TBC1D10C
gene geneOn this page
Also known as FLJ00332CarabinEPI64C
Summary
TBC1D10C (TBC1 domain family member 10C, HGNC:24702) is a protein-coding gene on chromosome 11q13.2, encoding Carabin (Q8IV04). Inhibits the Ras signaling pathway through its intrinsic Ras GTPase-activating protein (GAP) activity.
The protein encoded by this gene has an N-terminal Rab-GTPase domain and a binding site at the C-terminus for calcineurin, and is an inhibitor of both the Ras signaling pathway and calcineurin, a phosphatase regulated by calcium and calmodulin. Genes encoding similar proteins are located on chromosomes 16 and 22. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 374403 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 87 total
- MANE Select transcript:
NM_001369496
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24702 |
| Approved symbol | TBC1D10C |
| Name | TBC1 domain family member 10C |
| Location | 11q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ00332, Carabin, EPI64C |
| Ensembl gene | ENSG00000175463 |
| Ensembl biotype | protein_coding |
| OMIM | 610831 |
| Entrez | 374403 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 15 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay
ENST00000312390, ENST00000524662, ENST00000526387, ENST00000526474, ENST00000529132, ENST00000529635, ENST00000530967, ENST00000533745, ENST00000542590, ENST00000868931, ENST00000868932, ENST00000868933, ENST00000868934, ENST00000868935, ENST00000868936, ENST00000946007, ENST00000946008, ENST00000946009, ENST00000946010, ENST00000946011, ENST00000946012
RefSeq mRNA: 8 — MANE Select: NM_001369496
NM_001256508, NM_001369492, NM_001369494, NM_001369495, NM_001369496, NM_001369497, NM_001369498, NM_198517
CCDS: CCDS58150, CCDS8162
Canonical transcript exons
ENST00000542590 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002154148 | 67404083 | 67404354 |
| ENSE00002227202 | 67409407 | 67410089 |
| ENSE00003461941 | 67405399 | 67405506 |
| ENSE00003500550 | 67405903 | 67406017 |
| ENSE00003557963 | 67406627 | 67406692 |
| ENSE00003570585 | 67405595 | 67405701 |
| ENSE00003596500 | 67405085 | 67405184 |
| ENSE00003642558 | 67408979 | 67409133 |
| ENSE00003693919 | 67406827 | 67407016 |
Expression profiles
Bgee: expression breadth ubiquitous, 175 present calls, max score 99.24.
FANTOM5 (CAGE): breadth broad, TPM avg 4.2513 / max 159.2340, expressed in 325 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 115449 | 2.6904 | 255 |
| 115448 | 0.7466 | 185 |
| 115452 | 0.3457 | 83 |
| 115453 | 0.2004 | 90 |
| 115450 | 0.1490 | 74 |
| 115451 | 0.1192 | 66 |
Top tissues by expression
237 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 99.24 | gold quality |
| blood | UBERON:0000178 | 96.71 | gold quality |
| spleen | UBERON:0002106 | 95.98 | gold quality |
| lymph node | UBERON:0000029 | 95.54 | gold quality |
| bone marrow cell | CL:0002092 | 94.77 | gold quality |
| vermiform appendix | UBERON:0001154 | 94.19 | gold quality |
| thymus | UBERON:0002370 | 92.73 | gold quality |
| leukocyte | CL:0000738 | 91.98 | gold quality |
| monocyte | CL:0000576 | 91.49 | gold quality |
| bone marrow | UBERON:0002371 | 90.35 | gold quality |
| caecum | UBERON:0001153 | 87.75 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 86.48 | gold quality |
| tonsil | UBERON:0002372 | 85.31 | gold quality |
| small intestine | UBERON:0002108 | 83.92 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 82.74 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 82.62 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 81.80 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 81.73 | gold quality |
| right lung | UBERON:0002167 | 81.33 | gold quality |
| thyroid gland | UBERON:0002046 | 81.10 | gold quality |
| upper lobe of lung | UBERON:0008948 | 80.81 | gold quality |
| colonic epithelium | UBERON:0000397 | 80.61 | gold quality |
| gall bladder | UBERON:0002110 | 80.44 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 79.54 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 78.80 | gold quality |
| right uterine tube | UBERON:0001302 | 77.44 | gold quality |
| lung | UBERON:0002048 | 75.98 | gold quality |
| body of stomach | UBERON:0001161 | 75.43 | gold quality |
| superficial temporal artery | UBERON:0001614 | 75.13 | silver quality |
| duodenum | UBERON:0002114 | 75.01 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 32.50 |
| E-MTAB-10287 | yes | 30.65 |
| E-MTAB-8410 | yes | 13.84 |
| E-ANND-3 | yes | 8.88 |
| E-CURD-120 | no | 7.43 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting TBC1D10C, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-5580-5P | 99.38 | 66.96 | 1139 |
| HSA-MIR-4758-3P | 99.12 | 63.96 | 869 |
| HSA-MIR-4699-5P | 98.99 | 67.50 | 1210 |
| HSA-MIR-4742-5P | 98.89 | 68.41 | 1542 |
| HSA-MIR-5006-5P | 98.79 | 66.92 | 1246 |
| HSA-MIR-26B-3P | 98.71 | 67.49 | 1102 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-1271-3P | 97.56 | 64.85 | 865 |
| HSA-MIR-550A-3-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-550A-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-4286 | 97.20 | 64.37 | 1587 |
| HSA-MIR-5588-3P | 94.96 | 65.59 | 500 |
Literature-anchored findings (GeneRIF, showing 5)
- Carabin inhibits calcineurin and Ras and was identified by a yeast-two-hybrid screen with calcineurin (PMID:17230191)
- Carabin is a negative feedback inhibitor of the calcineurin signalling pathway that also mediates crosstalk between calcineurin and Ras (PMID:17230191)
- Carabin as a new negative regulator of B-cell function, whose deficiency in B cells speeds up early B-cell responses (PMID:23109291)
- identify prolyl 4-hydroxylase 2 (P4HA2) as a specific proline hydroxylase of Carabin. Carabin hydroxylation leads to its proteasomal degradation, thereby activating the Ras/extracellular signal-regulated kinase pathway and increasing B-cell lymphoma proliferation. (PMID:29437589)
- Weighted Gene Coexpression Network Analysis Identifies TBC1D10C as a New Prognostic Biomarker for Breast Cancer. (PMID:35425695)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tbc1d10c | ENSDARG00000037408 |
| mus_musculus | Tbc1d10c | ENSMUSG00000040247 |
| rattus_norvegicus | Tbc1d10c | ENSRNOG00000021510 |
Paralogs (45): RABGAP1 (ENSG00000011454), TBC1D22A (ENSG00000054611), TBC1D22B (ENSG00000065491), TBC1D1 (ENSG00000065882), EVI5 (ENSG00000067208), TBC1D25 (ENSG00000068354), TBC1D2 (ENSG00000095383), TBC1D10A (ENSG00000099992), SGSM3 (ENSG00000100359), TBC1D17 (ENSG00000104946), TBC1D13 (ENSG00000107021), TBC1D12 (ENSG00000108239), TBC1D9 (ENSG00000109436), TBC1D30 (ENSG00000111490), TBC1D15 (ENSG00000121749), TBC1D5 (ENSG00000131374), TBC1D14 (ENSG00000132405), TBC1D8B (ENSG00000133138), TBC1D4 (ENSG00000136111), GRTP1 (ENSG00000139835), SGSM2 (ENSG00000141258), EVI5L (ENSG00000142459), TBCK (ENSG00000145348), USP6NL (ENSG00000148429), RABGAP1L (ENSG00000152061), SGSM1 (ENSG00000167037), TBC1D21 (ENSG00000167139), TBC1D2B (ENSG00000167202), TBC1D16 (ENSG00000167291), TBC1D10B (ENSG00000169221), TBC1D28 (ENSG00000189375), TBC1D9B (ENSG00000197226), TBC1D8 (ENSG00000204634), TBC1D26 (ENSG00000214946), TBC1D3G (ENSG00000260287), TBC1D3K (ENSG00000273513), TBC1D3H (ENSG00000274226), TBC1D3D (ENSG00000274419), TBC1D3L (ENSG00000274512), TBC1D3 (ENSG00000274611)
Protein
Protein identifiers
Carabin — Q8IV04 (reviewed: Q8IV04)
Alternative names: TBC1 domain family member 10C
All UniProt accessions (2): E9PSB7, Q8IV04
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits the Ras signaling pathway through its intrinsic Ras GTPase-activating protein (GAP) activity. Acts as a negative feedback inhibitor of the calcineurin signaling pathway that also mediates crosstalk between calcineurin and Ras.
Subunit / interactions. Interacts with both calcineurin and HRAS.
Tissue specificity. Most abundant in spleen and peripheral blood leukocytes.
Domain organisation. The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab’s ‘switch 2’ glutamine and insert in Rab’s active site.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IV04-1 | 1 | yes |
| Q8IV04-2 | 2 |
RefSeq proteins (8): NP_001243437, NP_001356421, NP_001356423, NP_001356424, NP_001356425, NP_001356426, NP_001356427, NP_940919 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000195 | Rab-GAP-TBC_dom | Domain |
| IPR035969 | Rab-GAP_TBC_sf | Homologous_superfamily |
| IPR050302 | Rab_GAP_TBC_domain | Family |
Pfam: PF00566
UniProt features (13 total): region of interest 3, compositionally biased region 3, splice variant 2, site 2, chain 1, domain 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IV04-F1 | 82.08 | 0.69 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 137 (arginine finger); 178 (glutamine finger)
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 141 | loss of gap activity. |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-8854214 | TBC/RABGAPs |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-9007101 | Rab regulation of trafficking |
MSigDB gene sets: 169 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE, REACTOME_INNATE_IMMUNE_SYSTEM, ZHAN_MULTIPLE_MYELOMA_PR_DN, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, GOBP_B_CELL_ACTIVATION, GOCC_SECRETORY_GRANULE, GOBP_NEGATIVE_REGULATION_OF_B_CELL_ACTIVATION, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, chr11q13, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS
GO Biological Process (7): calcineurin-NFAT signaling cascade (GO:0033173), B cell activation (GO:0042113), retrograde transport, endosome to Golgi (GO:0042147), negative regulation of B cell activation (GO:0050869), ERK1 and ERK2 cascade (GO:0070371), negative regulation of ERK1 and ERK2 cascade (GO:0070373), negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)
GO Molecular Function (2): GTPase activator activity (GO:0005096), protein binding (GO:0005515)
GO Cellular Component (5): cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), filopodium membrane (GO:0031527), ficolin-1-rich granule membrane (GO:0101003)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Rab regulation of trafficking | 1 |
| Immune System | 1 |
| Vesicle-mediated transport | 1 |
| Membrane Trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| calcineurin-mediated signaling | 1 |
| lymphocyte activation | 1 |
| intercellular transport | 1 |
| endosomal transport | 1 |
| cytosolic transport | 1 |
| B cell activation | 1 |
| regulation of B cell activation | 1 |
| negative regulation of lymphocyte activation | 1 |
| MAPK cascade | 1 |
| negative regulation of MAPK cascade | 1 |
| ERK1 and ERK2 cascade | 1 |
| regulation of ERK1 and ERK2 cascade | 1 |
| calcineurin-NFAT signaling cascade | 1 |
| regulation of calcineurin-NFAT signaling cascade | 1 |
| negative regulation of calcineurin-mediated signaling | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| filopodium | 1 |
| cell projection membrane | 1 |
| secretory granule membrane | 1 |
| tertiary granule | 1 |
| ficolin-1-rich granule | 1 |
Protein interactions and networks
STRING
940 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TBC1D10C | RASA1 | P20936 | 667 |
| TBC1D10C | TBC1D13 | Q9NVG8 | 618 |
| TBC1D10C | RAB35 | Q15286 | 609 |
| TBC1D10C | TBC1D22B | Q9NU19 | 593 |
| TBC1D10C | TBC1D19 | Q8N5T2 | 592 |
| TBC1D10C | TBC1D21 | Q8IYX1 | 589 |
| TBC1D10C | TBC1D20 | Q96BZ9 | 539 |
| TBC1D10C | TBC1D5 | Q92609 | 527 |
| TBC1D10C | TBC1D22A | Q8WUA7 | 482 |
| TBC1D10C | TBC1D7 | Q9P0N9 | 474 |
| TBC1D10C | TBC1D15 | Q8TC07 | 440 |
| TBC1D10C | TBC1D16 | Q8TBP0 | 427 |
| TBC1D10C | TBC1D17 | Q9HA65 | 426 |
| TBC1D10C | IL2 | P01585 | 424 |
| TBC1D10C | ACAP1 | Q15027 | 415 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TBC1D10C | HOXA1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KLHL12 | TBC1D10C | psi-mi:“MI:0915”(physical association) | 0.720 |
| HOXA1 | TBC1D10C | psi-mi:“MI:0915”(physical association) | 0.720 |
| TBC1D10C | KLHL12 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TBC1D10C | KRTAP5-9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLA | TBC1D10C | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBC1D10C | psi-mi:“MI:0915”(physical association) | 0.560 | |
| KRTAP5-9 | TBC1D10C | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBC1D10C | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHANK1 | TBC1D10C | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| METTL3 | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
| CHD8 | IGLV4-60 | psi-mi:“MI:0914”(association) | 0.350 |
| TBC1D10C | KLHL12 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TBC1D10C | HOXA1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (16): TBC1D10C (Two-hybrid), TBC1D10C (Two-hybrid), TBC1D10C (Two-hybrid), TBC1D10C (Two-hybrid), NOTCH2NL (Two-hybrid), TBC1D10C (Affinity Capture-MS), TBC1D10C (Two-hybrid), TBC1D10C (Two-hybrid), TBC1D10C (Affinity Capture-MS), TBC1D10C (Affinity Capture-RNA), TBC1D10C (Affinity Capture-MS), TBC1D10C (Affinity Capture-MS), TBC1D10C (Affinity Capture-MS), TBC1D10C (Affinity Capture-MS), TBC1D10C (Reconstituted Complex)
ESM2 similar proteins: A6H8I2, A6QP29, B1AVH7, B2DD29, B5DFA1, D2H0G5, O14976, O43147, O60343, O95398, P58802, P98171, Q08493, Q2KI13, Q3U1Y4, Q4KMP7, Q5DU57, Q5RJI5, Q5SVR0, Q60949, Q66K14, Q69Z98, Q6P6R7, Q6TLK4, Q7T2D0, Q7TSI1, Q80U12, Q86TI0, Q86VW2, Q8BHL3, Q8BYJ6, Q8C9V1, Q8IV04, Q8IWQ3, Q8K337, Q8TC07, Q8TDC3, Q8TDY4, Q8VCC8, Q8VCZ6
Diamond homologs: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A2AWA9, A3KGB4, A6H6A9, A6NDS4, A6NER0, A6QP29, B0R0W9, B7ZAP0, B9A6J9, H2KZZ6, O60343, O60447, O95759, O97790, P0C7X1, P35125, P58802, P97366, Q0IIM8, Q10496, Q12317, Q12344, Q28CB1, Q3UYK3, Q4KMP7, Q5R372, Q5RAN1, Q5RCW6, Q5SVR0, Q5TC63, Q5ZJ17, Q60949, Q66K14, Q6DHY5, Q6IPX1, Q6ZT07
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 70 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2637 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:67398643:GAT:G | acceptor_gain | 1.0000 |
| 11:67398646:C:CC | acceptor_gain | 1.0000 |
| 11:67398646:CTA:C | acceptor_loss | 1.0000 |
| 11:67398717:CTCA:C | donor_loss | 1.0000 |
| 11:67398718:TCA:T | donor_loss | 1.0000 |
| 11:67398719:CACCT:C | donor_loss | 1.0000 |
| 11:67398720:A:AC | donor_gain | 1.0000 |
| 11:67398720:ACCTG:A | donor_loss | 1.0000 |
| 11:67398721:C:CC | donor_gain | 1.0000 |
| 11:67398721:C:CT | donor_loss | 1.0000 |
| 11:67398721:CCT:C | donor_gain | 1.0000 |
| 11:67398852:ACCAC:A | acceptor_gain | 1.0000 |
| 11:67398853:CCAC:C | acceptor_gain | 1.0000 |
| 11:67398853:CCACC:C | acceptor_gain | 1.0000 |
| 11:67398854:C:CT | acceptor_gain | 1.0000 |
| 11:67398854:CAC:C | acceptor_gain | 1.0000 |
| 11:67398855:AC:A | acceptor_gain | 1.0000 |
| 11:67398856:CC:C | acceptor_gain | 1.0000 |
| 11:67398857:C:CC | acceptor_gain | 1.0000 |
| 11:67398857:C:T | acceptor_gain | 1.0000 |
| 11:67398862:C:CT | acceptor_gain | 1.0000 |
| 11:67398937:CACC:C | donor_loss | 1.0000 |
| 11:67398938:ACC:A | donor_loss | 1.0000 |
| 11:67399159:CAGGC:C | acceptor_gain | 1.0000 |
| 11:67399160:AGGC:A | acceptor_gain | 1.0000 |
| 11:67399161:GGC:G | acceptor_gain | 1.0000 |
| 11:67399164:C:CC | acceptor_gain | 1.0000 |
| 11:67399164:CTG:C | acceptor_loss | 1.0000 |
| 11:67399173:C:CT | acceptor_gain | 1.0000 |
| 11:67399555:CCTCA:C | donor_loss | 1.0000 |
AlphaMissense
2817 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:67405450:T:A | W102R | 0.999 |
| 11:67405450:T:C | W102R | 0.999 |
| 11:67405452:G:C | W102C | 0.999 |
| 11:67405452:G:T | W102C | 0.999 |
| 11:67405679:T:C | F149L | 0.999 |
| 11:67405681:T:A | F149L | 0.999 |
| 11:67405681:T:G | F149L | 0.999 |
| 11:67404326:T:C | F42L | 0.998 |
| 11:67404327:T:C | F42S | 0.998 |
| 11:67404328:C:A | F42L | 0.998 |
| 11:67404328:C:G | F42L | 0.998 |
| 11:67405131:T:A | W67R | 0.998 |
| 11:67405131:T:C | W67R | 0.998 |
| 11:67405133:G:C | W67C | 0.998 |
| 11:67405133:G:T | W67C | 0.998 |
| 11:67405680:T:C | F149S | 0.998 |
| 11:67405680:T:G | F149C | 0.998 |
| 11:67406998:G:C | D274H | 0.998 |
| 11:67405638:T:A | I135N | 0.997 |
| 11:67405647:A:C | D138A | 0.997 |
| 11:67405661:T:C | F143L | 0.997 |
| 11:67405662:T:C | F143S | 0.997 |
| 11:67405663:C:A | F143L | 0.997 |
| 11:67405663:C:G | F143L | 0.997 |
| 11:67405679:T:A | F149I | 0.997 |
| 11:67405989:C:A | A185D | 0.997 |
| 11:67406633:T:C | F197L | 0.997 |
| 11:67406635:C:A | F197L | 0.997 |
| 11:67406635:C:G | F197L | 0.997 |
| 11:67406995:T:A | W273R | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000494452 (11:67405426 C>G), RS1000661218 (11:67410532 C>T), RS1000966734 (11:67407765 C>T), RS1001102815 (11:67407496 G>A,C), RS1001692033 (11:67403596 G>A,C), RS1001955345 (11:67405769 TAGCCC>T), RS1001984746 (11:67402021 G>T), RS1002136281 (11:67408147 G>C), RS1002247918 (11:67402240 C>G), RS1002455779 (11:67410088 G>A), RS1002565261 (11:67408710 C>T), RS1002614623 (11:67408442 A>C), RS1002962900 (11:67404913 T>A,C), RS1003113814 (11:67404560 G>A), RS1003704599 (11:67403352 A>T)
Disease associations
OMIM: gene MIM:610831 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007293_14 | Body fat distribution (arm fat ratio) | 9.000000e-08 |
| GCST007294_129 | Body fat distribution (trunk fat ratio) | 8.000000e-28 |
| GCST007294_95 | Body fat distribution (trunk fat ratio) | 1.000000e-35 |
| GCST007295_43 | Body fat distribution (leg fat ratio) | 1.000000e-25 |
| GCST007295_76 | Body fat distribution (leg fat ratio) | 1.000000e-21 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004341 | body fat distribution |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| GSK-J4 | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression, affects response to substance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression, affects cotreatment | 1 |
| Nickel | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Tretinoin | increases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 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.