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 an... See more...

Aliases for CEMIP2 Gene

Aliases for CEMIP2 Gene

  • Cell Migration Inducing Hyaluronidase 2 2 3 5
  • Transmembrane Protein 2 2 3 4
  • Cell Surface Hyaluronidase 3 4
  • TMEM2 3 4
  • Cell Migration-Inducing Hyaluronidase 2 4
  • EC 3.2.1.35 4
  • KIAA1412 4
  • CEMIP2 5

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 Balantidiasis and Benign Familial Infantile Epilepsy. An important paralog of this gene is CEMIP.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CEMIP2 Gene

Genomics for CEMIP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 606.3 +50.4 50353 8.8 HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 REST TFE3 IKZF1 NFKBIZ CEMIP2 lnc-C9orf85-1 lnc-C9orf85-9 lnc-ABHD17B-2 lnc-ABHD17B-6 TRPM3
GH09J071817 Enhancer 0.6 Ensembl ENCODE 600.7 -0.7 -711 0.8 POLR2A SPI1 ZFP3 SMARCA4 HLF CEMIP2 ABHD17B C9orf85 RF00017-7623 L13304-038
GH09J071780 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 19.3 +34.0 33978 4.1 SP1 CREB1 GATAD2A KDM1A BACH1 TARDBP ZHX2 FOXA1 PKNOX1 RAD21 CEMIP2 L13304-038 lnc-C9orf85-9 TRPM3
GH09J071791 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 14.9 +21.8 21810 6.1 TEAD4 RFX1 IKZF2 PKNOX1 SOX13 ETS1 ARID3A SP1 RUNX3 ZBTB26 CEMIP2 ABHD17B C9orf85 ENSG00000271166 L13304-038 LOC100420790 lnc-C9orf85-2 TRPM3
GH09J072041 Enhancer 1.1 FANTOM5 Ensembl ENCODE 13.4 -226.8 -226797 4.8 REST GABPA SP1 CEBPA CEBPB ESR1 FOXA2 CHD2 ATF3 YY1 CEMIP2 LINC01504 ZFAND5 piR-40467 ENSG00000286823 LOC101927108 C9orf57 RF00017-7624 ABHD17B L13304-038
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEMIP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEMIP2

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)
Size:
133,325 bases
Orientation:
Minus strand

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-CEIP2_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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC11574.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CEMIP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEMIP2 Gene

Post-translational modifications for CEMIP2 Gene

  • Glycosylation at Asn248, Asn292, Asn914, Asn980, Asn1005, and Asn1234
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CEIP2_HUMAN (1851)

No data available for DME Specific Peptides for CEMIP2 Gene

Domains & Families for CEMIP2 Gene

Gene Families for CEMIP2 Gene

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

Protein Domains for CEMIP2 Gene

Suggested Antigen Peptide Sequences for CEMIP2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55828, highly similar to Homo sapiens transmembrane protein 2 (TMEM2), mRNA (B4E1B9_HUMAN)
  • Transmembrane protein 2 (TMEM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UHN6

UniProtKB/Swiss-Prot:

CEIP2_HUMAN :
  • Belongs to the CEMIP family.
Family:
  • Belongs to the CEMIP 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:
Reaction=Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate.; EC=3.2.1.35; Evidence={ECO:0000305|PubMed:28246172};.
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 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 HDA 25468996
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

miRTarBase miRNAs that target CEMIP2

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 4
cytosol 3
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • 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 IEA,IDA --
GO:0005887 integral component of plasma membrane IDA 28246172
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS 10767548
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with CEMIP2: view

Pathways & Interactions for CEMIP2 Gene

PathCards logo

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

mRNA/cDNA for CEMIP2 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

No ASD Table

Relevant External Links for CEMIP2 Gene

GeneLoc Exon Structure for
CEMIP2

Expression for CEMIP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEMIP2

mRNA Expression by UniProt/SwissProt for CEMIP2 Gene:

Q9UHN6-CEIP2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for CEMIP2 Gene

  • Nervous system(4.4)
  • Intestine(2.7)
  • Lung(2.3)
  • Liver(2.2)
  • Spleen(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with CEMIP2: view

Primer Products

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 30 31
  • 99.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMEM2 30 31
  • 90.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMEM2 30 31
  • 89.97 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmem2 30 31
  • 84.42 (n)
OneToOne
Cemip2 17
Rat
(Rattus norvegicus)
Mammalia Tmem2 30
  • 84.4 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM2 31
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMEM2 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC427250 30
  • 72.9 (n)
TMEM2 31
  • 71 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMEM2 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmem2 30
  • 69.5 (n)
Str.19937 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.23798 30
Zebrafish
(Danio rerio)
Actinopterygii tmem2 30 31
  • 60.17 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3786 31
  • 6 (a)
OneToMany
Species where no ortholog for CEMIP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEMIP2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs146439095 Uncertain Significance: not specified 71,745,561(-) T/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
rs25689 -. -. - p.Arg291Hisp.Arg291Leup.Arg291Pro
rs36080695 Benign: not specified 71,685,395(-) T/TA INTRON_VARIANT
rs17057133 - p.Ile1010Val
rs17475375 - p.Gly1280Asp

Additional dbSNP identifiers (rs#s) for CEMIP2 Gene

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

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

Disorder Aliases PubMed IDs
balantidiasis
  • b coli infection
benign familial infantile epilepsy
  • benign familial infantile convulsion
- elite association - COSMIC cancer census association via MalaCards
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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  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
  5. FAM105A/OTULINL Is a Pseudodeubiquitinase of the OTU-Class that Localizes to the ER Membrane. (PMID: 31056421) Ceccarelli DF … Sicheri F (Structure (London, England : 1993) 2019) 3

Products for CEMIP2 Gene

Sources for CEMIP2 Gene