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CCM2 CCM2 scaffold protein [ Homo sapiens (human) ]

Gene ID: 83605, updated on 5-Aug-2018

Summary

Official Symbol
CCM2provided by HGNC
Official Full Name
CCM2 scaffold proteinprovided by HGNC
Primary source
HGNC:HGNC:21708
See related
Ensembl:ENSG00000136280 MIM:607929; Vega:OTTHUMG00000129246
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
OSM; C7orf22; PP10187
Summary
This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]
Expression
Ubiquitous expression in lymph node (RPKM 10.3), spleen (RPKM 8.5) and 25 other tissues See more
Orthologs

Genomic context

See CCM2 in Genome Data Viewer
Location:
7p13
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (44999746..45076470)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (45039345..45116069)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene myosin IG Neighboring gene uncharacterized LOC102723334 Neighboring gene small nucleolar RNA host gene 15 Neighboring gene small nucleolar RNA, H/ACA box 9 Neighboring gene NAC alpha domain containing Neighboring gene transforming growth factor beta regulator 4 Neighboring gene small nucleolar RNA, H/ACA box 5A

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4067, MGC4607, MGC74868

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood vessel endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction organization IEA
Inferred from Electronic Annotation
more info
 
endothelial cell development IEA
Inferred from Electronic Annotation
more info
 
endothelial tube morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
inner ear development IEA
Inferred from Electronic Annotation
more info
 
integrin-mediated signaling pathway TAS
Traceable Author Statement
more info
PubMed 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
pericardium development IEA
Inferred from Electronic Annotation
more info
 
stress-activated MAPK cascade TAS
Traceable Author Statement
more info
PubMed 
vasculogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
venous blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cerebral cavernous malformations 2 protein
Names
CCM2 scaffolding protein
cerebral cavernous malformation 2
malcavernin
osmosensing scaffold for MEKK3

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_016295.1 RefSeqGene

    Range
    4559..81283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_664

mRNA and Protein(s)

  1. NM_001029835.2NP_001025006.1  cerebral cavernous malformations 2 protein isoform 1

    See identical proteins and their annotated locations for NP_001025006.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI538498, AK098005, BC004903
    Consensus CDS
    CCDS34630.1
    UniProtKB/Swiss-Prot
    Q9BSQ5
    Related
    ENSP00000370503.3, ENST00000381112.7
    Conserved Domains (2) summary
    cd13166
    Location:64258
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:308398
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
  2. NM_001167934.1NP_001161406.1  cerebral cavernous malformations 2 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC004847, AC013416, AI538498
    Consensus CDS
    CCDS55109.1
    UniProtKB/Swiss-Prot
    Q9BSQ5
    Related
    ENSP00000444725.1, ENST00000541586.5
    Conserved Domains (2) summary
    cd13166
    Location:10179
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:229319
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
  3. NM_001167935.1NP_001161407.1  cerebral cavernous malformations 2 protein isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, and lacks two alternate in-frame exons in the central coding region, compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus and lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC004847, AC013416, AF370392, AI538498
    Consensus CDS
    CCDS55108.1
    UniProtKB/Swiss-Prot
    Q9BSQ5
    Related
    ENSP00000438035.1, ENST00000544363.5
    Conserved Domains (2) summary
    pfam16545
    Location:196286
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
    cl17171
    Location:43191
    PH-like; Pleckstrin homology-like domain
  4. NM_001363458.1NP_001350387.1  cerebral cavernous malformations 2 protein isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC013416, AF370392, AI538498, AK098005, BC004903, BI916251, HY347636
    Conserved Domains (2) summary
    cd13166
    Location:43237
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:328418
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
  5. NM_001363459.1NP_001350388.1  cerebral cavernous malformations 2 protein isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC013416, AF370392, AI538498, AK098005, BC004903, CV571060, HY347636
    Conserved Domains (2) summary
    cd13166
    Location:10179
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:270360
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
  6. NM_031443.3NP_113631.1  cerebral cavernous malformations 2 protein isoform 2

    See identical proteins and their annotated locations for NP_113631.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AF370392, AI538498, BC004903
    Consensus CDS
    CCDS5500.1
    UniProtKB/Swiss-Prot
    Q9BSQ5
    Related
    ENSP00000258781.6, OTTHUMP00000159554, ENST00000258781.10, OTTHUMT00000251348
    Conserved Domains (2) summary
    cd13166
    Location:43237
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:287377
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology

RNA

  1. NR_030770.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents use of an alternate promoter and 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks the start codon of variant 1 and it is not clear what, if any, protein would be expressed from this variant.
    Source sequence(s)
    AC004847, AC013416, AI538498, DA420491
    Related
    ENST00000461377.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    44999746..45076470
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515564.2XP_011513866.1  cerebral cavernous malformations 2 protein isoform X4

    Conserved Domains (2) summary
    cd13166
    Location:10179
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:270360
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
  2. XM_011515562.1XP_011513864.1  cerebral cavernous malformations 2 protein isoform X2

    Conserved Domains (2) summary
    cd13166
    Location:43237
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:328418
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
  3. XM_017012673.1XP_016868162.1  cerebral cavernous malformations 2 protein isoform X9

  4. XM_011515563.3XP_011513865.1  cerebral cavernous malformations 2 protein isoform X3

    Conserved Domains (2) summary
    cd13166
    Location:29200
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:291381
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
  5. XM_006715785.4XP_006715848.1  cerebral cavernous malformations 2 protein isoform X5

    Conserved Domains (2) summary
    cd13166
    Location:29200
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:250340
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
  6. XM_017012672.2XP_016868161.1  cerebral cavernous malformations 2 protein isoform X8

    UniProtKB/TrEMBL
    B7Z8D5
    Conserved Domains (1) summary
    cd13166
    Location:29200
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
  7. XM_006715786.3XP_006715849.1  cerebral cavernous malformations 2 protein isoform X6

    Related
    ENSP00000419474.1, OTTHUMP00000214273, ENST00000474617.1, OTTHUMT00000353689
    Conserved Domains (2) summary
    pfam16545
    Location:217307
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
    cl17171
    Location:64212
    PH-like; Pleckstrin homology-like domain
  8. XM_011515561.2XP_011513863.1  cerebral cavernous malformations 2 protein isoform X1

    Conserved Domains (2) summary
    cd13166
    Location:64258
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:349439
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
  9. XM_017012671.1XP_016868160.1  cerebral cavernous malformations 2 protein isoform X7

RNA

  1. XR_428088.3 RNA Sequence

    Related
    ENST00000488727.5, OTTHUMT00000353683
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