Gene Gene information from NCBI Gene database.
Entrez ID 4071
Gene name Transmembrane 4 L six family member 1
Gene symbol TM4SF1
Synonyms (NCBI Gene)
H-L6L6M3S1TAAL6
Chromosome 3
Chromosome location 3q25.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
179
miRTarBase ID miRNA Experiments Reference
MIRT022021 hsa-miR-128-3p Microarray 17612493
MIRT698455 hsa-miR-548e-5p HITS-CLIP 23313552
MIRT698454 hsa-miR-708-3p HITS-CLIP 23313552
MIRT698453 hsa-miR-32-3p HITS-CLIP 23313552
MIRT698452 hsa-miR-338-5p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HNF1A Repression 18697801
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0001825 Process Blastocyst formation IEA
GO:0005515 Function Protein binding IPI 11102519
GO:0005886 Component Plasma membrane IDA 7510285
GO:0016020 Component Membrane IBA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191155 11853 ENSG00000169908
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30408
Protein name Transmembrane 4 L6 family member 1 (Membrane component chromosome 3 surface marker 1) (Tumor-associated antigen L6)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05805 L6_membrane 1 194 L6 membrane protein Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in lung, breast, colon and ovarian carcinomas. It is also present on some normal cells, endothelial cells in particular.
Sequence
Sequence length 202
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26709920
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 30344751
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 21656834
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 29175458
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22421941, 29384939, 31413629
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20847343, 26464650, 29384939 Associate
★☆☆☆☆
Found in Text Mining only
Bronchopulmonary Dysplasia Bronchopulmonary dysplasia Pubtator 35790551 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 37443145 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 29665316
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37069693, 39251909 Associate
★☆☆☆☆
Found in Text Mining only