CCDC88B
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Also known as FLJ37970BRLZHkRP3FLJ00354GIPIE
Summary
CCDC88B (coiled-coil and HOOK domain protein 88B, HGNC:26757) is a protein-coding gene on chromosome 11q13.1, encoding Coiled-coil domain-containing protein 88B (A6NC98). Acts as a positive regulator of T-cell maturation and inflammatory function.
This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules.
Source: NCBI Gene 283234 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 309 total
- MANE Select transcript:
NM_032251
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26757 |
| Approved symbol | CCDC88B |
| Name | coiled-coil and HOOK domain protein 88B |
| Location | 11q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE |
| Ensembl gene | ENSG00000168071 |
| Ensembl biotype | protein_coding |
| OMIM | 611205 |
| Entrez | 283234 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding_CDS_not_defined, 3 protein_coding
ENST00000356786, ENST00000359902, ENST00000463837, ENST00000472524, ENST00000473405, ENST00000479965, ENST00000492980, ENST00000494080, ENST00000494566, ENST00000971518
RefSeq mRNA: 1 — MANE Select: NM_032251
NM_032251
CCDS: CCDS8072
Canonical transcript exons
ENST00000356786 — 27 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001818105 | 64357039 | 64357534 |
| ENSE00003474725 | 64343778 | 64343914 |
| ENSE00003478300 | 64352744 | 64352887 |
| ENSE00003478396 | 64355194 | 64355400 |
| ENSE00003481174 | 64341599 | 64341742 |
| ENSE00003483990 | 64342294 | 64342375 |
| ENSE00003487269 | 64349551 | 64349668 |
| ENSE00003545794 | 64340907 | 64341018 |
| ENSE00003555804 | 64341109 | 64341178 |
| ENSE00003578450 | 64341270 | 64341328 |
| ENSE00003589035 | 64341994 | 64342139 |
| ENSE00003593272 | 64351476 | 64351616 |
| ENSE00003595943 | 64355560 | 64355628 |
| ENSE00003598759 | 64353715 | 64353813 |
| ENSE00003614379 | 64343997 | 64345157 |
| ENSE00003614910 | 64342522 | 64342680 |
| ENSE00003624092 | 64341421 | 64341504 |
| ENSE00003630673 | 64343507 | 64343615 |
| ENSE00003638117 | 64343179 | 64343325 |
| ENSE00003650835 | 64351160 | 64351255 |
| ENSE00003653068 | 64353351 | 64353496 |
| ENSE00003657138 | 64352130 | 64352386 |
| ENSE00003657451 | 64354004 | 64354170 |
| ENSE00003657483 | 64340204 | 64340326 |
| ENSE00003660362 | 64349331 | 64349458 |
| ENSE00003660820 | 64353054 | 64353240 |
| ENSE00003688799 | 64340607 | 64340752 |
Expression profiles
Bgee: expression breadth ubiquitous, 165 present calls, max score 98.54.
FANTOM5 (CAGE): breadth broad, TPM avg 10.5424 / max 2305.5955, expressed in 910 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 114954 | 8.7809 | 520 |
| 114955 | 0.9598 | 261 |
| 114964 | 0.4525 | 266 |
| 114963 | 0.1774 | 57 |
| 114959 | 0.0892 | 32 |
| 114958 | 0.0519 | 15 |
| 114961 | 0.0204 | 4 |
| 114962 | 0.0103 | 4 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 98.54 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.75 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.66 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.58 | gold quality |
| cerebellum | UBERON:0002037 | 95.94 | gold quality |
| spleen | UBERON:0002106 | 95.50 | gold quality |
| vermiform appendix | UBERON:0001154 | 94.33 | gold quality |
| monocyte | CL:0000576 | 94.04 | gold quality |
| leukocyte | CL:0000738 | 93.98 | gold quality |
| bone marrow cell | CL:0002092 | 93.91 | gold quality |
| blood | UBERON:0000178 | 93.77 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.85 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.14 | gold quality |
| lymph node | UBERON:0000029 | 89.25 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 87.85 | gold quality |
| transverse colon | UBERON:0001157 | 87.35 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 87.10 | gold quality |
| small intestine | UBERON:0002108 | 87.02 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 86.67 | silver quality |
| apex of heart | UBERON:0002098 | 86.42 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 85.97 | gold quality |
| right testis | UBERON:0004534 | 85.84 | gold quality |
| minor salivary gland | UBERON:0001830 | 85.82 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 85.81 | gold quality |
| right lung | UBERON:0002167 | 85.71 | gold quality |
| bone marrow | UBERON:0002371 | 85.58 | gold quality |
| left testis | UBERON:0004533 | 85.54 | gold quality |
| caecum | UBERON:0001153 | 85.06 | gold quality |
| gall bladder | UBERON:0002110 | 85.06 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 84.46 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.06 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
7 targeting CCDC88B, 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-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-361-3P | 99.19 | 66.45 | 1381 |
| HSA-MIR-6829-5P | 98.86 | 65.12 | 1480 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-6765-3P | 97.83 | 64.59 | 1165 |
| HSA-MIR-1587 | 96.95 | 64.03 | 932 |
| HSA-MIR-4749-3P | 96.40 | 66.24 | 798 |
Literature-anchored findings (GeneRIF, showing 4)
- Data show that a novel Girdin family protein, Gipie, is expressed in endothelial cells, where it interacts with GRP78, a master regulator of the UPR, and that Gipie/GRP78 interaction controls the IRE1-JNK signaling pathway. (PMID:21289099)
- A genotype dataset found a sarcoidosis risk locus on chromosome 11q13.1, a risk region for Crohn disease. An allele-dependent expression of CCDC88B was found in bronchoalveolar lavage samples of German, Swedish and Czech patients with sarcoidosis. (PMID:22837380)
- results demonstrate an important role for HkRP3 in regulating the clustering of lytic granules and MTOC repositioning during the development of NK cell-mediated killing. (PMID:25762780)
- A critical function of CCDC88B in colonic inflammation and inflammatory bowel disease (PMID:29030607)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ccdc88b | ENSDARG00000076189 |
| mus_musculus | Ccdc88b | ENSMUSG00000047810 |
| rattus_norvegicus | Ccdc88b | ENSRNOG00000024931 |
| drosophila_melanogaster | hook | FBGN0001202 |
| drosophila_melanogaster | Girdin | FBGN0283724 |
| caenorhabditis_elegans | WBGENE00006997 | |
| caenorhabditis_elegans | WBGENE00013082 |
Paralogs (5): CCDC88C (ENSG00000015133), HOOK2 (ENSG00000095066), CCDC88A (ENSG00000115355), HOOK1 (ENSG00000134709), HOOK3 (ENSG00000168172)
Protein
Protein identifiers
Coiled-coil domain-containing protein 88B — A6NC98 (reviewed: A6NC98)
Alternative names: Brain leucine zipper domain-containing protein, Gipie, Hook-related protein 3
All UniProt accessions (2): A6NC98, H7BY33
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a positive regulator of T-cell maturation and inflammatory function. Required for several functions of T-cells, in both the CD4(+) and the CD8(+) compartments and this includes expression of cell surface markers of activation, proliferation, and cytokine production in response to specific or non-specific stimulation. Enhances NK cell cytotoxicity by positively regulating polarization of microtubule-organizing center (MTOC) to cytotoxic synapse, lytic granule transport along microtubules, and dynein-mediated clustering to MTOC. Interacts with HSPA5 and stabilizes the interaction between HSPA5 and ERN1, leading to suppression of ERN1-induced JNK activation and endoplasmic reticulum stress-induced apoptosis.
Subunit / interactions. Homodimer. Interacts with DOCK8. Interacts (via C-terminus) with intact microtubules. Interacts with dynein-dynactin motor complex. Interacts (via C-terminus) with HSPA5.
Subcellular location. Membrane. Cytoplasm. Cytoskeleton. Microtubule organizing center. Endoplasmic reticulum. Golgi apparatus.
Tissue specificity. Expressed in endothelium (at protein level). Expressed in NK cells (at protein level).
Induction. By endoplasmic reticulum stress.
Similarity. Belongs to the CCDC88 family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A6NC98-1 | 1 | yes |
| A6NC98-2 | 2 | |
| A6NC98-3 | 3 | |
| A6NC98-4 | 4 | |
| A6NC98-5 | 5 | |
| A6NC98-6 | 6 |
RefSeq proteins (1): NP_115627* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR036872 | CH_dom_sf | Homologous_superfamily |
| IPR043936 | HOOK_N | Domain |
Pfam: PF19047
UniProt features (33 total): splice variant 12, compositionally biased region 5, region of interest 4, modified residue 4, sequence variant 3, sequence conflict 2, coiled-coil region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A6NC98-F1 | 70.19 | 0.38 |
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): 436, 596, 1348, 1379
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 150 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, chr11q13, GOCC_MICROTUBULE_ORGANIZING_CENTER, COUP_01, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_CELL_CELL_ADHESION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_LEUKOCYTE_PROLIFERATION, GOBP_RESPONSE_TO_PROTOZOAN, GOBP_CYTOKINE_PRODUCTION
GO Biological Process (6): positive regulation of cytokine production (GO:0001819), cytoskeleton-dependent intracellular transport (GO:0030705), cytoplasmic microtubule organization (GO:0031122), positive regulation of T cell proliferation (GO:0042102), defense response to protozoan (GO:0042832), positive regulation of T cell activation (GO:0050870)
GO Molecular Function (3): microtubule binding (GO:0008017), dynein light intermediate chain binding (GO:0051959), protein binding (GO:0005515)
GO Cellular Component (9): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), centrosome (GO:0005813), cytosol (GO:0005829), membrane (GO:0016020), microtubule organizing center (GO:0005815), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| cytoplasm | 3 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| cytokine production | 1 |
| regulation of cytokine production | 1 |
| positive regulation of gene expression | 1 |
| positive regulation of multicellular organismal process | 1 |
| intracellular transport | 1 |
| microtubule cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| T cell proliferation | 1 |
| regulation of T cell proliferation | 1 |
| positive regulation of lymphocyte proliferation | 1 |
| positive regulation of T cell activation | 1 |
| response to protozoan | 1 |
| defense response to other organism | 1 |
| T cell activation | 1 |
| regulation of T cell activation | 1 |
| positive regulation of lymphocyte activation | 1 |
| positive regulation of leukocyte cell-cell adhesion | 1 |
| tubulin binding | 1 |
| protein binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| microtubule cytoskeleton | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1691 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CCDC88B | HOOK1 | Q9UJC3 | 762 |
| CCDC88B | GNAI3 | P08754 | 655 |
| CCDC88B | COPB1 | P53618 | 520 |
| CCDC88B | GPR137 | Q96N19 | 496 |
| CCDC88B | MYH1 | P12882 | 493 |
| CCDC88B | HSPA5 | P11021 | 490 |
| CCDC88B | KCNK4 | Q9NYG8 | 485 |
| CCDC88B | PUS7L | Q9H0K6 | 439 |
| CCDC88B | ITSN1 | Q15811 | 433 |
| CCDC88B | TRMT112 | Q9UI30 | 412 |
| CCDC88B | MEX3C | Q5U5Q3 | 397 |
| CCDC88B | ASB2 | Q96Q27 | 379 |
| CCDC88B | CCDC122 | Q5T0U0 | 373 |
| CCDC88B | FAM151B | Q6UXP7 | 364 |
| CCDC88B | ZNF684 | Q5T5D7 | 354 |
IntAct
121 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CCDC88B | ZC2HC1C | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | GEM | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | LNX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | RBM7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | TSG101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | HCK | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | LMO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | TBC1D22B | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | NME7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | RINT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | JAKMIP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | EXOSC5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | FAM161A | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | LMNB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | DEF6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | BEX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | TXLNB | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | FAM161B | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | TSGA10IP | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | AIRIM | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | CCHCR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | KANK2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | SH3KBP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | SH2D4A | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | LMNB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | TRAF3IP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | RALBP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | PPP1R18 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | PIN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (44): CCDC88B (Biochemical Activity), CCDC88B (Affinity Capture-MS), CCDC88B (Two-hybrid), CCDC88B (Two-hybrid), CCDC88B (Two-hybrid), CCDC88B (Two-hybrid), CCDC88B (Two-hybrid), CCDC88B (Two-hybrid), CCDC88B (Two-hybrid), CCDC88B (Two-hybrid), CCDC88B (Two-hybrid), CCDC88B (Two-hybrid), CCDC88B (Two-hybrid), CCDC88B (Two-hybrid), CCDC88B (Two-hybrid)
ESM2 similar proteins: A0A140LIT1, A0A1B0GVG4, A0JNH6, A1A5D9, A6NC98, A6NGB0, A6NJZ7, A6NNM3, F6XLV1, O15049, O54887, P0C7N4, P58660, P60531, Q0D2H9, Q0P5D1, Q2KJ21, Q2TAC2, Q3LUD3, Q3T1I3, Q3TMW1, Q3V0F0, Q4QRL3, Q5JTB6, Q5RD60, Q66HR5, Q6NSJ2, Q6PHN1, Q6QZQ4, Q80VM7, Q8BP01, Q8C7U1, Q8CB62, Q8CGU1, Q8CHW5, Q8K2I2, Q8N137, Q8N283, Q8N6Y0, Q8R370
Diamond homologs: A0A2R8QCI3, A6NC98, B4KE73, F3Y5P4, O61493, P85120, Q3V6T2, Q4QRL3, Q5SNZ0, Q6VGS5, Q7PWT9, Q86VS8, Q8BUK6, Q9P219, B4N1C2, Q7TMK6, B0WPU9, B3MNR6, B3NL60, B4I5P7, B4PAF2, B4Q9E6, Q24185, Q6GQ73
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
309 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 276 |
| Likely benign | 9 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3936 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:64341107:A:AG | acceptor_gain | 1.0000 |
| 11:64341108:G:GG | acceptor_gain | 1.0000 |
| 11:64341268:A:AG | acceptor_gain | 1.0000 |
| 11:64341269:G:GT | acceptor_gain | 1.0000 |
| 11:64341269:GAA:G | acceptor_gain | 1.0000 |
| 11:64341329:G:GG | donor_gain | 1.0000 |
| 11:64341329:GTG:G | donor_loss | 1.0000 |
| 11:64341419:A:AG | acceptor_gain | 1.0000 |
| 11:64341419:AGT:A | acceptor_gain | 1.0000 |
| 11:64341419:AGTGT:A | acceptor_gain | 1.0000 |
| 11:64341420:G:GG | acceptor_gain | 1.0000 |
| 11:64341420:GT:G | acceptor_gain | 1.0000 |
| 11:64341420:GTG:G | acceptor_gain | 1.0000 |
| 11:64341420:GTGT:G | acceptor_gain | 1.0000 |
| 11:64341420:GTGTG:G | acceptor_gain | 1.0000 |
| 11:64341502:G:GT | donor_gain | 1.0000 |
| 11:64341721:G:GT | donor_gain | 1.0000 |
| 11:64341723:A:T | donor_gain | 1.0000 |
| 11:64341741:AG:A | donor_loss | 1.0000 |
| 11:64341742:GG:G | donor_loss | 1.0000 |
| 11:64341743:GTAG:G | donor_loss | 1.0000 |
| 11:64341744:T:G | donor_loss | 1.0000 |
| 11:64341991:CAGC:C | acceptor_loss | 1.0000 |
| 11:64341992:A:AG | acceptor_gain | 1.0000 |
| 11:64341992:AGC:A | acceptor_gain | 1.0000 |
| 11:64341992:AGCG:A | acceptor_gain | 1.0000 |
| 11:64341993:G:GT | acceptor_gain | 1.0000 |
| 11:64341993:GC:G | acceptor_gain | 1.0000 |
| 11:64341993:GCG:G | acceptor_gain | 1.0000 |
| 11:64341993:GCGG:G | acceptor_gain | 1.0000 |
AlphaMissense
9333 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:64353397:T:C | L1245P | 0.995 |
| 11:64353364:T:C | L1234P | 0.994 |
| 11:64353765:T:C | I1295T | 0.994 |
| 11:64340324:T:A | W20R | 0.993 |
| 11:64340324:T:C | W20R | 0.993 |
| 11:64340326:G:C | W20C | 0.993 |
| 11:64340326:G:T | W20C | 0.993 |
| 11:64353753:T:C | L1291P | 0.993 |
| 11:64341497:T:A | I175N | 0.992 |
| 11:64354028:G:C | K1319N | 0.992 |
| 11:64354028:G:T | K1319N | 0.992 |
| 11:64353352:T:C | L1230P | 0.990 |
| 11:64353765:T:G | I1295S | 0.990 |
| 11:64341485:T:C | L171P | 0.989 |
| 11:64341497:T:C | I175T | 0.989 |
| 11:64352377:T:C | L1116P | 0.989 |
| 11:64341440:T:C | F156S | 0.988 |
| 11:64341452:T:C | I160T | 0.988 |
| 11:64353391:G:C | R1243P | 0.988 |
| 11:64355319:T:C | F1409L | 0.988 |
| 11:64355321:C:A | F1409L | 0.988 |
| 11:64355321:C:G | F1409L | 0.988 |
| 11:64355349:T:C | F1419L | 0.987 |
| 11:64355351:C:A | F1419L | 0.987 |
| 11:64355351:C:G | F1419L | 0.987 |
| 11:64352339:G:C | K1103N | 0.986 |
| 11:64352339:G:T | K1103N | 0.986 |
| 11:64353224:T:C | L1224P | 0.986 |
| 11:64353439:T:C | L1259P | 0.986 |
| 11:64341452:T:A | I160N | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1000167890 (11:64342443 C>T), RS1000173374 (11:64349207 A>C,G), RS1000383749 (11:64343798 C>A,G,T), RS1000436154 (11:64355197 C>A), RS1000475294 (11:64354960 T>C), RS1000504309 (11:64350434 C>T), RS1000519783 (11:64342660 G>C), RS1000610478 (11:64356407 T>A), RS1000686696 (11:64354261 C>G,T), RS1000764334 (11:64350634 C>T), RS1000976139 (11:64354401 C>A,T), RS1001499368 (11:64343878 G>A,C,T), RS1001944855 (11:64350876 A>G), RS1002004708 (11:64349670 T>A), RS1002034754 (11:64338404 G>A)
Disease associations
OMIM: gene MIM:611205 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001622_1 | Sarcoidosis | 3.000000e-18 |
| GCST001725_12 | Inflammatory bowel disease | 4.000000e-11 |
| GCST002772_15 | Leprosy | 9.000000e-14 |
| GCST003129_14 | Primary biliary cholangitis | 2.000000e-09 |
| GCST004030_14 | Primary sclerosing cholangitis | 2.000000e-13 |
| GCST004132_98 | Crohn’s disease | 5.000000e-06 |
| GCST007932_47 | Medication use (thyroid preparations) | 2.000000e-09 |
| GCST008870_33 | Keratinocyte cancer (MTAG) | 2.000000e-09 |
| GCST008871_27 | Basal cell carcinoma | 3.000000e-10 |
| GCST010173_19 | Triglyceride levels | 2.000000e-21 |
| GCST90013410_25 | Basal cell carcinoma | 2.000000e-09 |
| GCST90013445_3 | Type 1 diabetes | 3.000000e-09 |
| GCST90013445_63 | Type 1 diabetes | 3.000000e-09 |
| GCST90020025_1869 | Waist-to-hip ratio adjusted for BMI | 3.000000e-29 |
| GCST90020026_501 | Hip index | 2.000000e-18 |
| GCST90020027_1471 | Waist-hip index | 2.000000e-29 |
| GCST90020028_1986 | Hip circumference adjusted for BMI | 1.000000e-14 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009933 | Thyroid preparation use measurement |
| EFO:0010176 | keratinocyte carcinoma |
| EFO:0004530 | triglyceride measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| 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
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation | 2 |
| sodium arsenite | increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Cisplatin | decreases expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| bromovanin | decreases expression | 1 |
| jinfukang | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Camptothecin | increases expression | 1 |
| Diuron | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | increases expression | 1 |
| Vitamin K 3 | affects 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): basal cell carcinoma, leprosy, primary biliary cholangitis, sarcoidosis