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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. Diseases associated with TM9SF2 include Periodontitis 1, Juvenile. 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

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

Enhancers for TM9SF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13F100360 2.1 Ensembl ENCODE 12.7 +862.0 861977 4.8 INSM2 KLF17 FEZF1 RAD21 ZEB1 ZNF366 ZNF391 FOS ZNF362 SP3 TM9SF2 HMGB3P4 PCCA-AS1 LOC105370335 GC13M100358
GH13F099431 1.8 FANTOM5 Ensembl ENCODE 11.7 -66.8 -66819 6.5 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 GPR18 TM9SF2 LINC00449 MIR623 GPR183 CCR12P GC13P099473
GH13F099319 1.6 FANTOM5 Ensembl ENCODE 12.8 -179.6 -179635 4.5 PKNOX1 FEZF1 ZNF2 KLF7 FOS ZNF202 JUNB TBX21 ZNF264 CBX8 TM9SF2 MIR623 STK24-AS1 GPR18 HMGB3P4 UBAC2 GPR183 GC13M099261
GH13F099978 1.6 FANTOM5 Ensembl ENCODE 12.7 +482.1 482143 10.8 SIN3A FEZF1 GLI4 BRCA1 ZNF2 ZNF121 GLIS2 FOS ZNF202 ZNF263 LINC00554 ZIC5 LINC01039 CFL1P8 ARF4P3 RN7SKP9 LINC00411 TM9SF2 HMGB3P4 ZIC2
GH13F098547 1.4 Ensembl ENCODE 12.7 -952.3 -952336 3.4 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 FOS SP3 STK24-AS1 STK24 RN7SKP9 TM9SF2 HMGB3P4 ENSG00000271437 GC13P098445
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TM9SF2 on UCSC Golden Path with GeneCards custom track

Promoters for TM9SF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000056695 726 2601 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 ZHX2

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

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
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

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

(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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: - - -
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 from GTEx, Illumina, BioGPS, and 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:

TM9SF2

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

Primer 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 34 35
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia TM9SF2 34 35
  • 94.26 (n)
cow
(Bos Taurus)
Mammalia TM9SF2 34 35
  • 92.89 (n)
mouse
(Mus musculus)
Mammalia Tm9sf2 34 16 35
  • 90.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TM9SF2 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tm9sf2 34
  • 89.99 (n)
oppossum
(Monodelphis domestica)
Mammalia TM9SF2 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves TM9SF2 34 35
  • 82.12 (n)
lizard
(Anolis carolinensis)
Reptilia TM9SF2 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tm9sf2 34
  • 79.09 (n)
Str.1887 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16276 34
zebrafish
(Danio rerio)
Actinopterygii tm9sf2 34 35
  • 75.52 (n)
wufi20b05 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9761 34
fruit fly
(Drosophila melanogaster)
Insecta CG9318 36 35
  • 68 (a)
worm
(Caenorhabditis elegans)
Secernentea tag-123 34 35
  • 62.1 (n)
F08F1.7 36
  • 62 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMP70 35
  • 36 (a)
ManyToMany
TMN2 35
  • 34 (a)
ManyToMany
wheat
(Triticum aestivum)
Liliopsida Ta.9632 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5415 35
  • 62 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13600 34
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

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
rs1041085 -- 99,528,478(+) aattg(A/C)acaca intron-variant
rs10508038 -- 99,535,890(+) TTTAA(C/G)TCCTT intron-variant
rs10564463 -- 99,505,005(+) AAGAC(-/AAG)AAGAA intron-variant
rs10565584 -- 99,558,723(+) CATTT(-/TGTG)TGTGT intron-variant
rs10651224 -- 99,515,734(+) ACTGG(-/T)TTTTT 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)

Relevant External Links for TM9SF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TM9SF2

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

Disorders for TM9SF2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TM9SF2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
periodontitis 1, juvenile
  • aggressive periodontitis
- elite association - COSMIC cancer census association via MalaCards

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

No data available for 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 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for TM9SF2 Gene

Sources for TM9SF2 Gene

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