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TSPAN12 tetraspanin 12 [ Homo sapiens (human) ]

Gene ID: 23554, updated on 27-Nov-2024

Summary

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Official Symbol
TSPAN12provided by HGNC
Official Full Name
tetraspanin 12provided by HGNC
Primary source
HGNC:HGNC:21641
See related
Ensembl:ENSG00000106025 MIM:613138; AllianceGenome:HGNC:21641
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
EVR5; NET2; NET-2; TM4SF12
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. [provided by RefSeq, Jul 2008]
Expression
Broad expression in kidney (RPKM 32.8), adrenal (RPKM 28.5) and 21 other tissues See more
Orthologs
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Genomic context

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See TSPAN12 in Genome Data Viewer
Location:
7q31.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (120787320..120858335, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (122102649..122173766, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (120427374..120498198, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375477 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:119896333-119897012 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:119897013-119897691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26551 Neighboring gene potassium voltage-gated channel subfamily D member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26554 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:120142038-120142659 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:120161695-120162506 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:120162507-120163318 Neighboring gene RNA, U6 small nuclear 581, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr7:120422555-120423072 Neighboring gene Sharpr-MPRA regulatory region 15278 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18572 Neighboring gene uncharacterized LOC124901733 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:120497141-120497360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18573 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:120508165-120508289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26555 Neighboring gene uncharacterized LOC124901734 Neighboring gene RNA, 5S ribosomal pseudogene 240 Neighboring gene inhibitor of growth family member 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy. Ju Y, et al. Hum Genomics, 2024 Mar 1. PMID 38424652, Free PMC Article
  2. Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes. Yang H, et al. Mol Vis, 2011 Apr 29. PMID 21552475, Free PMC Article
  3. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Poulter JA, et al. Invest Ophthalmol Vis Sci, 2012 May 14. PMID 22427576
  4. Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant. Savarese M, et al. Ophthalmic Genet, 2014 Sep. PMID 23834558
  5. Tetraspanin TSPAN12 regulates tumor growth and metastasis and inhibits β-catenin degradation. Knoblich K, et al. Cell Mol Life Sci, 2014 Apr. PMID 23955570, Free PMC Article

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. METTL3-mediated m[6]A modification of lncRNA TSPAN12 promotes metastasis of hepatocellular carcinoma through SENP1-depentent deSUMOylation of EIF3I.
    Title: METTL3-mediated m(6)A modification of lncRNA TSPAN12 promotes metastasis of hepatocellular carcinoma through SENP1-depentent deSUMOylation of EIF3I.
  2. Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.
    Title: Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.
  3. Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.
    Title: Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.
  4. Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy.
    Title: Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy.
  5. Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review.
    Title: Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review.
  6. A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
    Title: A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
  7. TSPAN12 (Tetraspanin 12) Is a Novel Negative Regulator of Aldosterone Production in Adrenal Physiology and Aldosterone-Producing Adenomas.
    Title: TSPAN12 (Tetraspanin 12) Is a Novel Negative Regulator of Aldosterone Production in Adrenal Physiology and Aldosterone-Producing Adenomas.
  8. A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.
    Title: A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.
  9. A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
    Title: A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
  10. Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree.
    Title: Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree.
Submit: New GeneRIF Correction See all GeneRIFs (49)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Exudative vitreoretinopathy 5
MedGen: C2750079 OMIM: 613310 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables Wnt receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Norrin signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in angiogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cell surface receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in maintenance of blood-brain barrier IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in retina layer formation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
tetraspanin-12
Names
tetraspan NET-2
transmembrane 4 superfamily member 12
tspan-12

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.

Genomic

  1. NG_023203.1 RefSeqGene

    Range
    4980..75804
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012338.4 → NP_036470.1  tetraspanin-12

    See identical proteins and their annotated locations for NP_036470.1

    Status: REVIEWED

    Source sequence(s)
    AC004456, AY358703, BF338835, BI964728
    Consensus CDS
    CCDS5777.1
    UniProtKB/Swiss-Prot
    A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0
    Related
    ENSP00000222747.3, ENST00000222747.8
    Conserved Domains (2) summary
    cd03157
    Location:116 → 218
    TM4SF12_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF12_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 ...
    pfam00335
    Location:10 → 244
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    120787320..120858335 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420096.1 → XP_047276052.1  tetraspanin-12 isoform X2

  2. XM_005250239.4 → XP_005250296.1  tetraspanin-12 isoform X1

    See identical proteins and their annotated locations for XP_005250296.1

    UniProtKB/Swiss-Prot
    A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0
    Conserved Domains (2) summary
    cd03157
    Location:116 → 218
    TM4SF12_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF12_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 ...
    pfam00335
    Location:10 → 244
    Tetraspannin; Tetraspanin family

  3. XM_047420095.1 → XP_047276051.1  tetraspanin-12 isoform X1

    UniProtKB/Swiss-Prot
    A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0
    Related
    ENSP00000397699.1, ENST00000415871.5

  4. XM_047420097.1 → XP_047276053.1  tetraspanin-12 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    122102649..122173766 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357720.1 → XP_054213695.1  tetraspanin-12 isoform X1

    UniProtKB/Swiss-Prot
    A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

  2. XM_054357724.1 → XP_054213699.1  tetraspanin-12 isoform X2

  3. XM_054357716.1 → XP_054213691.1  tetraspanin-12 isoform X1

    UniProtKB/Swiss-Prot
    A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

  4. XM_054357723.1 → XP_054213698.1  tetraspanin-12 isoform X2

  5. XM_054357719.1 → XP_054213694.1  tetraspanin-12 isoform X1

    UniProtKB/Swiss-Prot
    A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

  6. XM_054357718.1 → XP_054213693.1  tetraspanin-12 isoform X1

    UniProtKB/Swiss-Prot
    A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

  7. XM_054357717.1 → XP_054213692.1  tetraspanin-12 isoform X1

    UniProtKB/Swiss-Prot
    A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

  8. XM_054357722.1 → XP_054213697.1  tetraspanin-12 isoform X1

    UniProtKB/Swiss-Prot
    A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

  9. XM_054357721.1 → XP_054213696.1  tetraspanin-12 isoform X1

    UniProtKB/Swiss-Prot
    A4D0V8, B4DRG6, O95859, Q549U9, Q8N5Y0

  10. XM_054357725.1 → XP_054213700.1  tetraspanin-12 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95859.1 GenPept UniProtKB/Swiss-Prot:O95859

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