U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 23670, updated on 5-Feb-2024

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; AllianceGenome:HGNC:11869
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CEMIP2 in Genome Data Viewer
Location:
9q21.13
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (71683366..71769466, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (83833547..83919992, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (74298282..74383429, 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 H3K4me1 hESC enhancer GRCh37_chr9:74167128-74167628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:74167629-74168129 Neighboring gene ribosomal protein L35a pseudogene 21 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:74304891-74306090 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:74358750-74359614 Neighboring gene NANOG hESC enhancer GRCh37_chr9:74368830-74369517 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:74371765-74372408 Neighboring gene HNF1 motif-containing MPRA enhancer 224 Neighboring gene hESC enhancers GRCh37_chr9:74383087-74383768 and GRCh37_chr9:74383769-74384450 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:74408684-74409233 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:74409234-74409782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28454 Neighboring gene glucosamine-6-phosphate deaminase 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19945 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding HDA PubMed 
enables calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
NOT enables hyalurononglucosaminidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in angiogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in hyaluronan catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in extracellular exosome HDA PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
inactive cell surface hyaluronidase CEMIP2
Names
cell surface hyaluronidase
transmembrane protein 2
NP_001129292.1
NP_001336713.1
NP_037522.1
XP_005251926.1
XP_047279092.1
XP_047279093.1
XP_054218563.1
XP_054218564.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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  inactive cell surface hyaluronidase CEMIP2 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  inactive cell surface hyaluronidase CEMIP2 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  inactive cell surface hyaluronidase CEMIP2 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
    A6H8W9, B2RTQ6, Q5T838, Q5T839, Q5T840, Q5T841, Q8NBP6, Q9P2D5, Q9UHN6
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    71683366..71769466 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423136.1XP_047279092.1  inactive cell surface hyaluronidase CEMIP2 isoform X2

  2. XM_005251869.5XP_005251926.1  inactive cell surface hyaluronidase CEMIP2 isoform X1

    See identical proteins and their annotated locations for XP_005251926.1

    UniProtKB/Swiss-Prot
    A6H8W9, B2RTQ6, Q5T838, Q5T839, Q5T840, Q5T841, Q8NBP6, Q9P2D5, Q9UHN6
    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
  3. XM_047423137.1XP_047279093.1  inactive cell surface hyaluronidase CEMIP2 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    83833547..83919992 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362588.1XP_054218563.1  inactive cell surface hyaluronidase CEMIP2 isoform X1

    UniProtKB/Swiss-Prot
    A6H8W9, B2RTQ6, Q5T838, Q5T839, Q5T840, Q5T841, Q8NBP6, Q9P2D5, Q9UHN6
  2. XM_054362589.1XP_054218564.1  inactive cell surface hyaluronidase CEMIP2 isoform X2