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. This enc... See more...

Aliases for TSPAN31 Gene

Aliases for TSPAN31 Gene

  • Tetraspanin 31 2 3 5
  • Sarcoma-Amplified Sequence 3 4
  • Tetraspanin-31 3 4
  • Tspan-31 3 4
  • SAS 3 4
  • Sarcoma Amplified Sequence 2
  • Transmembrane 4 Protein 3
  • TSPAN31 5

External Ids for TSPAN31 Gene

Previous HGNC Symbols for TSPAN31 Gene

  • SAS

Previous GeneCards Identifiers for TSPAN31 Gene

  • GC12P056426
  • GC12P058138
  • GC12P055175

Summaries for TSPAN31 Gene

Entrez Gene Summary for TSPAN31 Gene

  • 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. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008]

GeneCards Summary for TSPAN31 Gene

TSPAN31 (Tetraspanin 31) is a Protein Coding gene. Diseases associated with TSPAN31 include Well-Differentiated Liposarcoma and Hereditary Melanoma. An important paralog of this gene is TSPAN13.

Gene Wiki entry for TSPAN31 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSPAN31 Gene

Genomics for TSPAN31 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TSPAN31 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSPAN31 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TSPAN31

Top Transcription factor binding sites by QIAGEN in the TSPAN31 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • E2F-2
  • E2F-3a
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for TSPAN31 Gene

Latest Assembly
chr12:57,738,013-57,750,219
(GRCh38/hg38)
Size:
12,207 bases
Orientation:
Plus strand

Previous Assembly
chr12:58,138,822-58,144,002
(GRCh37/hg19 by Entrez Gene)
Size:
5,181 bases
Orientation:
Plus strand

chr12:58,131,796-58,143,994
(GRCh37/hg19 by Ensembl)
Size:
12,199 bases
Orientation:
Plus strand

Genomic View for TSPAN31 Gene

Genes around TSPAN31 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSPAN31 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSPAN31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSPAN31 Gene

Proteins for TSPAN31 Gene

  • Protein details for TSPAN31 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12999-TSN31_HUMAN
    Recommended name:
    Tetraspanin-31
    Protein Accession:
    Q12999
    Secondary Accessions:
    • O00577
    • Q53X76

    Protein attributes for TSPAN31 Gene

    Size:
    210 amino acids
    Molecular mass:
    23053 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TSPAN31 Gene

Post-translational modifications for TSPAN31 Gene

  • Glycosylation at Asn100, Asn109, Asn117, and Asn134
  • Modification sites at PhosphoSitePlus

Protein products for research

  • Abcam proteins for TSPAN31

No data available for DME Specific Peptides for TSPAN31 Gene

Domains & Families for TSPAN31 Gene

Gene Families for TSPAN31 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TSPAN31 Gene

InterPro:
Blocks:
  • Transmembrane four family signature
ProtoNet:

Suggested Antigen Peptide Sequences for TSPAN31 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55837, highly similar to Tetraspanin-31 (B4DFJ7_HUMAN)
  • cDNA, FLJ96878, Homo sapiens sarcoma amplified sequence (SAS), mRNA (Q53X76_HUMAN)
  • Sarcoma-amplified sequence (TSN31_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q12999

UniProtKB/Swiss-Prot:

TSN31_HUMAN :
  • Belongs to the tetraspanin (TM4SF) family.
Family:
  • Belongs to the tetraspanin (TM4SF) family.
genes like me logo Genes that share domains with TSPAN31: view

Function for TSPAN31 Gene

Phenotypes From GWAS Catalog for TSPAN31 Gene

Gene Ontology (GO) - Molecular Function for TSPAN31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with TSPAN31: view
genes like me logo Genes that share phenotypes with TSPAN31: view

Animal Models for research

  • Taconic Biosciences Mouse Models for TSPAN31

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSPAN31

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TSPAN31 Gene

Localization for TSPAN31 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSPAN31 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSPAN31 gene
Compartment Confidence
plasma membrane 4
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TSPAN31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane IEA,TAS 8134123
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TSPAN31: view

Pathways & Interactions for TSPAN31 Gene

PathCards logo

SuperPathways for TSPAN31 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TSPAN31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008284 positive regulation of cell proliferation TAS 8134123
genes like me logo Genes that share ontologies with TSPAN31: view

No data available for Pathways by source and SIGNOR curated interactions for TSPAN31 Gene

Drugs & Compounds for TSPAN31 Gene

No Compound Related Data Available

Transcripts for TSPAN31 Gene

mRNA/cDNA for TSPAN31 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSPAN31

Alternative Splicing Database (ASD) splice patterns (SP) for TSPAN31 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - -
SP6: - -
SP7:
SP8: -

Relevant External Links for TSPAN31 Gene

GeneLoc Exon Structure for
TSPAN31

Expression for TSPAN31 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TSPAN31 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TSPAN31 Gene

This gene is overexpressed in Pancreas (30.3), Colon (12.1), and Fetal gut (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TSPAN31 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TSPAN31

SOURCE GeneReport for Unigene cluster for TSPAN31 Gene:

Hs.632708

Evidence on tissue expression from TISSUES for TSPAN31 Gene

  • Nervous system(3.5)
genes like me logo Genes that share expression patterns with TSPAN31: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TSPAN31 Gene

Orthologs for TSPAN31 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSPAN31 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TSPAN31 30 31
  • 99.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TSPAN31 30
  • 94.13 (n)
SAS 31
  • 85 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TSPAN31 30 31
  • 93.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tspan31 30 17 31
  • 86.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tspan31 30
  • 85.87 (n)
Lizard
(Anolis carolinensis)
Reptilia TSPAN31 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tspan31 30
  • 67.15 (n)
Str.10756 30
Zebrafish
(Danio rerio)
Actinopterygii sas 30 31
  • 65.87 (n)
OneToOne
zgc56710 30
Fruit Fly
(Drosophila melanogaster)
Insecta Tsp97E 31
  • 35 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10763 31
  • 42 (a)
OneToMany
Species where no ortholog for TSPAN31 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TSPAN31 Gene

ENSEMBL:
Gene Tree for TSPAN31 (if available)
TreeFam:
Gene Tree for TSPAN31 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TSPAN31: view image

Paralogs for TSPAN31 Gene

(2) SIMAP similar genes for TSPAN31 Gene using alignment to 8 proteins:

  • TSN31_HUMAN
  • B4DFJ7_HUMAN
  • F8VNT7_HUMAN
  • F8VP43_HUMAN
  • F8VS78_HUMAN
  • F8VVF8_HUMAN
  • F8VW54_HUMAN
  • F8VWE0_HUMAN
genes like me logo Genes that share paralogs with TSPAN31: view

Variants for TSPAN31 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TSPAN31 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
834447 Uncertain Significance: Hereditary melanoma 57,748,602(+) T/TAA
NM_000075.4(CDK4):c.833_834dup (p.Asn279fs)
FRAMESHIFT_VARIANT,THREE_PRIME_UTR
841483 Uncertain Significance: Hereditary melanoma 57,748,556(+) T/C
NM_000075.4(CDK4):c.881A>G (p.Tyr294Cys)
MISSENSE_VARIANT,THREE_PRIME_UTR
842652 Uncertain Significance: Hereditary melanoma 57,749,484(+) G/C
NM_000075.4(CDK4):c.653C>G (p.Ser218Cys)
MISSENSE_VARIANT,THREE_PRIME_UTR
845930 Uncertain Significance: Hereditary melanoma 57,749,280(+) C/G
NM_000075.4(CDK4):c.721G>C (p.Asp241His)
MISSENSE_VARIANT,THREE_PRIME_UTR
854997 Uncertain Significance: Hereditary melanoma 57,749,484(+) G/T
NM_000075.4(CDK4):c.653C>A (p.Ser218Tyr)
MISSENSE_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TSPAN31 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TSPAN31 Gene

Variant ID Type Subtype PubMed ID
nsv470296 CNV loss 18288195
nsv470297 CNV gain 18288195
nsv510601 CNV deletion 20534489
nsv559045 CNV loss 21841781
nsv819021 CNV loss 19587683
nsv826384 CNV gain 20364138
nsv826386 CNV gain 20364138

Variation tolerance for TSPAN31 Gene

Residual Variation Intolerance Score: 32.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.26; 5.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSPAN31 Gene

Human Gene Mutation Database (HGMD)
TSPAN31
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSPAN31

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSPAN31 Gene

Disorders for TSPAN31 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TSPAN31 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
well-differentiated liposarcoma
  • atypical lipomatous tumor
hereditary melanoma
  • familial cutaneous melanoma
liposarcoma
familial retinoblastoma
  • hereditary retinoblastoma
peripheral osteosarcoma
  • surface osteosarcoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TSPAN31

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TSPAN31: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TSPAN31 Gene

Publications for TSPAN31 Gene

  1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Amplification of CDK4, MDM2, SAS and GLI genes in leiomyosarcoma, alveolar and embryonal rhabdomyosarcoma. (PMID: 15024701) Ragazzini P … Benassi MS (Histology and histopathology 2004) 3 23
  5. Transcript mapping in a 46-kb sequenced region at the core of 12q13.3 amplification in human cancers. (PMID: 9192850) Elkahloun AG … Meltzer PS (Genomics 1997) 3 4

Products for TSPAN31 Gene

Sources for TSPAN31 Gene