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CEMIP2 cell migration inducing hyaluronidase 2 [ Homo sapiens (human) ]

Gene ID: 23670, updated on 3-May-2020

Summary

Official Symbol
CEMIP2provided by HGNC
Official Full Name
cell migration inducing hyaluronidase 2provided by HGNC
Primary source
HGNC:HGNC:11869
See related
Ensembl:ENSG00000135048 MIM:605835
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TMEM2
Summary
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]
Expression
Broad expression in placenta (RPKM 42.4), gall bladder (RPKM 25.8) and 23 other tissues See more
Orthologs

Genomic context

See CEMIP2 in Genome Data Viewer
Location:
9q21.13
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (71683366..71769532, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (74298282..74384373, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene transient receptor potential cation channel subfamily M member 3 Neighboring gene uncharacterized LOC107987079 Neighboring gene ribosomal protein L35a pseudogene 21 Neighboring gene HNF1 motif-containing MPRA enhancer 224 Neighboring gene glucosamine-6-phosphate deaminase 2 pseudogene Neighboring gene abhydrolase domain containing 17B, depalmitoylase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
hyalurononglucosaminidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
hyaluronan catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
cell surface hyaluronidase
Names
transmembrane protein 2
NP_001129292.1
NP_001336713.1
NP_037522.1
XP_005251926.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053053.1 RefSeqGene

    Range
    6020..91167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135820.2NP_001129292.1  cell surface hyaluronidase isoform b

    See identical proteins and their annotated locations for NP_001129292.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AB037833, AK075370, CA418327, DA865249
    Consensus CDS
    CCDS47979.1
    UniProtKB/Swiss-Prot
    Q9UHN6
    Related
    ENSP00000366266.5, ENST00000377066.9
    Conserved Domains (3) summary
    cd13938
    Location:220387
    PANDER_like_TMEM2; PANDER-like domain of the transmembrane protein TMEM2
    pfam10162
    Location:123244
    G8; G8 domain
    pfam15711
    Location:11811270
    ILEI; Interleukin-like EMT inducer
  2. NM_001349784.2NP_001336713.1  cell surface hyaluronidase isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, uses an alternate splice site, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    BC144510, CA418327, CR990222
    Conserved Domains (1) summary
    pfam15711
    Location:606690
    ILEI; Interleukin-like EMT inducer
  3. NM_013390.3NP_037522.1  cell surface hyaluronidase isoform a

    See identical proteins and their annotated locations for NP_037522.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB037833, AK075370, CA418327, DA865249
    Consensus CDS
    CCDS6638.1
    UniProtKB/Swiss-Prot
    Q9UHN6
    UniProtKB/TrEMBL
    A0A024R229
    Related
    ENSP00000366243.4, ENST00000377044.9
    Conserved Domains (3) summary
    cd13938
    Location:220387
    PANDER_like_TMEM2; PANDER-like domain of the transmembrane protein TMEM2
    pfam10162
    Location:123244
    G8; G8 domain
    pfam15711
    Location:12441333
    ILEI; Interleukin-like EMT inducer

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    71683366..71769532 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251869.4XP_005251926.1  cell surface hyaluronidase isoform X1

    See identical proteins and their annotated locations for XP_005251926.1

    UniProtKB/Swiss-Prot
    Q9UHN6
    UniProtKB/TrEMBL
    A0A024R229
    Conserved Domains (3) summary
    cd13938
    Location:220387
    PANDER_like_TMEM2; PANDER-like domain of the transmembrane protein TMEM2
    pfam10162
    Location:123244
    G8; G8 domain
    pfam15711
    Location:12441333
    ILEI; Interleukin-like EMT inducer
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