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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 TM9SF4.

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

Additional gene information for TM9SF2 Gene

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

Genomics for TM9SF2 Gene

GeneHancer (GH) Regulatory Elements for TM9SF2 Gene

Promoters and enhancers for TM9SF2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I099499 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 555.3 +0.4 352 3.6 HDGF PKNOX1 SMAD1 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 IRF4 YY1 TM9SF2 LINC00449 STK24-AS1 GPR183 ENSG00000280710 GC13P099488 RNY3P6 GC13M099538
GH13I099495 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 11.8 -3.9 -3861 4.3 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B LINC01232 ENSG00000280710 TM9SF2 GC13P099488
GH13I099431 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -67.5 -67546 5 PKNOX1 ATF1 SMAD1 ARID4B DMAP1 IRF4 ETS1 SLC30A9 TCF12 CBX5 GPR18 LINC00449 TM9SF2 MIR623 GPR183 CCR12P GC13P099473
GH13I099436 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.7 -64.3 -64326 0.9 HDGF PKNOX1 ATF1 SIN3A YBX1 ZNF2 ARID2 ZNF207 ZNF143 ATF7 GPR18 LINC00449 TM9SF2 MIR623 STK24 CCR12P GC13P099473
GH13I099605 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 4.6 +105.0 105026 2.4 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF213 CLYBL LOC105370332 GPR18 TM9SF2 GC13M099598
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TM9SF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TM9SF2 gene promoter:

Genomic Locations for TM9SF2 Gene

Genomic Locations for TM9SF2 Gene
62,675 bases
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:
    Recommended name:
    Transmembrane 9 superfamily member 2
    Protein Accession:
    Secondary Accessions:
    • A8K399
    • Q2TAY5

    Protein attributes for TM9SF2 Gene

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

neXtProt entry for TM9SF2 Gene

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

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for TM9SF2 Gene


Suggested Antigen Peptide Sequences for TM9SF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the nonaspanin (TM9SF) (TC 9.A.2) 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.

Phenotypes From GWAS Catalog for TM9SF2 Gene

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

Clone 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

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 TM9SF2 gene
Compartment Confidence
plasma membrane 5
extracellular 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:0005887 integral component of plasma membrane TAS 9729438
GO:0010008 endosome membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TM9SF2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TM9SF2 Gene

Pathways & Interactions for TM9SF2 Gene

SuperPathways for TM9SF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TM9SF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9729438
genes like me logo Genes that share ontologies with TM9SF2: view

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

Drugs & Compounds for TM9SF2 Gene

(2) Drugs for TM9SF2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

Clone Products

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: - - -

Relevant External Links for TM9SF2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TM9SF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TM9SF2 Gene

Protein tissue co-expression partners for TM9SF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TM9SF2 Gene:


SOURCE GeneReport for Unigene cluster for TM9SF2 Gene:


mRNA Expression by UniProt/SwissProt for TM9SF2 Gene:

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.

Evidence on tissue expression from TISSUES for TM9SF2 Gene

  • Nervous system(4.9)
  • Intestine(4.5)
  • Liver(3.2)
  • Lung(2.6)
  • Kidney(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with TM9SF2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia TM9SF2 33 34
  • 99.8 (n)
(Canis familiaris)
Mammalia TM9SF2 33 34
  • 94.26 (n)
(Bos Taurus)
Mammalia TM9SF2 33 34
  • 92.89 (n)
(Mus musculus)
Mammalia Tm9sf2 33 16 34
  • 90.13 (n)
(Ornithorhynchus anatinus)
Mammalia TM9SF2 34
  • 90 (a)
(Rattus norvegicus)
Mammalia Tm9sf2 33
  • 89.99 (n)
(Monodelphis domestica)
Mammalia TM9SF2 34
  • 84 (a)
(Gallus gallus)
Aves TM9SF2 33 34
  • 82.12 (n)
(Anolis carolinensis)
Reptilia TM9SF2 34
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tm9sf2 33
  • 79.09 (n)
Str.1887 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16276 33
(Danio rerio)
Actinopterygii tm9sf2 33 34
  • 75.52 (n)
wufi20b05 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9761 33
fruit fly
(Drosophila melanogaster)
Insecta CG9318 35 34
  • 68 (a)
(Caenorhabditis elegans)
Secernentea tag-123 33 34
  • 62.1 (n)
F08F1.7 35
  • 62 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMP70 34
  • 36 (a)
TMN2 34
  • 34 (a)
(Triticum aestivum)
Liliopsida Ta.9632 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5415 34
  • 62 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13600 33
Species where no ortholog for TM9SF2 was found in the sources mined by GeneCards:
  • 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

Gene Tree for TM9SF2 (if available)
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 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 Variation AA Info Type
rs1000044409 -- 99,560,403(+) A/G intron_variant
rs1000095799 -- 99,525,203(+) G/A intron_variant
rs1000114447 -- 99,561,657(+) T/C intron_variant
rs1000152260 -- 99,505,054(+) T/C intron_variant
rs1000163514 -- 99,519,953(+) C/G intron_variant

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

Variant ID Type Subtype PubMed ID
esv3351822 CNV insertion 20981092
esv34003 CNV loss 18971310
nsv510934 OTHER 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)

Additional Variant Information for TM9SF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for TM9SF2 Gene

Additional Disease Information for TM9SF2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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) Schimmöller F … Pfeffer SR (Gene 1998) 2 3 4 22 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 58
  5. 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 58

Products for TM9SF2 Gene

Sources for TM9SF2 Gene

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