TSPAN16 (tetraspanin 16)

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Gene Gene information from NCBI Gene database.
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Entrez ID 26526
Gene name Tetraspanin 16
Gene symbol TSPAN16
Synonyms (NCBI Gene)
TM-8TM4-BTM4SF16
Chromosome 19
Chromosome location 19p13.2
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 33961781
GO:0005886 Component Plasma membrane IBA
GO:0016020 Component Membrane IEA
GO:0016020 Component Membrane TAS 10500248
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
617580 30725 ENSG00000130167
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKR8
Protein name Tetraspanin-16 (Tspan-16) (Tetraspanin TM4-B) (Transmembrane 4 superfamily member 16)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00335 Tetraspanin 11 → 235 Tetraspanin family Family
Tissue specificity TISSUE SPECIFICITY: Broadly expressed in most human tissues and cell lines including neural and bone marrow derived tissues.
Sequence 
MAEIHTPYSSLKKLLSLLNGFVAVSGIILVGLGIGGKCGGASLTNVLGLSSAYLLHVGNL
CLVMGCITVLLGCAGWYGATKESRGTLLFCILSMVIVLIMEVTAATVVLLFFPIVGDVAL
EHTFVTLRKNYRGYNEPDDYSTQWNLVMEKLKCCGVNNYTDFSGSSFEMTTGHTYPRSCC
KSIGSVSCDGRDVSPNVIHQKGCFHKLLKITKTQSFTLSGSSLGAAVIQRWGSRYVAQAG
LELLA
Sequence length 245
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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 Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 26830138
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog 29058716
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog 29058716
★★★★★
★★☆☆☆
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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 17312329
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 17312329
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 26830138
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29058716
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 17312329
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for TSPAN16.

No additional diseases found yet through genes similar to TSPAN16.