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Aliases for CEMIP2 Gene

Aliases for CEMIP2 Gene

  • Cell Migration Inducing Hyaluronidase 2 2 3
  • Transmembrane Protein 2 2 3 4 5
  • TMEM2 3 5
  • Cell Surface Hyaluronidase 3
  • EC 3.2.1.35 4
  • KIAA1412 4

External Ids for CEMIP2 Gene

Previous HGNC Symbols for CEMIP2 Gene

  • TMEM2

Summaries for CEMIP2 Gene

Entrez Gene Summary for CEMIP2 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 CEMIP2 Gene

CEMIP2 (Cell Migration Inducing Hyaluronidase 2) is a Protein Coding gene. Diseases associated with CEMIP2 include Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease. An important paralog of this gene is CEMIP.

UniProtKB/Swiss-Prot for CEMIP2 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 CEMIP2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEMIP2 Gene

Genomics for CEMIP2 Gene

GeneHancer (GH) Regulatory Elements for CEMIP2 Gene

Promoters and enhancers for CEMIP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J071761 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 656.2 +50.4 50353 8.8 PKNOX1 FOXA2 ARID4B SIN3A ZNF2 YY1 POLR2B ZNF143 FOS SP3 CEMIP2 LOC100420790 GC09P071678
GH09J071817 Enhancer 0.4 ENCODE 650.7 -0.6 -572 0.4 POLR2A HLF CEMIP2 C9orf85 ABHD17B GC09M071903 ENSG00000200922
GH09J071780 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19.3 +34.0 33978 4.1 PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A FOS SP5 SREBF1 MXD3 CEMIP2 LOC100420790 GC09P071678
GH09J071791 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 14.9 +21.8 21810 6.1 PKNOX1 FOXA2 BATF ETS1 YY1 TEAD3 NFATC1 FOSL2 ETV6 IKZF2 CEMIP2 ABHD17B C9orf85 LOC100420790 GC09P071678
GH09J072041 Enhancer 1.2 FANTOM5 Ensembl ENCODE 13.4 -226.8 -226797 4.8 CTCF FOXA2 TAF1 MAX ZNF644 ZNF48 RAD21 YY1 POLR2A EGR1 CEMIP2 LINC01504 ZFAND5 GC09M072053 GC09P072037 PIR33466 LOC101927108
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CEMIP2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CEMIP2 Gene

Genomic Locations for CEMIP2 Gene
chr9:71,683,366-71,816,690
(GRCh38/hg38)
Size:
133,325 bases
Orientation:
Minus strand
chr9:74,298,282-74,431,606
(GRCh37/hg19)

Genomic View for CEMIP2 Gene

Genes around CEMIP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEMIP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEMIP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEMIP2 Gene

Proteins for CEMIP2 Gene

  • Protein details for CEMIP2 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 CEMIP2 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 CEMIP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEMIP2 Gene

Post-translational modifications for CEMIP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CEMIP2 Gene

Domains & Families for CEMIP2 Gene

Gene Families for CEMIP2 Gene

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

Protein Domains for CEMIP2 Gene

Suggested Antigen Peptide Sequences for CEMIP2 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 CEMIP2: view

Function for CEMIP2 Gene

Molecular function for CEMIP2 Gene

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).
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 BiophysicochemicalProperties:
pH dependence: Optimum pH is 6-7. {ECO:0000269 PubMed:28246172};

Enzyme Numbers (IUBMB) for CEMIP2 Gene

Phenotypes From GWAS Catalog for CEMIP2 Gene

Gene Ontology (GO) - Molecular Function for CEMIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004415 hyalurononglucosaminidase activity IDA,IEA 28246172
GO:0005509 calcium ion binding IDA 28246172
GO:0005540 hyaluronic acid binding IBA --
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with CEMIP2: view
genes like me logo Genes that share phenotypes with CEMIP2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CEMIP2

miRNA for CEMIP2 Gene

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEMIP2 Gene

Localization for CEMIP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEMIP2 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 CEMIP2 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 CEMIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA,IEA --
GO:0005887 integral component of plasma membrane IDA 28246172
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS 10767548
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with CEMIP2: view

Pathways & Interactions for CEMIP2 Gene

SuperPathways for CEMIP2 Gene

No Data Available

Interacting Proteins for CEMIP2 Gene

Gene Ontology (GO) - Biological Process for CEMIP2 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 CEMIP2: view

No data available for Pathways by source and SIGNOR curated interactions for CEMIP2 Gene

Drugs & Compounds for CEMIP2 Gene

No Compound Related Data Available

Transcripts for CEMIP2 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEMIP2 Gene

No ASD Table

Relevant External Links for CEMIP2 Gene

GeneLoc Exon Structure for
CEMIP2
ECgene alternative splicing isoforms for
CEMIP2

Expression for CEMIP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CEMIP2 Gene:

CEMIP2

mRNA Expression by UniProt/SwissProt for CEMIP2 Gene:

Q9UHN6-TMEM2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for CEMIP2 Gene

  • Nervous system(4.2)
  • Intestine(2.4)
genes like me logo Genes that share expression patterns with CEMIP2: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEMIP2 Gene

Orthologs for CEMIP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEMIP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM2 34 33
  • 99.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM2 34 33
  • 90.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM2 34 33
  • 89.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem2 16 34 33
  • 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 34 33
  • 60.17 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3786 34
  • 6 (a)
OneToMany
Species where no ortholog for CEMIP2 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 CEMIP2 Gene

ENSEMBL:
Gene Tree for CEMIP2 (if available)
TreeFam:
Gene Tree for CEMIP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEMIP2: view image

Paralogs for CEMIP2 Gene

Paralogs for CEMIP2 Gene

genes like me logo Genes that share paralogs with CEMIP2: view

Variants for CEMIP2 Gene

Sequence variations from dbSNP and Humsavar for CEMIP2 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs146439095 uncertain-significance, not specified 71,745,561(-) T/A/C coding_sequence_variant, missense_variant
rs36080695 benign, not specified 71,685,396(-) AAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAA intron_variant
rs1000027792 -- 71,702,461(-) T/C intron_variant
rs1000092378 -- 71,751,910(-) C/G intron_variant
rs1000113205 -- 71,707,444(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CEMIP2 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 CEMIP2 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)

Additional Variant Information for CEMIP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEMIP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEMIP2 Gene

Disorders for CEMIP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CEMIP2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CEMIP2

genes like me logo Genes that share disorders with CEMIP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEMIP2 Gene

Publications for CEMIP2 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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 58
  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 58
  5. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 58

Products for CEMIP2 Gene

Sources for CEMIP2 Gene

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