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Aliases for TM9SF2 Gene

Aliases for TM9SF2 Gene

  • Transmembrane 9 Superfamily Member 2 2 3 5
  • P76 3 4
  • Dinucleotide Oxidase Disulfide Thiol Exchanger 3 Superfamily Member 2 3
  • Transmembrane Protein 9 Superfamily Member 2 3
  • 76 KDa Membrane Protein 3

External Ids for TM9SF2 Gene

Previous GeneCards Identifiers for TM9SF2 Gene

  • GC13P098513
  • GC13P094540
  • GC13P098990
  • GC13P097851
  • GC13P098951
  • GC13P100153
  • GC13P080748

Summaries for TM9SF2 Gene

Entrez Gene Summary for TM9SF2 Gene

  • This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]

GeneCards Summary for TM9SF2 Gene

TM9SF2 (Transmembrane 9 Superfamily Member 2) is a Protein Coding gene. An important paralog of this gene is TM9SF1.

UniProtKB/Swiss-Prot for TM9SF2 Gene

  • In the intracellular compartments, may function as a channel or small molecule transporter.

Gene Wiki entry for TM9SF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TM9SF2 Gene

Genomics for TM9SF2 Gene

Regulatory Elements for TM9SF2 Gene

Promoters for TM9SF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TM9SF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TM9SF2 Gene

Chromosome:
13
Start:
99,501,374 bp from pter
End:
99,564,048 bp from pter
Size:
62,675 bases
Orientation:
Plus strand

Genomic View for TM9SF2 Gene

Genes around TM9SF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TM9SF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TM9SF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TM9SF2 Gene

Proteins for TM9SF2 Gene

  • Protein details for TM9SF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99805-TM9S2_HUMAN
    Recommended name:
    Transmembrane 9 superfamily member 2
    Protein Accession:
    Q99805
    Secondary Accessions:
    • A8K399
    • Q2TAY5

    Protein attributes for TM9SF2 Gene

    Size:
    663 amino acids
    Molecular mass:
    75776 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TM9SF2 Gene

Proteomics data for TM9SF2 Gene at MOPED

Post-translational modifications for TM9SF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TM9SF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TM9SF2 Gene

Domains & Families for TM9SF2 Gene

Gene Families for TM9SF2 Gene

Protein Domains for TM9SF2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TM9SF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99805

UniProtKB/Swiss-Prot:

TM9S2_HUMAN :
  • Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family.
Family:
  • Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family.
genes like me logo Genes that share domains with TM9SF2: view

Function for TM9SF2 Gene

Molecular function for TM9SF2 Gene

UniProtKB/Swiss-Prot Function:
In the intracellular compartments, may function as a channel or small molecule transporter.
genes like me logo Genes that share phenotypes with TM9SF2: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TM9SF2 Gene

Localization for TM9SF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TM9SF2 Gene

Endosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TM9SF2 Gene COMPARTMENTS Subcellular localization image for TM9SF2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
endosome 4

Gene Ontology (GO) - Cellular Components for TM9SF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome TAS 9729438
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with TM9SF2: view

Pathways & Interactions for TM9SF2 Gene

SuperPathways for TM9SF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TM9SF2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TM9SF2 Gene

Drugs & Compounds for TM9SF2 Gene

(1) Drugs for TM9SF2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for TM9SF2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TM9SF2: view

Transcripts for TM9SF2 Gene

mRNA/cDNA for TM9SF2 Gene

Unigene Clusters for TM9SF2 Gene

Transmembrane 9 superfamily member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TM9SF2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17
SP1: - - -
SP2:
SP3:
SP4:

Relevant External Links for TM9SF2 Gene

GeneLoc Exon Structure for
TM9SF2
ECgene alternative splicing isoforms for
TM9SF2

Expression for TM9SF2 Gene

mRNA expression in normal human tissues for TM9SF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TM9SF2 Gene

This gene is overexpressed in Nasal epithelium (45.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TM9SF2 Gene



SOURCE GeneReport for Unigene cluster for TM9SF2 Gene Hs.607896

mRNA Expression by UniProt/SwissProt for TM9SF2 Gene

Q99805-TM9S2_HUMAN
Tissue specificity: Ubiquitously expressed. Especially abundant in pancreas, highly expressed in kidney, lower levels in heart, brain, skeletal muscle and placenta. Lowest expression in lung and liver.
genes like me logo Genes that share expression patterns with TM9SF2: view

Protein tissue co-expression partners for TM9SF2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for TM9SF2 Gene

Orthologs for TM9SF2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TM9SF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TM9SF2 35
  • 99.8 (n)
  • 100 (a)
TM9SF2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TM9SF2 36
  • 95 (a)
OneToOne
TM9SF2 35
  • 92.89 (n)
  • 96.67 (a)
dog
(Canis familiaris)
Mammalia TM9SF2 35
  • 94.26 (n)
  • 97.28 (a)
TM9SF2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tm9sf2 36
  • 96 (a)
OneToOne
Tm9sf2 16
Tm9sf2 35
  • 90.13 (n)
  • 95.77 (a)
oppossum
(Monodelphis domestica)
Mammalia TM9SF2 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TM9SF2 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tm9sf2 35
  • 89.99 (n)
  • 95.78 (a)
chicken
(Gallus gallus)
Aves TM9SF2 36
  • 90 (a)
OneToOne
TM9SF2 35
  • 82.12 (n)
  • 93.06 (a)
lizard
(Anolis carolinensis)
Reptilia TM9SF2 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16276 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1887 35
tm9sf2 35
  • 79.09 (n)
  • 88.99 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9761 35
zebrafish
(Danio rerio)
Actinopterygii tm9sf2 36
  • 84 (a)
OneToOne
tm9sf2 35
  • 75.52 (n)
  • 86.8 (a)
wufi20b05 35
fruit fly
(Drosophila melanogaster)
Insecta CG9318 37
  • 68 (a)
CG9318 36
  • 67 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tag-123 35
  • 62.1 (n)
  • 63.69 (a)
tag-123 36
  • 62 (a)
OneToOne
F08F1.7 37
  • 62 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMP70 36
  • 36 (a)
ManyToMany
TMN2 36
  • 34 (a)
ManyToMany
wheat
(Triticum aestivum)
Liliopsida Ta.9632 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13600 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5415 36
  • 62 (a)
OneToOne
Species with no ortholog for TM9SF2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for TM9SF2 Gene

ENSEMBL:
Gene Tree for TM9SF2 (if available)
TreeFam:
Gene Tree for TM9SF2 (if available)

Paralogs for TM9SF2 Gene

Paralogs for TM9SF2 Gene

(4) SIMAP similar genes for TM9SF2 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for TM9SF2 Gene

genes like me logo Genes that share paralogs with TM9SF2: view

Variants for TM9SF2 Gene

Sequence variations from dbSNP and Humsavar for TM9SF2 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs2147621 -- 99,509,954(-) agggt(C/G)aaata intron-variant
rs2390278 -- 99,507,458(+) TGTCT(A/G)TGTAA intron-variant
rs2390279 -- 99,556,451(+) tgttt(C/T)gcctg intron-variant
rs1980770 -- 99,554,241(-) CTCTA(A/C)ACGAG intron-variant
rs3842312 -- 99,520,485(+) TCCCC(-/CT)GTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TM9SF2 Gene

Variant ID Type Subtype PubMed ID
esv34003 CNV Loss 18971310
nsv510934 CNV Complex 20534489

Variation tolerance for TM9SF2 Gene

Residual Variation Intolerance Score: 10.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TM9SF2 Gene

HapMap Linkage Disequilibrium report
TM9SF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TM9SF2 Gene

Disorders for TM9SF2 Gene

Relevant External Links for TM9SF2

Genetic Association Database (GAD)
TM9SF2
Human Genome Epidemiology (HuGE) Navigator
TM9SF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TM9SF2

No disorders were found for TM9SF2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TM9SF2 Gene

Publications for TM9SF2 Gene

  1. Characterization of a 76 kDa endosomal, multispanning membrane protein that is highly conserved throughout evolution. (PMID: 9729438) Schimmoeller F. … Pfeffer S.R. (Gene 1998) 2 3 4 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  5. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PMID: 21903422) Li S. … Dorf M.E. (Immunity 2011) 3

Products for TM9SF2 Gene

Sources for TM9SF2 Gene

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