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TSPAN2 tetraspanin 2 [ Homo sapiens (human) ]

Gene ID: 10100, updated on 10-Dec-2024

Summary

Official Symbol
TSPAN2provided by HGNC
Official Full Name
tetraspanin 2provided by HGNC
Primary source
HGNC:HGNC:20659
See related
Ensembl:ENSG00000134198 MIM:613133; AllianceGenome:HGNC:20659
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
NET3; TSN2; TSPAN-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 signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Expression
Broad expression in endometrium (RPKM 16.8), urinary bladder (RPKM 10.7) and 19 other tissues See more
Orthologs
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Genomic context

See TSPAN2 in Genome Data Viewer
Location:
1p13.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (115048011..115089503, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (115059448..115100954, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (115590632..115632124, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378915 Neighboring gene synaptonemal complex protein 1 Neighboring gene Sharpr-MPRA regulatory region 5363 Neighboring gene NANOG hESC enhancer GRCh37_chr1:115589292-115589828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:115604953-115605476 Neighboring gene uncharacterized LOC124904359 Neighboring gene thyroid stimulating hormone subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1554 Neighboring gene long intergenic non-protein coding RNA 1765 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:115690783-115691409 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:115721881-115723080 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:115800386-115801585 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:115842590-115843789 Neighboring gene NGF antisense RNA 1 Neighboring gene nerve growth factor

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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ12082

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in astrocyte development IEA
Inferred from Electronic Annotation
more info
 
involved_in axon development IEA
Inferred from Electronic Annotation
more info
 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in microglia development IEA
Inferred from Electronic Annotation
more info
 
involved_in myelination IEA
Inferred from Electronic Annotation
more info
 
involved_in oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in myelin sheath IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
tetraspanin-2
Names
new EST tetraspan 3
tetraspan 2
tetraspan NET-3
tetraspan TM4SF

NCBI Reference Sequences (RefSeq)

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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_001308315.2NP_001295244.1  tetraspanin-2 isoform 2

    See identical proteins and their annotated locations for NP_001295244.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region compared to variant 1. It encodes isoform 2, which has the same N- and C-termini, but is shorter than isoform 1.
    Source sequence(s)
    AA724831, AK022144, AL109660, AU117697, AW015874, AW051326, BG697236, CB993308
    Consensus CDS
    CCDS76193.1
    UniProtKB/TrEMBL
    B1AKP1, B2RD31
    Related
    ENSP00000358528.2, ENST00000369515.6
    Conserved Domains (2) summary
    cd03151
    Location:85161
    CD81_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD81_like subfamily. 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 ...
    pfam00335
    Location:11185
    Tetraspannin; Tetraspanin family
  2. NM_001308316.2NP_001295245.1  tetraspanin-2 isoform 3

    See identical proteins and their annotated locations for NP_001295245.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. It encodes isoform 3, which has the same N- and C-termini, but is shorter than isoform 1.
    Source sequence(s)
    AA724831, AK022144, AL109660, AU117697, AW015874, AW051326, BG697236, CB993308, GU971730
    UniProtKB/TrEMBL
    B1AKP2
    Related
    ENSP00000415256.1, ENST00000433172.3
    Conserved Domains (1) summary
    pfam00335
    Location:11158
    Tetraspannin; Tetraspanin family
  3. NM_005725.6NP_005716.2  tetraspanin-2 isoform 1

    See identical proteins and their annotated locations for NP_005716.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA724831, AK022144, AK315385, AL109660, AU117697, AW015874, AW051326, BG697236, CB993308
    Consensus CDS
    CCDS881.1
    UniProtKB/Swiss-Prot
    D6PTH4, O60636, Q5TET2, Q8WU05
    UniProtKB/TrEMBL
    B2RD31
    Related
    ENSP00000358529.2, ENST00000369516.7
    Conserved Domains (1) summary
    pfam00335
    Location:11210
    Tetraspannin; Tetraspanin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    115048011..115089503 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_016999996.2XP_016855485.1  tetraspanin-2 isoform X1

    UniProtKB/TrEMBL
    B1AKP2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    115059448..115100954 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333723.1XP_054189698.1  tetraspanin-2 isoform X1

    UniProtKB/TrEMBL
    B1AKP2