ENTR1
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Also known as NY-CO-3
Summary
ENTR1 (endosome associated trafficking regulator 1, HGNC:10667) is a protein-coding gene on chromosome 9q34.3, encoding Endosome-associated-trafficking regulator 1 (Q96C92). Endosome-associated protein that plays a role in membrane receptor sorting, cytokinesis and ciliogenesis.
Involved in several processes, including endocytic recycling; positive regulation of cilium assembly; and positive regulation of protein localization to cilium. Located in several cellular components, including endosome; microtubule organizing center; and retromer complex.
Source: NCBI Gene 10807 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 147 total
- MANE Select transcript:
NM_001039707
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10667 |
| Approved symbol | ENTR1 |
| Name | endosome associated trafficking regulator 1 |
| Location | 9q34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NY-CO-3 |
| Ensembl gene | ENSG00000165689 |
| Ensembl biotype | protein_coding |
| OMIM | 618289 |
| Entrez | 10807 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 8 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000298537, ENST00000357365, ENST00000371723, ENST00000371725, ENST00000417512, ENST00000446833, ENST00000461693, ENST00000466579, ENST00000468963, ENST00000481114, ENST00000486441, ENST00000918208, ENST00000918209
RefSeq mRNA: 3 — MANE Select: NM_001039707
NM_001039707, NM_001039708, NM_006643
CCDS: CCDS43903, CCDS43904, CCDS6999
Canonical transcript exons
ENST00000357365 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001433151 | 136408999 | 136409067 |
| ENSE00001703364 | 136410090 | 136410239 |
| ENSE00001791874 | 136405091 | 136405202 |
| ENSE00001874161 | 136410328 | 136410614 |
| ENSE00002167357 | 136407826 | 136407938 |
| ENSE00003482816 | 136404631 | 136404693 |
| ENSE00003595575 | 136404055 | 136404194 |
| ENSE00003650270 | 136405905 | 136405978 |
| ENSE00003717602 | 136401922 | 136402887 |
| ENSE00003786326 | 136407145 | 136407561 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 96.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.7969 / max 238.3430, expressed in 1815 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 103155 | 15.4388 | 1795 |
| 103156 | 12.2692 | 1782 |
| 103154 | 0.0890 | 35 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 96.08 | gold quality |
| right testis | UBERON:0004534 | 96.00 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.99 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.28 | gold quality |
| right ovary | UBERON:0002118 | 95.16 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.08 | gold quality |
| body of pancreas | UBERON:0001150 | 95.03 | gold quality |
| granulocyte | CL:0000094 | 95.01 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.88 | gold quality |
| body of uterus | UBERON:0009853 | 94.78 | gold quality |
| spleen | UBERON:0002106 | 94.75 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.74 | gold quality |
| endocervix | UBERON:0000458 | 94.72 | gold quality |
| peripheral nervous system | UBERON:0000010 | 94.68 | gold quality |
| nerve | UBERON:0001021 | 94.68 | gold quality |
| tibial nerve | UBERON:0001323 | 94.68 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.61 | gold quality |
| left ovary | UBERON:0002119 | 94.60 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.54 | gold quality |
| ectocervix | UBERON:0012249 | 94.53 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.49 | gold quality |
| skin of leg | UBERON:0001511 | 94.43 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.19 | gold quality |
| right uterine tube | UBERON:0001302 | 94.16 | gold quality |
| left uterine tube | UBERON:0001303 | 94.15 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.12 | gold quality |
| lower esophagus | UBERON:0013473 | 94.08 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.08 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.07 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 93.84 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
23 targeting ENTR1, 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-3148 | 99.97 | 75.06 | 6478 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-122B-5P | 99.46 | 70.81 | 1457 |
| HSA-MIR-5582-5P | 99.27 | 71.42 | 1879 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
| HSA-MIR-3199 | 99.17 | 65.19 | 696 |
| HSA-MIR-8052 | 99.17 | 65.01 | 719 |
| HSA-MIR-6807-3P | 99.15 | 69.23 | 1275 |
| HSA-MIR-140-3P | 99.04 | 67.69 | 1324 |
| HSA-MIR-6829-5P | 98.86 | 65.12 | 1480 |
| HSA-MIR-6776-5P | 98.54 | 67.43 | 1304 |
| HSA-MIR-892B | 98.00 | 67.11 | 821 |
| HSA-MIR-3670 | 97.88 | 64.39 | 763 |
| HSA-MIR-514A-5P | 96.94 | 65.49 | 801 |
| HSA-MIR-6762-5P | 96.55 | 64.62 | 972 |
| HSA-MIR-6845-5P | 96.55 | 64.65 | 969 |
Literature-anchored findings (GeneRIF, showing 4)
- SDCCAG3 is important for protein trafficking and presentation of TNFR1 on the cell surface. (PMID:16332174)
- The novel endosomal protein SDCCAG3 forms a complex with PTPN13 & interacts with GIT1. Interaction of SDCCAG3 with PTPN13 is mediated by the PTPN13 FERM domain & the SDCCAG3 N-terminus. SDCCAG3 expression levels are elevated in colon cancers. (PMID:23108400)
- SDCCAG3 has a role in ciliogenesis and in localization of cargo to primary cilia (PMID:27767179)
- Endosome associated trafficking regulator 1 promotes tumor growth and invasion of glioblastoma multiforme via inhibiting TNF signaling pathway. (PMID:38191954)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | entr1 | ENSDARG00000095515 |
| mus_musculus | Entr1 | ENSMUSG00000026927 |
| rattus_norvegicus | Entr1l3 | ENSRNOG00000018876 |
| rattus_norvegicus | ENSRNOG00000083656 | |
| rattus_norvegicus | ENSRNOG00000085394 |
Protein
Protein identifiers
Endosome-associated-trafficking regulator 1 — Q96C92 (reviewed: Q96C92)
Alternative names: Antigen NY-CO-3, Serologically defined colon cancer antigen 3
All UniProt accessions (4): Q96C92, A0A0A0MRP9, B5MDD7, H7C331
UniProt curated annotations — full annotation on UniProt →
Function. Endosome-associated protein that plays a role in membrane receptor sorting, cytokinesis and ciliogenesis. Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1. Involved in the regulation of cytokinesis; the function may involve PTPN13 and GIT1. Plays a role in the formation of cilia. Involved in cargo protein localization, such as PKD2, at primary cilia. Involved in the presentation of the tumor necrosis factor (TNF) receptor TNFRSF1A on the cell surface, and hence in the modulation of the TNF-induced apoptosis.
Subunit / interactions. Found in a complex with ENTR1, PTPN13 and GIT1. Interacts with PTPN13 (via the FERM domain). Interacts (via N-terminus) with GIT1 (via N- and C-terminus); this interaction is direct. Interacts with NOD2. Interacts (via N-terminus) with IFT88. Interacts with VPS35.
Subcellular location. Cytoplasm. Early endosome. Endosome. Recycling endosome. Midbody. Cytoskeleton. Microtubule organizing center. Centrosome. Cilium basal body.
Tissue specificity. Expressed in the colon (at protein level).
Post-translational modifications. Phosphorylated.
Domain organisation. Tne N-terminal domain is necessary and sufficient for basal body localization and ciliogenesis.
Similarity. Belongs to the ENTR1 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96C92-1 | 1 | yes |
| Q96C92-2 | 2 | |
| Q96C92-3 | 3 | |
| Q96C92-4 | 4 |
RefSeq proteins (3): NP_001034796, NP_001034797, NP_006634 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026757 | ENTR1 | Family |
UniProt features (23 total): sequence variant 5, modified residue 4, region of interest 3, splice variant 3, mutagenesis site 2, sequence conflict 2, compositionally biased region 2, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96C92-F1 | 65.28 | 0.36 |
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 (4): 247, 18, 147, 243
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 190 | disrupts interaction with ptpn13. |
| 194 | disrupts interaction with ptpn13. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 157 (showing top):
GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_CYTOKINESIS, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_CILIUM_ORGANIZATION
GO Biological Process (7): protein transport (GO:0015031), cell projection organization (GO:0030030), endocytic recycling (GO:0032456), regulation of cytokinesis (GO:0032465), positive regulation of cilium assembly (GO:0045724), cell division (GO:0051301), positive regulation of protein localization to cilium (GO:1903566)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (10): endosome (GO:0005768), early endosome (GO:0005769), centrosome (GO:0005813), midbody (GO:0030496), ciliary basal body (GO:0036064), recycling endosome (GO:0055037), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), retromer complex (GO:0030904), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| endomembrane system | 2 |
| endosome | 2 |
| microtubule organizing center | 2 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| cellular component organization | 1 |
| endosomal transport | 1 |
| vesicle-mediated transport to the plasma membrane | 1 |
| cytokinesis | 1 |
| regulation of cell cycle process | 1 |
| regulation of cell division | 1 |
| cilium assembly | 1 |
| positive regulation of plasma membrane bounded cell projection assembly | 1 |
| regulation of cilium assembly | 1 |
| positive regulation of organelle assembly | 1 |
| cellular process | 1 |
| protein localization to cilium | 1 |
| regulation of protein localization to cilium | 1 |
| positive regulation of protein localization | 1 |
| binding | 1 |
| cytoplasmic vesicle | 1 |
| centriole | 1 |
| cilium | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| membrane protein complex | 1 |
Protein interactions and networks
STRING
702 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ENTR1 | PTPN13 | Q12923 | 630 |
| ENTR1 | ANKRD27 | Q96NW4 | 581 |
| ENTR1 | ANKRD50 | Q9ULJ7 | 570 |
| ENTR1 | GPSM1 | Q86YR5 | 565 |
| ENTR1 | CARD9 | Q9H257 | 549 |
| ENTR1 | VPS26A | O75436 | 545 |
| ENTR1 | VPS26B | Q4G0F5 | 543 |
| ENTR1 | VPS29 | Q9UBQ0 | 533 |
| ENTR1 | CENATAC | Q86UT8 | 528 |
| ENTR1 | NKX2-3 | Q8TAU0 | 491 |
| ENTR1 | SLC9A4 | Q6AI14 | 490 |
| ENTR1 | VPS35 | Q96QK1 | 489 |
| ENTR1 | TMEM69 | Q5SWH9 | 477 |
| ENTR1 | PTPN2 | P17706 | 423 |
| ENTR1 | CCP110 | O43303 | 423 |
| ENTR1 | SMC5 | Q8IY18 | 423 |
IntAct
88 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| ODAD1 | HGS | psi-mi:“MI:0914”(association) | 0.850 |
| IFT88 | ENTR1 | psi-mi:“MI:0915”(physical association) | 0.600 |
| ENTR1 | IFT88 | psi-mi:“MI:0403”(colocalization) | 0.600 |
| NOD2 | ENTR1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| ENTR1 | NOD2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| NOD2 | ENTR1 | psi-mi:“MI:2364”(proximity) | 0.550 |
| VPS35 | ENTR1 | psi-mi:“MI:0914”(association) | 0.530 |
| NUP62 | RGPD8 | psi-mi:“MI:0914”(association) | 0.530 |
| AURKA | WDR62 | psi-mi:“MI:0914”(association) | 0.530 |
| HSPA8 | ARHGEF10 | psi-mi:“MI:2364”(proximity) | 0.480 |
| ENTR1 | PKM | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| GSK3B | SEC16A | psi-mi:“MI:2364”(proximity) | 0.420 |
| ENTR1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| ENTR1 | CSNK1E | psi-mi:“MI:0915”(physical association) | 0.370 |
| ENTR1 | AP1M1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OFD1 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| WRAP73 | AKAP8 | psi-mi:“MI:0914”(association) | 0.350 |
| EGLN3 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| ORF2 | PRMT3 | psi-mi:“MI:0914”(association) | 0.350 |
| TNIP2 | TMEM178B | psi-mi:“MI:0914”(association) | 0.350 |
| VPS35 | WASHC1 | psi-mi:“MI:0914”(association) | 0.350 |
| VPS35 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (250): SDCCAG3 (Two-hybrid), SDCCAG3 (Two-hybrid), SDCCAG3 (Two-hybrid), TFPT (Two-hybrid), SDCCAG3 (Affinity Capture-MS), SDCCAG3 (Affinity Capture-MS), SDCCAG3 (Proximity Label-MS), SDCCAG3 (Proximity Label-MS), SDCCAG3 (Proximity Label-MS), SDCCAG3 (Affinity Capture-MS), SDCCAG3 (Proximity Label-MS), SDCCAG3 (Proximity Label-MS), SDCCAG3 (Proximity Label-MS), SDCCAG3 (Proximity Label-MS), SDCCAG3 (Proximity Label-MS)
ESM2 similar proteins: A0FKI7, A2AHC3, A2AIW0, A4IH95, A5WUN7, A5WV69, A6H5Y1, A8MW92, D3Z8E6, P07106, P28290, P59598, Q08AD1, Q12912, Q2PFD7, Q3KQW7, Q4KLH6, Q4V9H5, Q502L1, Q52KN3, Q5R7V3, Q5REF4, Q5RHB5, Q5RJ80, Q5T5Y3, Q5T8D3, Q5XG73, Q5XI67, Q5ZHQ6, Q60664, Q640L3, Q640U0, Q641E3, Q6IRN6, Q6NPP4, Q6NRK3, Q6ZVD7, Q70EL1, Q76N89, Q8IX21
Diamond homologs: A2AIW0, A2CE83, Q28GJ0, Q2KJD6, Q54MB1, Q96C92
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SMURF1 | unknown | ENTR1 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 97 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 |
|---|---|---|---|
| AURKA Activation by TPX2 | 11 | 26.2× | 5e-11 |
| Loss of Nlp from mitotic centrosomes | 10 | 24.8× | 5e-10 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 10 | 24.8× | 5e-10 |
| Anchoring of the basal body to the plasma membrane | 13 | 23.0× | 3e-12 |
| Regulation of PLK1 Activity at G2/M Transition | 11 | 21.8× | 3e-10 |
| Recruitment of mitotic centrosome proteins and complexes | 10 | 21.2× | 2e-09 |
| Recruitment of NuMA to mitotic centrosomes | 10 | 18.2× | 8e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| centrosome duplication | 5 | 53.2× | 5e-06 |
| centriole replication | 6 | 50.0× | 1e-06 |
| non-motile cilium assembly | 6 | 19.8× | 8e-05 |
| centrosome cycle | 5 | 19.1× | 5e-04 |
| mitotic spindle organization | 5 | 15.4× | 9e-04 |
| cilium assembly | 11 | 9.2× | 5e-06 |
| intracellular protein localization | 6 | 7.1× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
147 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 112 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1935 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:136404048:CACT:C | donor_loss | 1.0000 |
| 9:136404052:CACT:C | donor_loss | 1.0000 |
| 9:136404053:A:AC | donor_gain | 1.0000 |
| 9:136404054:C:CC | donor_gain | 1.0000 |
| 9:136404054:CTTG:C | donor_gain | 1.0000 |
| 9:136404083:C:CT | donor_gain | 1.0000 |
| 9:136404192:CGC:C | acceptor_gain | 1.0000 |
| 9:136404195:C:CC | acceptor_gain | 1.0000 |
| 9:136404619:T:TA | donor_gain | 1.0000 |
| 9:136405035:T:A | donor_gain | 1.0000 |
| 9:136405061:G:C | donor_gain | 1.0000 |
| 9:136405066:T:TA | donor_gain | 1.0000 |
| 9:136405089:A:AC | donor_gain | 1.0000 |
| 9:136405090:C:CC | donor_gain | 1.0000 |
| 9:136405090:CGGT:C | donor_gain | 1.0000 |
| 9:136405199:CACC:C | acceptor_gain | 1.0000 |
| 9:136405200:ACC:A | acceptor_gain | 1.0000 |
| 9:136405201:CC:C | acceptor_gain | 1.0000 |
| 9:136405201:CCC:C | acceptor_gain | 1.0000 |
| 9:136405202:CC:C | acceptor_gain | 1.0000 |
| 9:136405202:CCT:C | acceptor_loss | 1.0000 |
| 9:136405203:C:CC | acceptor_gain | 1.0000 |
| 9:136405203:C:T | acceptor_gain | 1.0000 |
| 9:136405204:T:C | acceptor_gain | 1.0000 |
| 9:136405204:T:TC | acceptor_gain | 1.0000 |
| 9:136405207:T:C | acceptor_gain | 1.0000 |
| 9:136405207:T:TC | acceptor_gain | 1.0000 |
| 9:136405899:A:AC | donor_gain | 1.0000 |
| 9:136405900:C:CC | donor_gain | 1.0000 |
| 9:136405900:CATA:C | donor_gain | 1.0000 |
AlphaMissense
2834 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:136404687:C:G | A338P | 0.994 |
| 9:136404678:C:G | A341P | 0.993 |
| 9:136405104:A:G | L331P | 0.993 |
| 9:136402840:A:G | L419P | 0.990 |
| 9:136405956:A:G | L281P | 0.990 |
| 9:136404091:A:G | L391P | 0.988 |
| 9:136404656:A:G | L348P | 0.987 |
| 9:136405094:C:A | M334I | 0.985 |
| 9:136405094:C:G | M334I | 0.985 |
| 9:136405094:C:T | M334I | 0.985 |
| 9:136407901:G:C | F109L | 0.984 |
| 9:136407901:G:T | F109L | 0.984 |
| 9:136407903:A:G | F109L | 0.984 |
| 9:136405944:A:G | L285P | 0.982 |
| 9:136402835:A:G | S421P | 0.981 |
| 9:136402882:A:G | L405P | 0.980 |
| 9:136405191:A:G | L302P | 0.980 |
| 9:136404686:G:T | A338D | 0.979 |
| 9:136404689:C:G | R337P | 0.978 |
| 9:136407886:A:C | F114L | 0.978 |
| 9:136407886:A:T | F114L | 0.978 |
| 9:136407888:A:G | F114L | 0.978 |
| 9:136402840:A:T | L419H | 0.975 |
| 9:136405125:A:T | V324D | 0.975 |
| 9:136405977:A:G | L274P | 0.975 |
| 9:136407895:A:C | F111L | 0.975 |
| 9:136407895:A:T | F111L | 0.975 |
| 9:136407897:A:G | F111L | 0.975 |
| 9:136404635:A:G | L355P | 0.973 |
| 9:136405185:C:G | R304P | 0.971 |
dbSNP variants (sampled 300 via entrez): RS1000280431 (9:136412300 C>A,T), RS1000479449 (9:136412286 A>G), RS1000840705 (9:136408835 G>A), RS1001086175 (9:136405253 G>A), RS1001131871 (9:136411208 C>G,T), RS1001140211 (9:136405464 G>A), RS1001356846 (9:136408977 A>G), RS1001711887 (9:136405219 C>A,T), RS1002343741 (9:136408654 T>C), RS1002711292 (9:136411608 G>A), RS1003093233 (9:136408710 G>A), RS1003099807 (9:136407072 T>C), RS1003144289 (9:136408823 T>C), RS1003309045 (9:136405638 A>G), RS1003489624 (9:136407933 T>C)
Disease associations
OMIM: gene MIM:618289 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000964_39 | Ulcerative colitis | 3.000000e-19 |
| GCST001725_102 | Inflammatory bowel disease | 4.000000e-56 |
| GCST004131_21 | Inflammatory bowel disease | 5.000000e-36 |
| GCST004132_11 | Crohn’s disease | 6.000000e-30 |
| GCST004133_17 | Ulcerative colitis | 2.000000e-16 |
| GCST008643_2 | Joint damage in rheumatoid arthritis | 1.000000e-06 |
| GCST90020028_33 | Hip circumference adjusted for BMI | 4.000000e-08 |
| GCST90020028_34 | Hip circumference adjusted for BMI | 5.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005413 | joint damage measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| cobaltous chloride | decreases expression | 2 |
| Acetaminophen | increases expression, affects response to substance | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bufotalin | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vehicle Emissions | decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Nickel | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Metribolone | increases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 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): Crohn disease, inflammatory bowel disease, ulcerative colitis