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Aliases for TMEM2 Gene

Aliases for TMEM2 Gene

  • Transmembrane Protein 2 2 3 4 5
  • EC 3.2.1.35 4
  • KIAA1412 4

External Ids for TMEM2 Gene

Previous GeneCards Identifiers for TMEM2 Gene

  • GC09M065342
  • GC09M066154
  • GC09M067868
  • GC09M069755
  • GC09M071527
  • GC09M073488
  • GC09M073371
  • GC09M074298
  • GC09M044121

Summaries for TMEM2 Gene

Entrez Gene Summary for TMEM2 Gene

  • This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017]

GeneCards Summary for TMEM2 Gene

TMEM2 (Transmembrane Protein 2) is a Protein Coding gene. Diseases associated with TMEM2 include Deafness, Autosomal Recessive 7 and Benign Familial Infantile Epilepsy. An important paralog of this gene is CEMIP.

UniProtKB/Swiss-Prot for TMEM2 Gene

  • Cell surface hyaluronidase that mediates the initial cleavage of extracellular high-molecular-weight hyaluronan into intermediate-size hyaluronan of approximately 5 kDa fragments (PubMed:28246172). Acts as a regulator of angiogenesis and heart morphogenesis by mediating degradation of extracellular hyaluronan, thereby regulating VEGF signaling (By similarity). Is very specific to hyaluronan; not able to cleave chondroitin sulfate or dermatan sulfate (PubMed:28246172).

Additional gene information for TMEM2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM2 Gene

Genomics for TMEM2 Gene

Regulatory Elements for TMEM2 Gene

Enhancers for TMEM2 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
GH09H071780 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.3 +34.0 33978 4 PKNOX1 NFIB ARID4B SIN3A BMI1 RAD21 RFX5 FOS RCOR1 CREM TMEM2 LOC100420790 GC09P071678
GH09H071791 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.9 +21.8 21810 6 PKNOX1 FOXA2 TBL1XR1 BATF YY1 TEAD3 ETV6 RUNX3 MAFK IKZF2 TMEM2 ABHD17B C9orf85 LOC100420790 GC09P071678
GH09H072041 1.4 FANTOM5 Ensembl ENCODE 13.4 -226.8 -226797 4 TBP FOXA2 TAF1 MAX ZNF644 RAD21 YY1 POLR2A HNF4G CHD2 TMEM2 LINC01504 ZFAND5 PIR33466 GC09P072037 GC09M072053
GH09H072024 1 Ensembl ENCODE 11.6 -209.1 -209054 1 CTCF MAX EBF1 RAD21 GATA3 SMC3 ZNF143 RUNX3 DEK ZNF654 TMEM2 LOC101927108 HSPB1P1
GH09H071778 0.9 ENCODE 11.8 +38.4 38391 0 ELF3 FOXA2 ATF1 MLX ARID4B DNMT3B THRB RARA TCF12 ATF7 TMEM2 LOC100420790 GC09P071678
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM2 Gene

Chromosome:
9
Start:
71,683,366 bp from pter
End:
71,816,690 bp from pter
Size:
133,325 bases
Orientation:
Minus strand

Genomic View for TMEM2 Gene

Genes around TMEM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM2 Gene

Proteins for TMEM2 Gene

  • Protein details for TMEM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHN6-TMEM2_HUMAN
    Recommended name:
    Cell surface hyaluronidase
    Protein Accession:
    Q9UHN6
    Secondary Accessions:
    • A6H8W9
    • B2RTQ6
    • Q5T838
    • Q5T839
    • Q5T840
    • Q5T841
    • Q8NBP6
    • Q9P2D5

    Protein attributes for TMEM2 Gene

    Size:
    1383 amino acids
    Molecular mass:
    154374 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92650.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC11574.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI15172.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI15173.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI15174.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI15175.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM2 Gene

Post-translational modifications for TMEM2 Gene

  • Glycosylation at Asn248, Asn292, posLast=914914, posLast=980980, and posLast=12341234
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMEM2 Gene

Domains & Families for TMEM2 Gene

Gene Families for TMEM2 Gene

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

Protein Domains for TMEM2 Gene

Suggested Antigen Peptide Sequences for TMEM2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UHN6

UniProtKB/Swiss-Prot:

TMEM2_HUMAN :
  • Belongs to the TMEM2 family.
Family:
  • Belongs to the TMEM2 family.
genes like me logo Genes that share domains with TMEM2: view

Function for TMEM2 Gene

Molecular function for TMEM2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 6-7. {ECO:0000269 PubMed:28246172};
UniProtKB/Swiss-Prot CatalyticActivity:
Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate.
UniProtKB/Swiss-Prot Function:
Cell surface hyaluronidase that mediates the initial cleavage of extracellular high-molecular-weight hyaluronan into intermediate-size hyaluronan of approximately 5 kDa fragments (PubMed:28246172). Acts as a regulator of angiogenesis and heart morphogenesis by mediating degradation of extracellular hyaluronan, thereby regulating VEGF signaling (By similarity). Is very specific to hyaluronan; not able to cleave chondroitin sulfate or dermatan sulfate (PubMed:28246172).

Enzyme Numbers (IUBMB) for TMEM2 Gene

Phenotypes From GWAS Catalog for TMEM2 Gene

Gene Ontology (GO) - Molecular Function for TMEM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004415 hyalurononglucosaminidase activity IEA,IDA 28246172
GO:0005509 calcium ion binding IDA 28246172
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with TMEM2: view

Phenotypes for TMEM2 Gene

genes like me logo Genes that share phenotypes with TMEM2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM2

CRISPR Products

miRNA for TMEM2 Gene

miRTarBase miRNAs that target TMEM2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM2 Gene

Localization for TMEM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM2 Gene

Cell membrane; Single-pass type II 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 TMEM2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 4
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IDA 28246172
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA 10767548
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with TMEM2: view

Pathways & Interactions for TMEM2 Gene

SuperPathways for TMEM2 Gene

No Data Available

Interacting Proteins for TMEM2 Gene

Gene Ontology (GO) - Biological Process for TMEM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0007275 multicellular organism development IEA --
GO:0008152 metabolic process IEA --
GO:0030214 hyaluronan catabolic process IDA 28246172
GO:1903670 regulation of sprouting angiogenesis ISS --
genes like me logo Genes that share ontologies with TMEM2: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM2 Gene

Drugs & Compounds for TMEM2 Gene

No Compound Related Data Available

Transcripts for TMEM2 Gene

Unigene Clusters for TMEM2 Gene

Transmembrane protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM2 Gene

No ASD Table

Relevant External Links for TMEM2 Gene

GeneLoc Exon Structure for
TMEM2
ECgene alternative splicing isoforms for
TMEM2

Expression for TMEM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM2 Gene

This gene is overexpressed in Breast (30.2) and Nasal epithelium (25.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM2 Gene



Protein tissue co-expression partners for TMEM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM2 Gene:

TMEM2

SOURCE GeneReport for Unigene cluster for TMEM2 Gene:

Hs.494146

mRNA Expression by UniProt/SwissProt for TMEM2 Gene:

Q9UHN6-TMEM2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for TMEM2 Gene

  • Nervous system(4.2)
  • Intestine(2.4)
genes like me logo Genes that share expression patterns with TMEM2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM2 Gene

Orthologs for TMEM2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM2 33 34
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia TMEM2 33 34
  • 90.43 (n)
dog
(Canis familiaris)
Mammalia TMEM2 33 34
  • 89.97 (n)
mouse
(Mus musculus)
Mammalia Tmem2 33 16 34
  • 84.42 (n)
rat
(Rattus norvegicus)
Mammalia Tmem2 33
  • 84.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM2 34
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM2 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC427250 33
  • 72.9 (n)
TMEM2 34
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM2 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem2 33
  • 69.5 (n)
Str.19937 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23798 33
zebrafish
(Danio rerio)
Actinopterygii tmem2 33 34
  • 60.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3786 34
  • 6 (a)
OneToMany
Species where no ortholog for TMEM2 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM2 Gene

ENSEMBL:
Gene Tree for TMEM2 (if available)
TreeFam:
Gene Tree for TMEM2 (if available)

Paralogs for TMEM2 Gene

Paralogs for TMEM2 Gene

(1) SIMAP similar genes for TMEM2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with TMEM2: view

Variants for TMEM2 Gene

Sequence variations from dbSNP and Humsavar for TMEM2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs146439095 Uncertain significance 71,745,561(+) TATTG(A/T)CCCCA reference, missense
rs1000027792 -- 71,702,461(+) AATTA(C/T)GGCAC intron-variant
rs1000092378 -- 71,751,910(+) AAAGT(C/G)TAAAG intron-variant
rs1000113205 -- 71,707,444(+) TATTC(C/G)TCTTA intron-variant
rs1000128102 -- 71,708,056(+) GTGGC(A/G)GGCGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM2 Gene

Variant ID Type Subtype PubMed ID
esv2677935 CNV deletion 23128226
esv3544903 CNV deletion 23714750
nsv416322 CNV insertion 16902084
nsv507516 OTHER sequence alteration 20534489
nsv831617 CNV gain 17160897

Variation tolerance for TMEM2 Gene

Residual Variation Intolerance Score: 8.09% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.12; 97.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM2 Gene

Human Gene Mutation Database (HGMD)
TMEM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM2 Gene

Disorders for TMEM2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TMEM2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 7
  • autosomal recessive nonsyndromic deafness 7
benign familial infantile epilepsy
  • benign familial infantile convulsion
polycystic kidney disease 4, with or without hepatic disease
  • pkd3
- elite association - COSMIC cancer census association via MalaCards
Search TMEM2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TMEM2

Genetic Association Database (GAD)
TMEM2
Human Genome Epidemiology (HuGE) Navigator
TMEM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM2
genes like me logo Genes that share disorders with TMEM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM2 Gene

Publications for TMEM2 Gene

  1. A Mammalian Homolog of the Zebrafish Transmembrane Protein 2 (TMEM2) Is the Long-sought-after Cell Surface Hyaluronidase. (PMID: 28246172) Yamamoto H … Yamaguchi Y (The Journal of biological chemistry 2017) 2 3 4 60
  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 45 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. (PMID: 10767548) Scott DA … Smith RJ (Gene 2000) 3 4 60
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 60

Products for TMEM2 Gene

Sources for TMEM2 Gene

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