TM4SF1
gene geneOn this page
Also known as L6
Summary
TM4SF1 (transmembrane 4 L six family member 1, HGNC:11853) is a protein-coding gene on chromosome 3q25.1, encoding Transmembrane 4 L6 family member 1 (P30408).
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface antigen and is highly expressed in different carcinomas.
Source: NCBI Gene 4071 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 30 total
- MANE Select transcript:
NM_014220
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11853 |
| Approved symbol | TM4SF1 |
| Name | transmembrane 4 L six family member 1 |
| Location | 3q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | L6 |
| Ensembl gene | ENSG00000169908 |
| Ensembl biotype | protein_coding |
| OMIM | 191155 |
| Entrez | 4071 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding, 2 nonsense_mediated_decay
ENST00000305366, ENST00000472441, ENST00000493298, ENST00000493348, ENST00000868324
RefSeq mRNA: 2 — MANE Select: NM_014220
NM_001410837, NM_014220
CCDS: CCDS3143, CCDS93404
Canonical transcript exons
ENST00000305366 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001135802 | 149375680 | 149375769 |
| ENSE00001244255 | 149375443 | 149375588 |
| ENSE00001244265 | 149369022 | 149369880 |
| ENSE00001931310 | 149377371 | 149377649 |
| ENSE00003617447 | 149371687 | 149371867 |
Expression profiles
Bgee: expression breadth ubiquitous, 300 present calls, max score 99.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 104.0298 / max 1968.2362, expressed in 1316 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 45023 | 101.4049 | 1308 |
| 45024 | 2.6249 | 856 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parietal pleura | UBERON:0002400 | 99.85 | gold quality |
| vena cava | UBERON:0004087 | 99.85 | gold quality |
| pleura | UBERON:0000977 | 99.68 | gold quality |
| cartilage tissue | UBERON:0002418 | 99.62 | gold quality |
| visceral pleura | UBERON:0002401 | 99.40 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 99.37 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 99.36 | gold quality |
| mammary duct | UBERON:0001765 | 99.34 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 99.26 | gold quality |
| pericardium | UBERON:0002407 | 99.25 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 99.23 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.17 | gold quality |
| peritoneum | UBERON:0002358 | 99.15 | gold quality |
| omental fat pad | UBERON:0010414 | 99.15 | gold quality |
| gall bladder | UBERON:0002110 | 99.14 | gold quality |
| lower lobe of lung | UBERON:0008949 | 99.14 | gold quality |
| calcaneal tendon | UBERON:0003701 | 99.09 | gold quality |
| mammary gland | UBERON:0001911 | 99.04 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 99.03 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 99.02 | gold quality |
| oral cavity | UBERON:0000167 | 99.01 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 99.00 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.93 | gold quality |
| hair follicle | UBERON:0002073 | 98.89 | gold quality |
| right coronary artery | UBERON:0001625 | 98.86 | gold quality |
| upper lobe of lung | UBERON:0008948 | 98.86 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.83 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.82 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.80 | gold quality |
| minor salivary gland | UBERON:0001830 | 98.76 | gold quality |
Single-cell (SCXA)
Detected in 46 experiment(s), a significant marker in 43.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 11158.19 |
| E-MTAB-10855 | yes | 10644.79 |
| E-MTAB-10137 | yes | 10439.47 |
| E-CURD-126 | yes | 7153.28 |
| E-MTAB-8322 | yes | 6579.13 |
| E-MTAB-9841 | yes | 5770.77 |
| E-GEOD-135922 | yes | 5053.05 |
| E-GEOD-130148 | yes | 4476.38 |
| E-MTAB-10885 | yes | 4427.59 |
| E-MTAB-8495 | yes | 4145.28 |
| E-HCAD-15 | yes | 4013.41 |
| E-MTAB-6308 | yes | 3643.70 |
| E-GEOD-134144 | yes | 3343.30 |
| E-MTAB-6678 | yes | 2646.77 |
| E-MTAB-9906 | yes | 2379.49 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HNF1A
Literature-anchored findings (GeneRIF, showing 40)
- TAL6 may play a role in cancer invasion and metastasis (PMID:12855661)
- These data suggest that L6-Ag influences cell motility via TERM by regulating the surface presentation and endocytosis of some of their components. (PMID:18270265)
- The gene ratio test with the TM4SF1 gene for survival of patients with malignant pleural mesothelioma has robust predictive value. (PMID:19401544)
- TM4SF1 can serve as a surface protein marker which singly identifies MSCs from diverse cell sources, in particular, fibroblast-rich connective tissues (PMID:20486778)
- We provide evidence that ARHGDIA, COBLL1, and TM4SF1 are negative regulators of apoptosis in cultured tumor cells. (PMID:21569526)
- TM4SF1, like genuine tetraspanins, serves as a molecular organizer that interacts with membrane and cytoskeleton-associated proteins and uniquely initiates the formation of nanopodia and facilitates cell polarization and migration. (PMID:21626280)
- Inhibition of cell migration after targeted knockdown of TM4SF1 protein expression suggests its contribution to prostate cancer cell metastasis. (PMID:21656834)
- High TM4SF1 expression is associated with pancreatic cancer. (PMID:24285464)
- TM4SF1 is a small plasma membrane glycoprotein that regulates cell motility and proliferation, and possibly a new vascular therapeutic target in cancer (PMID:24986520)
- Transmembrane-4-L-six-family-1 is overexpressed in human gliomas in general and the precise level of expression might predict outcome and could be of clinical value. (PMID:25855954)
- We found that miR-203 was significantly downregulated in OSF tissues compared to that in normal buccal mucosa tissues, and that miR-203 negatively regulated secreted SFRP4 and positively regulated TM4SF1 (PMID:25872484)
- Study shows that TM4SF1 expression is associated with better prognosis in pancreatic cancer. Its loss contributes to the invasion and migration of pancreatic cancer cells. (PMID:26035794)
- These findings validate TM4SF1 as an attractive candidate for cancer therapy with antibody-bound toxins that have the capacity to react with either cytoplasmic or nuclear targets in tumor cells or tumor-associated vascular endothelium. (PMID:26241677)
- TM4SF1 overexpression significantly contributed MDA-MB-231 cell migration but decreased apoptotic cells (PMID:26464650)
- The findings suggest that TM4SF1 is a surface membrane antigen that is highly expressed in pancreatic cancer cells and increases the chemoresistance to gemcitabine. TM4SF1 may be a promising target to overcome the chemoresistance of pancreatic cancer. (PMID:26709920)
- Results show that TM4SF1 expression is elevated in colorectal cancer (CRC), and associated with tumor stage and lymph node metastasis. Also, miR-9 directly targeted its binding site in the TM4SF1 3’-UTR, which has a critical role in regulating CRC cell migration. and invasion. Furthermore, miR-9 regulated cell motility via suppressing (PMID:26983891)
- Results indicate that the expression of transmembrane 4 L6 family member 1 (TM4SF1) is higher in pancreatic cancer tissues and pancreatic cancer cell lines than controls. (PMID:27459514)
- High TM4SF1 expression is associated with esophageal cancer. (PMID:27974706)
- Replacement of the transmembrane 4 L six family protein TM4SF1 or TM4SF4 C-terminus with that of TM4SF5 increased spheroids growth, transwell migration, and invasive dissemination from spheroids in 3D collagen gels. (PMID:28129652)
- our study provides a novel regulatory pathway involving TM4SF1, DDR1, MMP2 and MMP9, which promotes the formation and function of invadopodia to support cell migration and invasion in pancreatic cancer. (PMID:28368050)
- Results suggest that miR-30a is an important regulator of TM4SF1, VEGF, and E-cadherin for CRC lymph node metastasis, a potential new therapeutic target in CRC. (PMID:28528497)
- Regulation of transmembrane-4-L-six-family-1 (TM4SF1) on bladder cancer cell could be induced by peroxisome proliferator-activated receptor gamma (PPARgamma)-sirtuin 1 (SIRT1) feedback loop. (PMID:29175458)
- TM4SF1 was recognized as a direct target for miR-520f in hepatocellular carcinoma (HCC) cells where its expression was found up-regulated and inversely correlated with that of mir-520f. (PMID:29505836)
- These data suggested that low expression of TM4SF1 is associated with carcinogenesis and development, tumor progression and invasion of gastric cancer, and poor overall survival of patients with GC. TM4SF1 is a tumor suppressor for GC and a novel prognostic marker for patients with GC. (PMID:29665316)
- These results could be reversed by the overexpression of TM4SF1. At last, up-regulation of miR-206 suppressed expression of p-AKT and p-ERK by targetting TM4SF1 in PGE2-induced cells.Our results provide further evidence that miR-206 has a protective effect on PGE2-induced colon carcinogenesis. (PMID:30135139)
- our data provide the first evidence that TM4SF1 is a direct target of miR-30a/c and miR-30a/c inhibits the stemness and proliferation of NSCLC cells by targeting TM4SF1, suggesting that miR-30a/c and TM4SF1 may be useful as tumor biomarkers for the diagnosis and treatment of NSCLC patients. (PMID:30301667)
- Results find that TM4SF1 has selective expression features in epithelial ovarian tumors, can mediate tumor cell growth and invasion, as well as metastasis, and is closely associated with anti-tumor immune responses. (PMID:30876464)
- TM4SF1, a binding protein of DVL2 in hepatocellular carcinoma, positively regulates beta-catenin/TCF signalling. (PMID:31876386)
- High TM4SF1 expression is associated with metastasis in prostate cancer. (PMID:31983129)
- TM4SF1 facilitates non-small cell lung cancer progression through regulating YAP-TEAD pathway. (PMID:32141552)
- found miR-1-3p and miR-214-5p targeted TM4SF1, inhibited TM4SF1 expression, cell proliferation, migration, and induced apoptosis in human keloid fibroblasts (PMID:32376266)
- TM4SF1 promotes EMT and cancer stemness via the Wnt/beta-catenin/SOX2 pathway in colorectal cancer. (PMID:33153498)
- HIF-1alpha-activated TM4SF1-AS1 promotes the proliferation, migration, and invasion of hepatocellular carcinoma cells by enhancing TM4SF1 expression. (PMID:34118595)
- Hyper-expression and hypomethylation of TM4SF1 are associated with lymph node metastases in papillary thyroid carcinoma patients. (PMID:35081723)
- TM4SF1 promotes glioma malignancy through multiple mechanisms. (PMID:35532297)
- Long Noncoding RNA BCYRN1 Recruits BATF to Promote TM4SF1 Upregulation and Enhance HCC Cell Proliferation and Invasion. (PMID:35730016)
- TM4SF1 promotes esophageal squamous cell carcinoma metastasis by interacting with integrin alpha6. (PMID:35835740)
- Tm4sf1-marked Endothelial Subpopulation Is Dysregulated in Pulmonary Arterial Hypertension. (PMID:36252184)
- MicroRNA-501-3p targeting TM4SF1 facilitates tumor-related behaviors of gastric cancer cells via EMT signaling pathway. (PMID:36274500)
- TM4SF1 upregulates MYH9 to activate the NOTCH pathway to promote cancer stemness and lenvatinib resistance in HCC. (PMID:37069693)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tm4sf1 | ENSMUSG00000027800 |
| rattus_norvegicus | Tm4sf1 | ENSRNOG00000015812 |
Paralogs (5): TM4SF5 (ENSG00000142484), TM4SF19 (ENSG00000145107), TM4SF18 (ENSG00000163762), TM4SF20 (ENSG00000168955), TM4SF4 (ENSG00000169903)
Protein
Protein identifiers
Transmembrane 4 L6 family member 1 — P30408 (reviewed: P30408)
Alternative names: Membrane component chromosome 3 surface marker 1, Tumor-associated antigen L6
All UniProt accessions (4): P30408, C9J611, F8WBG6, F8WF27
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Present in high molecular weight complexes in tumor cells. Interacts with SDCBP2.
Subcellular location. Membrane.
Tissue specificity. Highly expressed in lung, breast, colon and ovarian carcinomas. It is also present on some normal cells, endothelial cells in particular.
Similarity. Belongs to the L6 tetraspanin family.
RefSeq proteins (2): NP_001397766, NP_055035* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008661 | L6_membrane | Family |
Pfam: PF05805
UniProt features (13 total): topological domain 5, transmembrane region 4, glycosylation site 2, chain 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P30408-F1 | 80.47 | 0.33 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2): 129, 159
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 202 | abolishes interaction with sdcbp2. loss of colocalization with sdcbp2 at the apical region of the cell. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 293 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_6HR_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, MODULE_52, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, JAEGER_METASTASIS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, KENNY_CTNNB1_TARGETS_UP, GENTILE_RESPONSE_CLUSTER_D3, GOBP_BLASTOCYST_FORMATION, GRAHAM_CML_QUIESCENT_VS_NORMAL_QUIESCENT_DN, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_UP, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_SUSTAINDED_IN_ERYTHROCYTE_UP, MODULE_118, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP
GO Biological Process (1): blastocyst formation (GO:0001825)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| blastocyst development | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
950 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TM4SF1 | DDR1 | Q08345 | 862 |
| TM4SF1 | TSPAN1 | O60635 | 793 |
| TM4SF1 | B4E171 | B4E171 | 761 |
| TM4SF1 | ITGA5 | P08648 | 715 |
| TM4SF1 | CD37 | P11049 | 666 |
| TM4SF1 | ITGB1 | P05556 | 656 |
| TM4SF1 | CD53 | P19397 | 654 |
| TM4SF1 | ITGB5 | P18084 | 652 |
| TM4SF1 | TSPAN31 | Q12999 | 632 |
| TM4SF1 | CD9 | P21926 | 627 |
| TM4SF1 | MYO10 | Q9HD67 | 626 |
| TM4SF1 | ANPEP | P15144 | 624 |
| TM4SF1 | CD63 | P08962 | 593 |
| TM4SF1 | TSPAN6 | O43657 | 584 |
| TM4SF1 | CDHR1 | Q96JP9 | 548 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SDCBP2 | TM4SF1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| TM4SF1 | SDCBP2 | psi-mi:“MI:0915”(physical association) | 0.540 |
| SDCBP2 | TM4SF1 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| TM4SF1 | E6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NBAS | psi-mi:“MI:0914”(association) | 0.350 | |
| malS | TM4SF1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TM4SF1 | DDR1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| HSPA8 | TM4SF1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TM4SF1 | TUBA4A | psi-mi:“MI:0915”(physical association) | 0.000 |
| TM4SF1 | DNAJA1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (12): TM4SF1 (Affinity Capture-RNA), TM4SF1 (Synthetic Lethality), TM4SF1 (PCA), DNAJA1 (Two-hybrid), TM4SF1 (Two-hybrid), Tuba1a (Two-hybrid), DDR1 (Two-hybrid), TM4SF1 (Affinity Capture-MS), TM4SF1 (Two-hybrid), TM4SF1 (Affinity Capture-MS), TM4SF1 (Proximity Label-MS), TM4SF1 (Affinity Capture-RNA)
ESM2 similar proteins: A2VE58, A3KQ86, A6H7B0, A6NC51, A6NDP7, A6NFC5, B1AQL3, B2RZ87, E9Q9H8, O14894, O43761, P0C5X8, P30408, P47987, Q08AU7, Q08DL4, Q13021, Q1HG44, Q2KIG8, Q2KJ98, Q3UUA0, Q49LS7, Q4VV71, Q58CW5, Q5RE43, Q5RFC1, Q5XGR0, Q63175, Q63ZU3, Q64302, Q6DFR5, Q7TQJ1, Q7Z7N9, Q8BHJ6, Q8K177, Q8R191, Q91X49, Q923Z0, Q96DZ7, Q9BSK0
Diamond homologs: E9Q9H8, O14894, P30408, P48230, P49111, Q2KIG8, Q5R6Z4, Q5RE43, Q64302, Q91XD3, Q96DZ7, Q9EQL5, Q3T110, Q53R12, Q96CE8, Q9CQY8, Q3T0Z4
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DDR1 | “up-regulates activity” | TM4SF1 | binding |
| TM4SF1 | “up-regulates activity” | SDCBP2 | relocalization |
| TM4SF1 | “up-regulates activity” | DVL2 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
613 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:149371866:ACC:A | acceptor_loss | 1.0000 |
| 3:149371867:CCTGT:C | acceptor_loss | 1.0000 |
| 3:149371868:C:A | acceptor_loss | 1.0000 |
| 3:149371869:T:G | acceptor_loss | 1.0000 |
| 3:149375437:A:AC | donor_gain | 1.0000 |
| 3:149375438:C:CC | donor_gain | 1.0000 |
| 3:149375438:CATA:C | donor_gain | 1.0000 |
| 3:149375441:A:AC | donor_gain | 1.0000 |
| 3:149375442:C:CT | donor_gain | 1.0000 |
| 3:149375442:CTGG:C | donor_gain | 1.0000 |
| 3:149375678:A:AC | donor_gain | 1.0000 |
| 3:149375679:C:CC | donor_gain | 1.0000 |
| 3:149369876:TATTG:T | acceptor_gain | 0.9900 |
| 3:149369878:TTG:T | acceptor_gain | 0.9900 |
| 3:149369881:C:CC | acceptor_gain | 0.9900 |
| 3:149371681:TCTTA:T | donor_loss | 0.9900 |
| 3:149371682:CTTAC:C | donor_loss | 0.9900 |
| 3:149371683:TTA:T | donor_loss | 0.9900 |
| 3:149371684:TA:T | donor_loss | 0.9900 |
| 3:149371685:A:AG | donor_loss | 0.9900 |
| 3:149371686:CCT:C | donor_loss | 0.9900 |
| 3:149371863:GGTAC:G | acceptor_gain | 0.9900 |
| 3:149371865:TAC:T | acceptor_gain | 0.9900 |
| 3:149371868:C:CC | acceptor_gain | 0.9900 |
| 3:149374472:A:AC | donor_gain | 0.9900 |
| 3:149374473:G:C | donor_gain | 0.9900 |
| 3:149374481:T:TA | donor_gain | 0.9900 |
| 3:149375441:ACTGG:A | donor_gain | 0.9900 |
| 3:149375442:CTGGC:C | donor_gain | 0.9900 |
| 3:149375445:G:A | donor_gain | 0.9900 |
AlphaMissense
1306 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:149371809:A:G | W158R | 0.993 |
| 3:149371809:A:T | W158R | 0.993 |
| 3:149371835:C:G | C149S | 0.993 |
| 3:149371836:A:T | C149S | 0.993 |
| 3:149371807:C:A | W158C | 0.990 |
| 3:149371807:C:G | W158C | 0.990 |
| 3:149377473:A:C | N25K | 0.990 |
| 3:149377473:A:T | N25K | 0.990 |
| 3:149371843:C:A | W146C | 0.988 |
| 3:149371843:C:G | W146C | 0.988 |
| 3:149371834:G:C | C149W | 0.987 |
| 3:149375494:C:G | C121S | 0.987 |
| 3:149375495:A:T | C121S | 0.987 |
| 3:149371836:A:G | C149R | 0.986 |
| 3:149375493:A:C | C121W | 0.986 |
| 3:149375504:C:G | G118R | 0.986 |
| 3:149375504:C:T | G118R | 0.986 |
| 3:149375472:C:A | W128C | 0.985 |
| 3:149375472:C:G | W128C | 0.985 |
| 3:149375495:A:G | C121R | 0.984 |
| 3:149377416:G:C | S44R | 0.984 |
| 3:149377416:G:T | S44R | 0.984 |
| 3:149377418:T:G | S44R | 0.984 |
| 3:149375557:C:T | G100E | 0.983 |
| 3:149371752:A:G | C177R | 0.982 |
| 3:149375461:A:C | F132C | 0.981 |
| 3:149375558:C:G | G100R | 0.981 |
| 3:149375558:C:T | G100R | 0.981 |
| 3:149375503:C:T | G118E | 0.980 |
| 3:149375548:C:T | G103E | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000322759 (3:149379041 C>A,T), RS1000382146 (3:149372587 G>A), RS1000544177 (3:149375779 A>G), RS1000816347 (3:149372945 C>G), RS1001131541 (3:149369539 T>C), RS1001427536 (3:149379062 G>A), RS1001500663 (3:149369246 T>C), RS1001607139 (3:149379216 G>A), RS1002226961 (3:149378757 A>AT), RS1002626453 (3:149373724 T>G), RS1002845732 (3:149370475 G>A), RS1002880042 (3:149370913 C>A,T), RS1004243792 (3:149375197 C>A,G), RS1004378569 (3:149373656 A>C), RS1004598902 (3:149369967 C>T)
Disease associations
OMIM: gene MIM:191155 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90011898_152 | Alanine aminotransferase levels | 7.000000e-23 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
90 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases expression, increases methylation | 6 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 5 |
| Tetrachlorodibenzodioxin | increases expression, affects expression, decreases expression | 5 |
| Cadmium | decreases expression, increases expression, decreases reaction | 4 |
| Estradiol | decreases expression, decreases reaction, affects cotreatment | 4 |
| Valproic Acid | affects expression, decreases expression, increases expression | 4 |
| bisphenol A | increases expression, affects expression, decreases expression | 3 |
| Calcitriol | decreases expression, increases expression, affects cotreatment | 3 |
| Cyclosporine | decreases expression | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 3 |
| (+)-JQ1 compound | decreases expression | 2 |
| Arsenic Trioxide | decreases expression, increases expression | 2 |
| Fulvestrant | increases expression, increases methylation, decreases expression, decreases reaction | 2 |
| Acetaminophen | decreases expression | 2 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 2 |
| Folic Acid | affects expression, decreases expression | 2 |
| Isoflavones | affects expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Quercetin | affects cotreatment, increases expression | 2 |
| Silicon Dioxide | increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Aflatoxin B1 | affects expression, increases expression | 2 |
| Asbestos, Crocidolite | decreases expression, increases expression | 2 |
| Cadmium Chloride | increases expression, affects cotreatment, decreases expression | 2 |
| tert-Butylhydroperoxide | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| N-(1,3-dimethylbutyl)-N’-phenyl-p-phenylenediamine quinone | affects expression | 1 |
| urushiol | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2IP | Abcam HeLa TM4SF1 KO | Cancer cell line | Female |
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.