TMCC1
gene geneOn this page
Also known as KIAA0779
Summary
TMCC1 (transmembrane and coiled-coil domain family 1, HGNC:29116) is a protein-coding gene on chromosome 3q22.1, encoding Transmembrane and coiled-coil domains protein 1 (O94876). Endoplasmic reticulum membrane protein that promotes endoplasmic reticulum-associated endosome fission.
Enables identical protein binding activity. Involved in several processes, including endosome fission; endosome membrane tubulation; and membrane fission. Located in cytosol; endoplasmic reticulum-endosome membrane contact site; and rough endoplasmic reticulum.
Source: NCBI Gene 23023 — RefSeq curated summary.
At a glance
- GWAS associations: 31
- Clinical variants (ClinVar): 52 total
- MANE Select transcript:
NM_001017395
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29116 |
| Approved symbol | TMCC1 |
| Name | transmembrane and coiled-coil domain family 1 |
| Location | 3q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0779 |
| Ensembl gene | ENSG00000172765 |
| Ensembl biotype | protein_coding |
| OMIM | 616242 |
| Entrez | 23023 |
Gene structure
Transcript identifiers
Ensembl transcripts: 46 — 38 protein_coding, 6 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000393238, ENST00000426664, ENST00000432054, ENST00000503256, ENST00000505616, ENST00000505924, ENST00000508729, ENST00000508869, ENST00000509440, ENST00000510323, ENST00000510521, ENST00000512902, ENST00000513411, ENST00000515024, ENST00000648771, ENST00000698214, ENST00000698215, ENST00000858270, ENST00000858271, ENST00000858272, ENST00000858273, ENST00000858274, ENST00000858275, ENST00000858276, ENST00000915954, ENST00000915955, ENST00000915956, ENST00000915957, ENST00000915958, ENST00000915959, ENST00000915960, ENST00000955168, ENST00000955169, ENST00000955170, ENST00000955171, ENST00000955172, ENST00000955173, ENST00000955174, ENST00000955175, ENST00000955176, ENST00000955177, ENST00000955178, ENST00000955179, ENST00000955180, ENST00000955181, ENST00000955182
RefSeq mRNA: 16 — MANE Select: NM_001017395
NM_001017395, NM_001128224, NM_001349263, NM_001349264, NM_001349265, NM_001349266, NM_001349268, NM_001349269, NM_001349270, NM_001349271, NM_001349272, NM_001349273, NM_001349274, NM_001349275, NM_001349276, NM_015008
CCDS: CCDS33855, CCDS93382, CCDS93383
Canonical transcript exons
ENST00000393238 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001194452 | 129654968 | 129655103 |
| ENSE00001322029 | 129647792 | 129651795 |
| ENSE00001404015 | 129832774 | 129832826 |
| ENSE00001428379 | 129880309 | 129880559 |
| ENSE00002216878 | 129827803 | 129828508 |
| ENSE00003617457 | 129670330 | 129671264 |
| ENSE00003920315 | 129893494 | 129893711 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 98.17.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.7358 / max 498.3795, expressed in 1756 samples.
FANTOM5 promoters (21 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 44569 | 8.0738 | 1719 |
| 44570 | 0.6079 | 293 |
| 44553 | 0.5500 | 159 |
| 44566 | 0.3172 | 113 |
| 44560 | 0.2792 | 126 |
| 44558 | 0.2199 | 92 |
| 44550 | 0.1915 | 38 |
| 44567 | 0.1828 | 73 |
| 44554 | 0.1767 | 98 |
| 44557 | 0.1759 | 76 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 98.17 | gold quality |
| oocyte | CL:0000023 | 97.49 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 95.56 | gold quality |
| colonic epithelium | UBERON:0000397 | 94.42 | gold quality |
| sperm | CL:0000019 | 94.22 | gold quality |
| biceps brachii | UBERON:0001507 | 93.98 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.90 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 93.58 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 93.25 | gold quality |
| cortical plate | UBERON:0005343 | 93.24 | gold quality |
| sural nerve | UBERON:0015488 | 93.21 | gold quality |
| male germ cell | CL:0000015 | 92.59 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 92.40 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 92.31 | gold quality |
| deltoid | UBERON:0001476 | 92.09 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 92.08 | gold quality |
| vastus lateralis | UBERON:0001379 | 91.77 | gold quality |
| corpus callosum | UBERON:0002336 | 91.63 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 91.55 | gold quality |
| quadriceps femoris | UBERON:0001377 | 91.37 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 91.36 | gold quality |
| pons | UBERON:0000988 | 91.27 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 90.86 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 90.78 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 90.67 | gold quality |
| muscle tissue | UBERON:0002385 | 90.52 | gold quality |
| muscle organ | UBERON:0001630 | 90.36 | gold quality |
| gall bladder | UBERON:0002110 | 90.25 | gold quality |
| entorhinal cortex | UBERON:0002728 | 90.18 | gold quality |
| gluteal muscle | UBERON:0002000 | 90.15 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.13 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 1)
- roles of TMCC1 in ER organization (PMID:24454821)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmcc1b | ENSDARG00000060954 |
| danio_rerio | TMCC1 | ENSDARG00000076747 |
| mus_musculus | Tmcc1 | ENSMUSG00000030126 |
| rattus_norvegicus | Tmcc1 | ENSRNOG00000011614 |
| drosophila_melanogaster | Dmtn | FBGN0037443 |
| caenorhabditis_elegans | WBGENE00015800 |
Paralogs (3): TMCC3 (ENSG00000057704), TMCC2 (ENSG00000133069), TEX28 (ENSG00000278057)
Protein
Protein identifiers
Transmembrane and coiled-coil domains protein 1 — O94876 (reviewed: O94876)
All UniProt accessions (6): O94876, A0A8V8TLJ9, D6RBT7, D6RH19, E9PC87, Q6N039
UniProt curated annotations — full annotation on UniProt →
Function. Endoplasmic reticulum membrane protein that promotes endoplasmic reticulum-associated endosome fission. Localizes to contact sites between the endoplasmic reticulum and endosomes and acts by promoting recruitment of the endoplasmic reticulum to endosome tubules for fission. Endosome membrane fission of early and late endosomes is essential to separate regions destined for lysosomal degradation from carriers to be recycled to the plasma membrane.
Subunit / interactions. May form homodimers and heterodimers with TMCC2 or TMCC3 via the coiled-coil domains. Interacts with ribosomal proteins RPL4 and RPS6.
Subcellular location. Endoplasmic reticulum membrane.
Similarity. Belongs to the TEX28 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O94876-1 | 1 | yes |
| O94876-2 | 2 |
RefSeq proteins (16): NP_001017395, NP_001121696, NP_001336192, NP_001336193, NP_001336194, NP_001336195, NP_001336197, NP_001336198, NP_001336199, NP_001336200, NP_001336201, NP_001336202, NP_001336203, NP_001336204, NP_001336205, NP_055823 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019394 | TEX28/TMCC | Family |
Pfam: PF10267
UniProt features (27 total): compositionally biased region 7, region of interest 5, modified residue 3, topological domain 2, coiled-coil region 2, transmembrane region 2, splice variant 2, sequence conflict 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O94876-F1 | 63.55 | 0.27 |
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 (3): 1, 382, 414
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 286 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, RNGTGGGC_UNKNOWN, AP1_01, GOBP_ENDOSOME_ORGANIZATION, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, FISCHER_G1_S_CELL_CYCLE, GOBP_VESICLE_ORGANIZATION, MORF_ATRX, IVANOVA_HEMATOPOIESIS_MATURE_CELL, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, BILD_SRC_ONCOGENIC_SIGNATURE, TTGGGAG_MIR150
GO Biological Process (5): endoplasmic reticulum organization (GO:0007029), endosomal transport (GO:0016197), membrane fission (GO:0090148), endosome membrane tubulation (GO:0097750), endosome fission (GO:0140285)
GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (7): endoplasmic reticulum membrane (GO:0005789), rough endoplasmic reticulum (GO:0005791), cytosol (GO:0005829), endomembrane system (GO:0012505), endoplasmic reticulum-endosome membrane contact site (GO:0140284), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| vesicle-mediated transport | 1 |
| intracellular transport | 1 |
| membrane organization | 1 |
| endosome organization | 1 |
| membrane tubulation | 1 |
| organelle fission | 1 |
| protein binding | 1 |
| binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| endoplasmic reticulum | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| organelle membrane contact site | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
484 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMCC1 | CFAP100 | Q494V2 | 879 |
| TMCC1 | PODXL2 | Q9NZ53 | 875 |
| TMCC1 | KLF15 | Q9UIH9 | 847 |
| TMCC1 | PLXND1 | Q9Y4D7 | 845 |
| TMCC1 | PLXNA1 | Q9UIW2 | 688 |
| TMCC1 | CORO1C | Q9ULV4 | 639 |
| TMCC1 | GATA2 | P23769 | 492 |
| TMCC1 | VSTM2B | A6NLU5 | 448 |
| TMCC1 | IST1 | P53990 | 414 |
| TMCC1 | TMCO1 | Q9UM00 | 377 |
| TMCC1 | ZFYVE27 | Q5T4F4 | 355 |
| TMCC1 | RSRP1 | Q9BUV0 | 327 |
| TMCC1 | SNX2 | P82862 | 323 |
| TMCC1 | EFCAB8 | A8MWE9 | 314 |
| TMCC1 | SPAST | Q9UBP0 | 313 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| TEX28 | TMCC2 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAB | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.610 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| SLC30A2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| ARHGEF4 | TMCC1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TMCC1 | CBX5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TMCC1 | rstB | psi-mi:“MI:0915”(physical association) | 0.370 |
| TMCC1 | ZDHHC17 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TEX28 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| HCN1 | USP27X | psi-mi:“MI:0914”(association) | 0.350 |
| HCN1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| MAPRE1 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.350 |
| CXCR4 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SAAL1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A4 | GPR39 | psi-mi:“MI:0914”(association) | 0.350 |
| TEX28 | PRAF2 | psi-mi:“MI:0914”(association) | 0.350 |
| TMCC1 | TMCC2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC19A2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A5 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A7 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A4 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SFN | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| YWHAB | E2F8 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (38): TMCC1 (Two-hybrid), TMCC1 (Reconstituted Complex), TMCC1 (Affinity Capture-MS), TMCC1 (Affinity Capture-RNA), TMCC1 (Affinity Capture-MS), TMCC1 (Affinity Capture-RNA), TMCC1 (Affinity Capture-RNA), TMCC1 (Proximity Label-MS), CBX5 (Proximity Label-MS), TMCC1 (Proximity Label-MS), TMCC1 (Proximity Label-MS), TMCC1 (Proximity Label-MS), TMCC1 (Proximity Label-MS), TMCC1 (Affinity Capture-MS), TMCC1 (Proximity Label-MS)
ESM2 similar proteins: A0JNJ3, A0M8T5, A4IG66, F1Q930, F7AEX0, O00750, O15327, O48832, O94876, P35612, P97578, Q00PJ1, Q05764, Q07E15, Q07E28, Q09YG9, Q0P4J3, Q155Q3, Q1JPG0, Q2QLA2, Q2T9N1, Q2TBG9, Q2VUH7, Q3ZC62, Q4R4D7, Q4V8E4, Q5BJ78, Q5BLE2, Q5JTW2, Q5R5V7, Q5RA60, Q5T1M5, Q69ZZ6, Q6GR21, Q6INU2, Q6IP02, Q6NTW1, Q8BG50, Q8C5W4, Q8C6E0
Diamond homologs: O75069, O94876, Q69ZZ6, Q80W04, Q8R310, Q9ULS5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 35 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 7 | 213.2× | 6e-14 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 188.1× | 9e-14 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 188.1× | 9e-14 |
| Activation of BH3-only proteins | 7 | 139.0× | 9e-13 |
| RHO GTPases activate PKNs | 7 | 88.8× | 3e-11 |
| Intrinsic Pathway for Apoptosis | 7 | 82.0× | 4e-11 |
| FOXO-mediated transcription | 5 | 67.2× | 8e-08 |
| SARS-CoV-1-host interactions | 7 | 49.2× | 1e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein targeting | 5 | 57.2× | 3e-06 |
| intracellular protein localization | 8 | 26.2× | 1e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2702 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:129651582:T:TA | donor_gain | 1.0000 |
| 3:129654122:ATTT:A | donor_gain | 1.0000 |
| 3:129654122:ATTTC:A | donor_gain | 1.0000 |
| 3:129654965:AAC:A | donor_loss | 1.0000 |
| 3:129654966:A:AC | donor_gain | 1.0000 |
| 3:129654966:A:AT | donor_loss | 1.0000 |
| 3:129654967:C:CC | donor_gain | 1.0000 |
| 3:129655099:CACAT:C | acceptor_gain | 1.0000 |
| 3:129655100:ACAT:A | acceptor_gain | 1.0000 |
| 3:129655101:CAT:C | acceptor_gain | 1.0000 |
| 3:129655101:CATC:C | acceptor_gain | 1.0000 |
| 3:129655102:AT:A | acceptor_gain | 1.0000 |
| 3:129655103:TCT:T | acceptor_loss | 1.0000 |
| 3:129655104:C:CA | acceptor_loss | 1.0000 |
| 3:129655104:C:CC | acceptor_gain | 1.0000 |
| 3:129655105:T:C | acceptor_loss | 1.0000 |
| 3:129671260:TCGAT:T | acceptor_gain | 1.0000 |
| 3:129671261:CGAT:C | acceptor_gain | 1.0000 |
| 3:129671261:CGATC:C | acceptor_gain | 1.0000 |
| 3:129671263:AT:A | acceptor_gain | 1.0000 |
| 3:129671264:TC:T | acceptor_loss | 1.0000 |
| 3:129671265:C:CC | acceptor_gain | 1.0000 |
| 3:129671265:CTAGT:C | acceptor_loss | 1.0000 |
| 3:129671268:G:C | acceptor_gain | 1.0000 |
| 3:129671268:G:GC | acceptor_gain | 1.0000 |
| 3:129671270:G:GC | acceptor_gain | 1.0000 |
| 3:129822569:T:A | donor_gain | 1.0000 |
| 3:129822586:ATTT:A | donor_gain | 1.0000 |
| 3:129651578:AACGT:A | donor_gain | 0.9900 |
| 3:129651793:CTC:C | acceptor_gain | 0.9900 |
AlphaMissense
4297 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:129651641:A:G | L601S | 1.000 |
| 3:129651662:A:G | L594P | 1.000 |
| 3:129651662:A:T | L594Q | 1.000 |
| 3:129651752:A:G | L564P | 1.000 |
| 3:129651770:C:G | R558P | 1.000 |
| 3:129651788:A:G | L552P | 1.000 |
| 3:129651792:C:G | A551P | 1.000 |
| 3:129654978:C:G | R546P | 1.000 |
| 3:129654984:C:G | R544P | 1.000 |
| 3:129654994:A:G | S541P | 1.000 |
| 3:129655000:A:C | Y539D | 1.000 |
| 3:129655000:A:G | Y539H | 1.000 |
| 3:129655026:A:G | L530P | 1.000 |
| 3:129655038:A:G | L526S | 1.000 |
| 3:129655056:T:G | Q520P | 1.000 |
| 3:129655060:G:C | H519D | 1.000 |
| 3:129655062:A:G | L518P | 1.000 |
| 3:129655071:A:G | L515P | 1.000 |
| 3:129655080:A:G | L512P | 1.000 |
| 3:129655083:T:G | Q511P | 1.000 |
| 3:129670998:A:C | F281L | 1.000 |
| 3:129670998:A:T | F281L | 1.000 |
| 3:129671000:A:G | F281L | 1.000 |
| 3:129671053:A:G | L263S | 1.000 |
| 3:129671057:A:G | Y262H | 1.000 |
| 3:129651630:A:G | S605P | 0.999 |
| 3:129651632:A:T | V604D | 0.999 |
| 3:129651641:A:C | L601W | 0.999 |
| 3:129651647:A:T | V599D | 0.999 |
| 3:129651651:C:G | A598P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000003865 (3:129754511 C>T), RS1000010079 (3:129708526 A>G), RS1000018136 (3:129795093 A>T), RS1000022178 (3:129707271 C>A,T), RS1000034064 (3:129692188 T>A,C), RS1000049429 (3:129744837 T>C), RS1000051139 (3:129806497 T>C), RS1000070869 (3:129705604 A>C,T), RS1000071541 (3:129707029 T>C,G), RS1000073087 (3:129877244 T>C), RS1000095699 (3:129700265 C>A,T), RS1000101892 (3:129845422 A>G), RS1000102338 (3:129888269 C>A,T), RS1000110711 (3:129761440 G>A), RS1000113029 (3:129701748 C>T)
Disease associations
OMIM: gene MIM:616242 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
31 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001585_20 | Breast size | 5.000000e-07 |
| GCST005956_82 | Waist-to-hip ratio adjusted for BMI | 2.000000e-07 |
| GCST005958_5 | Waist-to-hip ratio adjusted for BMI (age >50) | 4.000000e-10 |
| GCST005962_16 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 2.000000e-11 |
| GCST008163_451 | Height | 4.000000e-07 |
| GCST009379_134 | Type 2 diabetes | 4.000000e-08 |
| GCST009379_135 | Type 2 diabetes | 7.000000e-06 |
| GCST012227_1259 | Hip circumference adjusted for BMI | 4.000000e-12 |
| GCST012229_48 | Hip index | 2.000000e-08 |
| GCST90020024_1265 | A body shape index | 2.000000e-14 |
| GCST90020024_1267 | A body shape index | 8.000000e-10 |
| GCST90020025_461 | Waist-to-hip ratio adjusted for BMI | 5.000000e-15 |
| GCST90020025_463 | Waist-to-hip ratio adjusted for BMI | 9.000000e-09 |
| GCST90020025_465 | Waist-to-hip ratio adjusted for BMI | 2.000000e-22 |
| GCST90020025_466 | Waist-to-hip ratio adjusted for BMI | 9.000000e-24 |
| GCST90020026_113 | Hip index | 3.000000e-09 |
| GCST90020026_114 | Hip index | 3.000000e-28 |
| GCST90020026_115 | Hip index | 1.000000e-20 |
| GCST90020026_116 | Hip index | 1.000000e-15 |
| GCST90020026_117 | Hip index | 3.000000e-08 |
| GCST90020027_302 | Waist-hip index | 9.000000e-09 |
| GCST90020027_304 | Waist-hip index | 5.000000e-22 |
| GCST90020027_305 | Waist-hip index | 5.000000e-23 |
| GCST90020027_311 | Waist-hip index | 2.000000e-14 |
| GCST90020028_1709 | Hip circumference adjusted for BMI | 6.000000e-29 |
| GCST90020028_1710 | Hip circumference adjusted for BMI | 2.000000e-19 |
| GCST90020028_1711 | Hip circumference adjusted for BMI | 8.000000e-12 |
| GCST90020028_1856 | Hip circumference adjusted for BMI | 2.000000e-11 |
| GCST90020028_1857 | Hip circumference adjusted for BMI | 1.000000e-08 |
| GCST90020028_1858 | Hip circumference adjusted for BMI | 1.000000e-31 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2811332 | TMCC1 | 0.00 | 0 |
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, decreases methylation | 7 |
| Tetrachlorodibenzodioxin | affects expression, increases expression | 4 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases expression, increases methylation | 3 |
| Cyclosporine | decreases expression, increases expression | 3 |
| bisphenol A | affects expression, affects cotreatment, decreases methylation | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| Formaldehyde | decreases expression | 2 |
| Aflatoxin B1 | decreases expression, decreases methylation | 2 |
| Cadmium Chloride | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| 9,10-dihydro-9,10-dihydroxybenzo(a)pyrene | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| resorcinol | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
| Zoledronic Acid | 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.