TMEM100
gene geneOn this page
Also known as FLJ10970FLJ37856
Summary
TMEM100 (transmembrane protein 100, HGNC:25607) is a protein-coding gene on chromosome 17q22, encoding Transmembrane protein 100 (Q9NV29). Plays a role during embryonic arterial endothelium differentiation and vascular morphogenesis through the ACVRL1 receptor-dependent signaling pathway upon stimulation by bone morphogenetic proteins, such as GDF2/BMP9 and BMP10.
Involved in BMP signaling pathway. Located in several cellular components, including endoplasmic reticulum; perikaryon; and perinuclear region of cytoplasm.
Source: NCBI Gene 55273 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 23 total
- MANE Select transcript:
NM_018286
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25607 |
| Approved symbol | TMEM100 |
| Name | transmembrane protein 100 |
| Location | 17q22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10970, FLJ37856 |
| Ensembl gene | ENSG00000166292 |
| Ensembl biotype | protein_coding |
| OMIM | 616334 |
| Entrez | 55273 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 29 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000424486, ENST00000570586, ENST00000571679, ENST00000575685, ENST00000575734, ENST00000575806, ENST00000893789, ENST00000893790, ENST00000893791, ENST00000893792, ENST00000893793, ENST00000893794, ENST00000893795, ENST00000893796, ENST00000893797, ENST00000893798, ENST00000893799, ENST00000893800, ENST00000893801, ENST00000893802, ENST00000893803, ENST00000893804, ENST00000893805, ENST00000893806, ENST00000893807, ENST00000893808, ENST00000893809, ENST00000893810, ENST00000893811, ENST00000893812, ENST00000948271, ENST00000948272
RefSeq mRNA: 2 — MANE Select: NM_018286
NM_001099640, NM_018286
CCDS: CCDS11587
Canonical transcript exons
ENST00000424486 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002651774 | 55722619 | 55722864 |
| ENSE00002683681 | 55719627 | 55721135 |
Expression profiles
Bgee: expression breadth ubiquitous, 242 present calls, max score 99.63.
FANTOM5 (CAGE): breadth broad, TPM avg 1.8414 / max 244.6875, expressed in 411 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 167085 | 1.5916 | 382 |
| 167092 | 0.1386 | 63 |
| 167090 | 0.0400 | 21 |
| 167089 | 0.0377 | 18 |
| 167088 | 0.0144 | 5 |
| 167091 | 0.0084 | 3 |
| 167093 | 0.0056 | 2 |
| 167084 | 0.0050 | 1 |
Top tissues by expression
276 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lung | UBERON:0002167 | 99.63 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.04 | gold quality |
| upper lobe of lung | UBERON:0008948 | 97.92 | gold quality |
| adult organism | UBERON:0007023 | 97.83 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.46 | gold quality |
| lower lobe of lung | UBERON:0008949 | 96.36 | gold quality |
| lung | UBERON:0002048 | 95.84 | gold quality |
| synovial joint | UBERON:0002217 | 95.07 | gold quality |
| seminal vesicle | UBERON:0000998 | 94.45 | gold quality |
| corpus epididymis | UBERON:0004359 | 94.28 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 91.98 | gold quality |
| omental fat pad | UBERON:0010414 | 91.85 | gold quality |
| peritoneum | UBERON:0002358 | 91.77 | gold quality |
| caput epididymis | UBERON:0004358 | 91.66 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.40 | gold quality |
| adipose tissue | UBERON:0001013 | 90.55 | gold quality |
| visceral pleura | UBERON:0002401 | 90.53 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 89.97 | gold quality |
| left ovary | UBERON:0002119 | 89.85 | gold quality |
| connective tissue | UBERON:0002384 | 89.36 | gold quality |
| pericardium | UBERON:0002407 | 89.17 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 89.14 | gold quality |
| right atrium auricular region | UBERON:0006631 | 89.10 | gold quality |
| right ovary | UBERON:0002118 | 88.31 | gold quality |
| fundus of stomach | UBERON:0001160 | 87.96 | gold quality |
| cardiac atrium | UBERON:0002081 | 87.76 | gold quality |
| tibial nerve | UBERON:0001323 | 87.58 | gold quality |
| pleura | UBERON:0000977 | 87.55 | gold quality |
| endocervix | UBERON:0000458 | 87.15 | gold quality |
| ovary | UBERON:0000992 | 87.10 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6308 | yes | 4101.68 |
| E-MTAB-6653 | yes | 2491.06 |
| E-GEOD-114530 | yes | 1201.22 |
| E-GEOD-124472 | yes | 933.85 |
| E-HCAD-10 | yes | 644.93 |
| E-MTAB-8205 | yes | 362.15 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
83 targeting TMEM100, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
Literature-anchored findings (GeneRIF, showing 12)
- Loss of TMEM100 is associated with lung adenocarcinoma. (PMID:22223368)
- This study demonistrated that TMEM100 is a novel, membrane-associated marker for enteric nerves and is as effective as PGP9.5 for identifying neuronal structures in the gastrointestinal tract. (PMID:23485812)
- The current findings suggest that TMEM100 functions as a tumor suppressor in hepatocellular carcinoma metastasis and proliferation. (PMID:25978032)
- experiments using another type of ER stress inducer demonstrated that calcium signaling was more important than ER stress in the regulation of TMEM100 expression (PMID:29690857)
- TMEM100 is critical for inflammatory cytokines secretion and is regulated by MAPK (ERK/JNK) signaling pathway in hepatic stellate cells. (PMID:30639579)
- TMEM100 expression suppresses metastasis and enhances sensitivity to chemotherapy in gastric cancer. (PMID:31188741)
- TMEM100 induces cell death in nonsmall cell lung cancer via the activation of autophagy and apoptosis. (PMID:34184748)
- TMEM100 negatively regulated by microRNA106b facilitates cellular apoptosis by suppressing survivin expression in NSCLC. (PMID:34278505)
- Functional expression of TRPA1 channel, TRPV1 channel and TMEM100 in human odontoblasts. (PMID:34514518)
- Histone deacetylase 6-mediated downregulation of TMEM100 expedites the development and progression of non-small cell lung cancer. (PMID:34687431)
- Upregulation of DRG protein TMEM100 facilitates dry-skin-induced pruritus by enhancing TRPA1 channel function. (PMID:36514220)
- Role of TMEM100 in mechanically insensitive nociceptor un-silencing. (PMID:37019973)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tmem100 | ENSMUSG00000069763 |
| rattus_norvegicus | Tmem100 | ENSRNOG00000002434 |
Paralogs (1): PIRT (ENSG00000233670)
Protein
Protein identifiers
Transmembrane protein 100 — Q9NV29 (reviewed: Q9NV29)
All UniProt accessions (2): A0A0A0MTR3, Q9NV29
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role during embryonic arterial endothelium differentiation and vascular morphogenesis through the ACVRL1 receptor-dependent signaling pathway upon stimulation by bone morphogenetic proteins, such as GDF2/BMP9 and BMP10. Involved in the regulation of nociception, acting as a modulator of the interaction between TRPA1 and TRPV1, two molecular sensors and mediators of pain signals in dorsal root ganglia (DRG) neurons. Mechanistically, it weakens their interaction, thereby releasing the inhibition of TRPA1 by TRPV1 and increasing the single-channel open probability of the TRPA1-TRPV1 complex.
Subunit / interactions. Interacts (via C-terminus) with TRPA1 and TRPV1. Interacts with TASOR.
Subcellular location. Cell membrane. Membrane. Perikaryon. Cytoplasm. Perinuclear region. Endoplasmic reticulum.
Tissue specificity. Expressed in neurons of the myenteric and submucosal plexuses in the gastric body, jejunum and proximal colon. Expressed in arterial endothelial cells and neurons of the central nervous system and peripheral nervous system. Expressed in umbilical artery endothelial cells (at protein level).
Induction. Up-regulated by GDF2/BMP9 and BMP10 (at protein level).
RefSeq proteins (2): NP_001093110, NP_060756* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR032536 | TMEM100 | Family |
Pfam: PF16311
UniProt features (5 total): transmembrane region 2, chain 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NV29-F1 | 66.39 | 0.12 |
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 (1): 121
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 218 (showing top):
GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_VASCULOGENESIS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, GOBP_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION, GOBP_ENDOCARDIAL_CUSHION_DEVELOPMENT, GOBP_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION, AP4_Q6, GOBP_ENDOCARDIAL_CUSHION_MORPHOGENESIS, CAGCTG_AP4_Q5, GOBP_ENDOCARDIAL_CUSHION_FORMATION, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_SENSORY_PERCEPTION_OF_PAIN
GO Biological Process (15): angiogenesis (GO:0001525), vasculogenesis (GO:0001570), in utero embryonic development (GO:0001701), epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198), Notch signaling pathway (GO:0007219), BMP signaling pathway (GO:0030509), positive regulation of endothelial cell differentiation (GO:0045603), regulation of calcium-mediated signaling (GO:0050848), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), regulation of sensory perception of pain (GO:0051930), arterial endothelial cell differentiation (GO:0060842), cellular response to BMP stimulus (GO:0071773), positive regulation of vasculogenesis (GO:2001214), endocardial cushion development (GO:0003197), cell differentiation (GO:0030154)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), perikaryon (GO:0043204), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| blood vessel morphogenesis | 2 |
| cytoplasm | 2 |
| anatomical structure formation involved in morphogenesis | 1 |
| cell differentiation | 1 |
| chordate embryonic development | 1 |
| endocardial cushion formation | 1 |
| cardiac epithelial to mesenchymal transition | 1 |
| cell surface receptor signaling pathway | 1 |
| cellular response to BMP stimulus | 1 |
| transforming growth factor beta receptor superfamily signaling pathway | 1 |
| positive regulation of epithelial cell differentiation | 1 |
| endothelial cell differentiation | 1 |
| regulation of endothelial cell differentiation | 1 |
| calcium-mediated signaling | 1 |
| regulation of intracellular signal transduction | 1 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| sensory perception of pain | 1 |
| regulation of sensory perception | 1 |
| blood vessel endothelial cell differentiation | 1 |
| cellular response to growth factor stimulus | 1 |
| response to BMP | 1 |
| vasculogenesis | 1 |
| positive regulation of cell differentiation | 1 |
| regulation of vasculogenesis | 1 |
| heart development | 1 |
| mesenchyme development | 1 |
| cellular developmental process | 1 |
| binding | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| neuronal cell body | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
732 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM100 | FCN3 | O75636 | 496 |
| TMEM100 | TRPA1 | O75762 | 484 |
| TMEM100 | SNX15 | Q9NRS6 | 438 |
| TMEM100 | ACVRL1 | P37023 | 432 |
| TMEM100 | GDF2 | Q9UK05 | 430 |
| TMEM100 | LHX1 | P48742 | 417 |
| TMEM100 | AKAP5 | P24588 | 415 |
| TMEM100 | PCTP | Q9UKL6 | 410 |
| TMEM100 | ANKS6 | Q68DC2 | 402 |
| TMEM100 | TRPV1 | Q8NER1 | 402 |
| TMEM100 | SIX2 | Q9NPC8 | 391 |
| TMEM100 | TMEM63C | Q9P1W3 | 378 |
| TMEM100 | BMP10 | O95393 | 370 |
| TMEM100 | ANKFN1 | Q8N957 | 370 |
| TMEM100 | CITED1 | Q99966 | 368 |
IntAct
101 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMEM100 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC57 | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM79 | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM100 | CCDC57 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEOX2 | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM100 | GJA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM100 | HSD17B13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM100 | STING1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM100 | LHFPL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX1A | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUP93 | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF19B | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC30A4 | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| REEP1 | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FNDC9 | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLDN7 | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35A5 | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR152 | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EBP | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM209A | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IFNGR1 | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (35): TMEM100 (Two-hybrid), TMEM79 (Two-hybrid), CCDC57 (Two-hybrid), TMEM100 (Two-hybrid), TMEM100 (Two-hybrid), TMEM100 (Two-hybrid), TMEM100 (Two-hybrid), TMEM100 (Two-hybrid), TMEM100 (Two-hybrid), TMEM100 (Two-hybrid), TMEM100 (Two-hybrid), TMEM100 (Two-hybrid), TMEM100 (Two-hybrid), TMEM100 (Two-hybrid), TMEM100 (Two-hybrid)
ESM2 similar proteins: A0A1B0GQX3, A0A1B0GRQ0, A0A1B0GV90, A0A1B0GVT2, A0A590UK83, A4QNL6, A5D7B5, A7RYM7, B0YA61, B3DHH5, C0HJJ0, D3YUK8, G1TZA0, H3BR10, O13001, O22752, O43073, O75324, P0C2S0, P0DKX4, P47111, P57054, P58550, P59648, P59649, P61807, P61808, Q12016, Q17Q87, Q3E8L0, Q3E912, Q3T0S0, Q3URE8, Q4V921, Q4WCL2, Q5RBD8, Q5XV67, Q80ZU4, Q8BT42, Q8LBX7
Diamond homologs: Q2KIC8, Q569C0, Q9CQG9, Q9NV29
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
23 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 19 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
458 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:55722612:CA:C | donor_gain | 1.0000 |
| 17:55722612:CACT:C | donor_gain | 1.0000 |
| 17:55721136:C:CC | acceptor_gain | 0.9900 |
| 17:55721734:A:AC | donor_gain | 0.9900 |
| 17:55721735:C:CC | donor_gain | 0.9900 |
| 17:55722615:TCACC:T | donor_loss | 0.9900 |
| 17:55722616:C:CG | donor_loss | 0.9900 |
| 17:55721133:AAGC:A | acceptor_loss | 0.9800 |
| 17:55721134:AGC:A | acceptor_loss | 0.9800 |
| 17:55721136:C:A | acceptor_loss | 0.9800 |
| 17:55721731:CCCA:C | donor_gain | 0.9800 |
| 17:55721131:GAAAG:G | acceptor_gain | 0.9700 |
| 17:55722611:ACACT:A | donor_gain | 0.9700 |
| 17:55722612:CACTC:C | donor_gain | 0.9700 |
| 17:55722618:CCT:C | donor_gain | 0.9700 |
| 17:55721133:AAG:A | acceptor_gain | 0.9600 |
| 17:55721134:AG:A | acceptor_gain | 0.9600 |
| 17:55722637:A:AC | donor_gain | 0.9600 |
| 17:55722655:TG:T | donor_gain | 0.9600 |
| 17:55722793:A:AC | donor_gain | 0.9600 |
| 17:55722794:C:CC | donor_gain | 0.9600 |
| 17:55722611:A:AC | donor_gain | 0.9500 |
| 17:55722612:C:CC | donor_gain | 0.9500 |
| 17:55721816:CTG:C | acceptor_gain | 0.9400 |
| 17:55722617:A:AC | donor_gain | 0.9400 |
| 17:55722618:C:CC | donor_gain | 0.9400 |
| 17:55721132:AAAG:A | acceptor_gain | 0.9300 |
| 17:55722635:CCA:C | donor_gain | 0.9300 |
| 17:55722636:CA:C | donor_gain | 0.9300 |
| 17:55722643:A:T | donor_gain | 0.9300 |
AlphaMissense
868 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:55720869:C:G | G68R | 0.990 |
| 17:55720762:A:C | S103R | 0.988 |
| 17:55720762:A:T | S103R | 0.988 |
| 17:55720764:T:G | S103R | 0.988 |
| 17:55720805:C:T | G89D | 0.987 |
| 17:55720868:C:T | G68D | 0.986 |
| 17:55720806:C:G | G89R | 0.983 |
| 17:55720905:A:G | C56R | 0.980 |
| 17:55720785:C:G | G96R | 0.978 |
| 17:55720785:C:T | G96R | 0.978 |
| 17:55720784:C:T | G96E | 0.971 |
| 17:55720895:G:C | P59R | 0.971 |
| 17:55720914:A:G | C53R | 0.970 |
| 17:55720847:G:T | A75D | 0.969 |
| 17:55720895:G:T | P59H | 0.960 |
| 17:55720946:A:G | L42S | 0.956 |
| 17:55720931:C:A | G47V | 0.955 |
| 17:55720932:C:A | G47W | 0.955 |
| 17:55720859:A:T | V71D | 0.953 |
| 17:55720891:A:C | F60L | 0.951 |
| 17:55720891:A:T | F60L | 0.951 |
| 17:55720893:A:G | F60L | 0.951 |
| 17:55720931:C:T | G47E | 0.951 |
| 17:55720904:C:G | C56S | 0.950 |
| 17:55720905:A:T | C56S | 0.950 |
| 17:55720883:A:T | V63D | 0.949 |
| 17:55720868:C:A | G68V | 0.947 |
| 17:55720869:C:A | G68C | 0.946 |
| 17:55720848:C:G | A75P | 0.944 |
| 17:55720903:G:C | C56W | 0.944 |
dbSNP variants (sampled 300 via entrez): RS1001051487 (17:55728160 G>T), RS1001216398 (17:55728552 A>T), RS1001393538 (17:55729726 T>A), RS1002301900 (17:55723071 A>G), RS1002352607 (17:55722694 C>G,T), RS1002898080 (17:55720342 T>C), RS1002913709 (17:55726790 T>C), RS1002929151 (17:55720760 G>A), RS1003076676 (17:55725618 C>T), RS1003265884 (17:55719165 C>T), RS1003306731 (17:55724564 A>C,G), RS1003457666 (17:55724004 C>T), RS1003519447 (17:55730128 G>A), RS1003533618 (17:55725391 A>G), RS1003809170 (17:55725431 A>G)
Disease associations
OMIM: gene MIM:616334 | 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 |
|---|---|---|
| GCST001290_3 | Height | 6.000000e-09 |
| GCST003628_7 | Clozapine-induced agranulocytosis/granulocytopenia in treatment-resistant schizophrenia | 5.000000e-06 |
| GCST007272_33 | Pulse pressure | 1.000000e-26 |
| GCST90020025_1458 | Waist-to-hip ratio adjusted for BMI | 3.000000e-09 |
| GCST90020027_433 | Waist-hip index | 1.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| Thapsigargin | decreases expression, increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | affects expression | 1 |
| boron nitride | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Vorinostat | increases expression | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Boron Compounds | decreases expression | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Testosterone | affects cotreatment, increases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Tretinoin | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Tunicamycin | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Tungsten Compounds | decreases expression | 1 |
| Okadaic 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.