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TSPAN14 tetraspanin 14 [ Homo sapiens (human) ]

Gene ID: 81619, updated on 11-Apr-2024

Summary

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Official Symbol
TSPAN14provided by HGNC
Official Full Name
tetraspanin 14provided by HGNC
Primary source
HGNC:HGNC:23303
See related
Ensembl:ENSG00000108219 AllianceGenome:HGNC:23303
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TM4SF14; DC-TM4F2; tspan-14
Summary
Enables enzyme binding activity. Involved in positive regulation of Notch signaling pathway; protein localization to plasma membrane; and protein maturation. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 22.8), placenta (RPKM 20.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
10q23.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (80454310..80522631)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (81323409..81391729)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (82214066..82282387)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak1026 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr10:82123032-82123216 Neighboring gene DPY30 domain containing 1 Neighboring gene DPY30 domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:82163430-82163602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82168661-82169254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:82170101-82170600 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:82177040-82177582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3654 Neighboring gene peroxiredoxin like 2A Neighboring gene Sharpr-MPRA regulatory region 12974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82214375-82214892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3659 Neighboring gene Sharpr-MPRA regulatory region 907 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82224527-82225098 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82225099-82225670 Neighboring gene Sharpr-MPRA regulatory region 4556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2547 Neighboring gene Sharpr-MPRA regulatory region 2609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82257110-82258073 Neighboring gene Sharpr-MPRA regulatory region 10623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3664 Neighboring gene uncharacterized LOC124902471 Neighboring gene TSPAN14 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3665 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3670 Neighboring gene SH2 domain containing 4B Neighboring gene MPRA-validated peak1027 silencer Neighboring gene uncharacterized LOC105378387

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. TspanC8 Tetraspanins and A Disintegrin and Metalloprotease 10 (ADAM10) Interact via Their Extracellular Regions: EVIDENCE FOR DISTINCT BINDING MECHANISMS FOR DIFFERENT TspanC8 PROTEINS. Noy PJ, et al. J Biol Chem, 2016 Feb 12. PMID 26668317, Free PMC Article
  2. TspanC8 tetraspanins differentially regulate the cleavage of ADAM10 substrates, Notch activation and ADAM10 membrane compartmentalization. Jouannet S, et al. Cell Mol Life Sci, 2016 May. PMID 26686862, Free PMC Article
  3. Identification of genes associated with non-small-cell lung cancer promotion and progression. Bankovic J, et al. Lung Cancer, 2010 Feb. PMID 19473719
  4. The TspanC8 subgroup of tetraspanins interacts with A disintegrin and metalloprotease 10 (ADAM10) and regulates its maturation and cell surface expression. Haining EJ, et al. J Biol Chem, 2012 Nov 16. PMID 23035126, Free PMC Article
  5. TspanC8 tetraspanins regulate ADAM10/Kuzbanian trafficking and promote Notch activation in flies and mammals. Dornier E, et al. J Cell Biol, 2012 Oct 29. PMID 23091066, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data suggest that large extracellular loop of Tspan14 mediates interaction with ADAM10, promotes ADAM10 maturation/trafficking to cell surface, and affects ADAM10 substrate specificity; ADAM10/Tspan14 interact in platelets/vascular endothelial cells.
    Title: TspanC8 Tetraspanins and A Disintegrin and Metalloprotease 10 (ADAM10) Interact via Their Extracellular Regions: EVIDENCE FOR DISTINCT BINDING MECHANISMS FOR DIFFERENT TspanC8 PROTEINS.
  2. genetic alterations of TSPAN14, SLC2A13 and PHF20 could play a role in non-small-cell lung cancer promotion
    Title: Identification of genes associated with non-small-cell lung cancer promotion and progression.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC11352

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein maturation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cell surface IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in specific granule membrane TAS
Traceable Author Statement
more info
  
located_in tertiary granule membrane TAS
Traceable Author Statement
more info
  
located_in tetraspanin-enriched microdomain IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
tetraspanin-14
Names
tetraspanin similar to TM4SF9
transmembrane 4 superfamily member 14

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_001128309.3 → NP_001121781.1  tetraspanin-14 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001121781.1

    Status: VALIDATED

    Source sequence(s)
    AC021028, BM991301, BQ923322, DC300676
    Consensus CDS
    CCDS44448.1
    UniProtKB/Swiss-Prot
    Q8NG11
    Related
    ENSP00000418195.1, ENST00000481124.5
    Conserved Domains (1) summary
    cl02781
    Location:23 → 110
    tetraspanin_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL). 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 spans the ...

  2. NM_001351266.2 → NP_001338195.1  tetraspanin-14 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021028, AL136638, BC002920, BM991301, BQ923322
    Consensus CDS
    CCDS7369.1
    UniProtKB/Swiss-Prot
    A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
    Conserved Domains (1) summary
    cd03159
    Location:113 → 233
    TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_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 ...

  3. NM_001351267.4 → NP_001338196.1  tetraspanin-14 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021028
    Consensus CDS
    CCDS7369.1
    UniProtKB/Swiss-Prot
    A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
    Related
    ENSP00000361231.1, ENST00000372158.6
    Conserved Domains (1) summary
    cd03159
    Location:113 → 233
    TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_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 ...

  4. NM_001351268.2 → NP_001338197.1  tetraspanin-14 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021028, AL136638, AL519790, BC002920, BM991301, BQ923322
    Consensus CDS
    CCDS7369.1
    UniProtKB/Swiss-Prot
    A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
    Conserved Domains (1) summary
    cd03159
    Location:113 → 233
    TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_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 ...

  5. NM_001351269.2 → NP_001338198.1  tetraspanin-14 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021028, BC002920, BM991301, DN998010
    Consensus CDS
    CCDS7369.1
    UniProtKB/Swiss-Prot
    A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
    Conserved Domains (1) summary
    cd03159
    Location:113 → 233
    TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_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 ...

  6. NM_001351270.2 → NP_001338199.1  tetraspanin-14 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021028, AL136638, BC002920, BM991301, BQ923322
    Consensus CDS
    CCDS7369.1
    UniProtKB/Swiss-Prot
    A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
    Related
    ENSP00000361229.1, ENST00000372156.5
    Conserved Domains (1) summary
    cd03159
    Location:113 → 233
    TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_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 ...

  7. NM_001351271.2 → NP_001338200.1  tetraspanin-14 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021028, AL136638, BC002920, BM991301, BQ923322
    Consensus CDS
    CCDS7369.1
    UniProtKB/Swiss-Prot
    A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
    Conserved Domains (1) summary
    cd03159
    Location:113 → 233
    TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_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 ...

  8. NM_001351272.2 → NP_001338201.1  tetraspanin-14 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021028, AL136638, BC002920, BM991301, BQ923322
    Consensus CDS
    CCDS7369.1
    UniProtKB/Swiss-Prot
    A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
    Conserved Domains (1) summary
    cd03159
    Location:113 → 233
    TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_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 ...

  9. NM_030927.4 → NP_112189.2  tetraspanin-14 isoform 1

    See identical proteins and their annotated locations for NP_112189.2

    Status: VALIDATED

    Source sequence(s)
    AC021028, AL136638, BC002920, BM991301, BQ923322
    Consensus CDS
    CCDS7369.1
    UniProtKB/Swiss-Prot
    A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
    Related
    ENSP00000396270.2, ENST00000429989.8
    Conserved Domains (1) summary
    cd03159
    Location:113 → 233
    TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    80454310..80522631
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    81323409..81391729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_120662.1: Suppressed sequence

    Description
    NR_120662.1: This RefSeq was removed because the gene was discontinued.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NG11.1 GenPept UniProtKB/Swiss-Prot:Q8NG11

Gene LinkOut

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