SPINK4 | O60575 | 532 |
| REG4 | LGR5 | O75473 | 530 |
| REG4 | MS4A12 | Q9NXJ0 | 498 |
| REG4 | EXTL3 | O43909 | 485 |
| REG4 | OLFM4 | Q6UX06 | 483 |
| REG4 | CLDN18 | P56856 | 477 |
| REG4 | MUC2 | Q02817 | 456 |
| REG4 | ZG16 | O60844 | 453 |
| REG4 | ZC3H12A | Q5D1E8 | 445 |
| REG4 | AGR2 | O95994 | 439 |
| REG4 | SPINK8 | P0C7L1 | 426 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| REG4 | ATE1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (14): ATE1 (Affinity Capture-MS), HTRA1 (Affinity Capture-MS), UBAC1 (Affinity Capture-MS), KLHL26 (Affinity Capture-MS), SIRT3 (Affinity Capture-MS), RNF123 (Affinity Capture-MS), SIRT3 (Affinity Capture-MS), RNF123 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), HTRA1 (Affinity Capture-MS), PITRM1 (Affinity Capture-MS), KLHL26 (Affinity Capture-MS), UBAC1 (Affinity Capture-MS), KLHL22 (Affinity Capture-MS)
ESM2 similar proteins: A1XXJ9, A7X3X0, A7X3X3, A7X3X8, A7X3Y2, B5U6Y6, D2YVH7, D2YVJ8, D2YVK5, D8VNS6, I7ICN3, O09037, O09049, O93426, O93427, P05451, P0DM38, P10758, P23132, P23807, P25031, P35230, P35231, P42854, P43137, P48304, P81112, P81114, Q06141, Q08731, Q09GJ8, Q09GK0, Q56EB0, Q5FZI6, Q68AX7, Q6TPG9, Q6UW15, Q6X5S0, Q6X5S1, Q6X5S4
Diamond homologs: A1XXJ9, A3FM55, A7X3W1, A7X3W6, A7X3X0, A7X3X3, A7X3X8, A7X3Y2, A7X3Y6, A7X3Z0, A7X3Z4, A7X3Z7, A7X401, A7X406, A7X409, A7X413, B0VXV0, B0VXV1, B5U6Y6, C6JUN9, D1MGU0, D2YVH7, D2YVI2, D2YVJ6, D2YVJ8, D2YVK1, D2YVK5, D2YW40, D8VNS6, I7ICN3, J3S3U6, J3SBP0, O93427, P05451, P07439, P0DL30, P0DM36, P0DM38, P0DM39, P0DM53
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 27 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
889 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:119794683:AGT:A | acceptor_gain | 0.9900 |
| 1:119794683:AGTC:A | acceptor_loss | 0.9900 |
| 1:119794685:TCT:T | acceptor_loss | 0.9900 |
| 1:119794686:C:CC | acceptor_gain | 0.9900 |
| 1:119794687:T:A | acceptor_loss | 0.9900 |
| 1:119803062:TCTTA:T | donor_loss | 0.9900 |
| 1:119803063:CTTA:C | donor_loss | 0.9900 |
| 1:119803064:TTACC:T | donor_loss | 0.9900 |
| 1:119803065:TACCT:T | donor_loss | 0.9900 |
| 1:119803067:C:CA | donor_loss | 0.9900 |
| 1:119803161:GATAT:G | acceptor_gain | 0.9900 |
| 1:119803162:ATATC:A | acceptor_loss | 0.9900 |
| 1:119803163:TAT:T | acceptor_gain | 0.9900 |
| 1:119803163:TATC:T | acceptor_loss | 0.9900 |
| 1:119803164:ATC:A | acceptor_loss | 0.9900 |
| 1:119803165:TCTGC:T | acceptor_loss | 0.9900 |
| 1:119803166:C:CC | acceptor_gain | 0.9900 |
| 1:119803167:T:A | acceptor_loss | 0.9900 |
| 1:119803172:A:C | acceptor_gain | 0.9900 |
| 1:119811403:GATTA:G | donor_loss | 0.9900 |
| 1:119811404:ATTAC:A | donor_loss | 0.9900 |
| 1:119811406:TA:T | donor_loss | 0.9900 |
| 1:119811408:C:CA | donor_loss | 0.9900 |
| 1:119811440:G:A | donor_gain | 0.9900 |
| 1:119794681:AAAGT:A | acceptor_gain | 0.9800 |
| 1:119794682:AAGT:A | acceptor_gain | 0.9800 |
| 1:119794684:GT:G | acceptor_gain | 0.9800 |
| 1:119803162:ATAT:A | acceptor_gain | 0.9700 |
| 1:119803164:AT:A | acceptor_gain | 0.9700 |
| 1:119803171:C:CT | acceptor_gain | 0.9700 |
AlphaMissense
1049 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:119798585:C:A | W107C | 0.993 |
| 1:119798585:C:G | W107C | 0.993 |
| 1:119794634:C:G | C154S | 0.991 |
| 1:119794635:A:T | C154S | 0.991 |
| 1:119799855:C:G | C58S | 0.991 |
| 1:119799856:A:T | C58S | 0.991 |
| 1:119803080:C:A | W51C | 0.991 |
| 1:119803080:C:G | W51C | 0.991 |
| 1:119794639:G:C | F152L | 0.990 |
| 1:119794639:G:T | F152L | 0.990 |
| 1:119794641:A:G | F152L | 0.990 |
| 1:119794672:C:A | W141C | 0.990 |
| 1:119794672:C:G | W141C | 0.990 |
| 1:119803073:C:G | A54P | 0.990 |
| 1:119799749:C:A | W93C | 0.989 |
| 1:119799749:C:G | W93C | 0.989 |
| 1:119798591:C:A | W105C | 0.987 |
| 1:119798591:C:G | W105C | 0.987 |
| 1:119799854:A:C | C58W | 0.983 |
| 1:119803131:C:A | W34C | 0.982 |
| 1:119803131:C:G | W34C | 0.982 |
| 1:119798520:C:G | C129S | 0.980 |
| 1:119798521:A:T | C129S | 0.980 |
| 1:119798587:A:G | W107R | 0.979 |
| 1:119798587:A:T | W107R | 0.979 |
| 1:119799856:A:G | C58R | 0.979 |
| 1:119794658:C:G | C146S | 0.977 |
| 1:119794659:A:T | C146S | 0.977 |
| 1:119799855:C:T | C58Y | 0.977 |
| 1:119803111:C:G | C41S | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000000493 (1:119800862 G>A), RS1000019976 (1:119804673 T>C), RS1000079425 (1:119799185 CCA>C), RS1000117501 (1:119801930 G>A,C), RS1000161888 (1:119797781 G>A), RS1000587759 (1:119795032 C>A), RS1000640220 (1:119794850 T>C), RS1000669861 (1:119809341 T>C), RS1000947103 (1:119795133 A>C,G), RS1001198166 (1:119799563 A>G), RS1001221056 (1:119810032 T>C), RS1001274689 (1:119795337 T>C,G), RS1001314148 (1:119799831 T>C), RS1001429235 (1:119794349 T>C), RS1001826166 (1:119805052 C>A)
Disease associations
OMIM: gene MIM:609846 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006585_2242 | Blood protein levels | 2.000000e-09 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| propionaldehyde | decreases expression | 1 |
| terbufos | increases methylation | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| entinostat | increases expression | 1 |
| perfluorohexanesulfonic acid | increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Fluorouracil | decreases response to substance | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Parathion | increases methylation | 1 |
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.