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TSPAN9 tetraspanin 9 [ Homo sapiens (human) ]

Gene ID: 10867, updated on 15-Apr-2019

Summary

Official Symbol
TSPAN9provided by HGNC
Official Full Name
tetraspanin 9provided by HGNC
Primary source
HGNC:HGNC:21640
See related
Ensembl:ENSG00000011105 MIM:613137
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NET5; NET-5; PP1057
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 signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009]
Expression
Broad expression in heart (RPKM 31.5), placenta (RPKM 20.4) and 23 other tissues See more
Orthologs

Genomic context

See TSPAN9 in Genome Data Viewer
Location:
12p13.33-p13.32
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (3077355..3286564)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (3186521..3395730)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene TEA domain transcription factor 4 Neighboring gene ribosomal protein L13a pseudogene 24 Neighboring gene ribosomal protein S27 pseudogene 3 Neighboring gene uncharacterized LOC105369606 Neighboring gene uncharacterized LOC100128253 Neighboring gene tetraspanin 11 pseudogene Neighboring gene long intergenic non-protein coding RNA 2417

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
NHGRI GWA Catalog
Genome-wide association study of degenerative bony changes of the temporomandibular joint.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
cell surface receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
focal adhesion HDA PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
tetraspanin-enriched microdomain IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
tetraspanin-9
Names
new EST tetraspan 5
tetraspan NET-5
transmembrane 4 superfamily member tetraspan NET-5
tspan-9

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001168320.1NP_001161792.1  tetraspanin-9

    See identical proteins and their annotated locations for NP_001161792.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC005865, AC005912, AC125807
    Consensus CDS
    CCDS8520.1
    UniProtKB/Swiss-Prot
    O75954
    Related
    ENSP00000444799.1, ENST00000537971.5
    Conserved Domains (1) summary
    cd03165
    Location:105202
    NET-5_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), NET-5_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...
  2. NM_006675.5NP_006666.1  tetraspanin-9

    See identical proteins and their annotated locations for NP_006666.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC005865, AC005912, AC125807, BC071881
    Consensus CDS
    CCDS8520.1
    UniProtKB/Swiss-Prot
    O75954
    Related
    ENSP00000011898.5, ENST00000011898.10
    Conserved Domains (1) summary
    cd03165
    Location:105202
    NET-5_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), NET-5_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    3077355..3286564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520912.3XP_011519214.1  tetraspanin-9 isoform X1

    See identical proteins and their annotated locations for XP_011519214.1

    Conserved Domains (2) summary
    cd03165
    Location:41138
    NET-5_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), NET-5_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...
    pfam00335
    Location:1166
    Tetraspannin; Tetraspanin family
  2. XM_011520913.3XP_011519215.1  tetraspanin-9 isoform X1

    See identical proteins and their annotated locations for XP_011519215.1

    Conserved Domains (2) summary
    cd03165
    Location:41138
    NET-5_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), NET-5_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...
    pfam00335
    Location:1166
    Tetraspannin; Tetraspanin family

RNA

  1. XR_001748559.1 RNA Sequence

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