ccm2 CCM2 scaffold protein [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: ccm2provided by ZNC
Official Full Name: CCM2 scaffold proteinprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040712-6
See related: Ensembl:ENSDARG00000013705 AllianceGenome:ZFIN:ZDB-GENE-040712-6
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: vtn; TUF2; zgc:110233
Summary: Acts upstream of or within several processes, including cell-cell junction assembly; circulatory system development; and heart contraction. Predicted to be located in cytoplasm. Is expressed in several structures, including cardinal system; heart; intermediate cell mass of mesoderm; liver; and ventricular zone. Human ortholog(s) of this gene implicated in cerebral cavernous malformation 2. Orthologous to human CCM2 (CCM2 scaffold protein). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 20

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	20	NC_007131.7 (18775670..18795048, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	20	NC_007131.6 (18847729..18895465, complement)

Chromosome 20 - NC_007131.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These findings suggest that CCM2L and CCM2 cooperate to regulate the activity of MEKK3.
Title: The cerebral cavernous malformation proteins CCM2L and CCM2 prevent the activation of the MAP kinase MEKK3.
Zebrafish embryos with the recessive lethal mutations santa (san) and valentine (vtn) do not thicken, but do add the proper number of cells to the myocardium.
Title: santa and valentine pattern concentric growth of cardiac myocardium in the zebrafish.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within anterior/posterior axis specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cardiac jelly development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell-cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart contraction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vasculogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within vasculogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within venous blood vessel morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within venous blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cerebral cavernous malformations protein 2 homolog

Names: cerebral cavernous malformation 2; malcavernin; valentine

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001002315.3 → NP_001002315.1 cerebral cavernous malformations protein 2 homolog

See identical proteins and their annotated locations for NP_001002315.1

Status: VALIDATED

Source sequence(s)

BX511009, CR388122

UniProtKB/Swiss-Prot

Q0Z802, Q568L2, Q6DRP4

Related

ENSDARP00000022543.8, ENSDART00000003834.10

Conserved Domains (2) summary

cd13166
Location:44 → 236

PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe

pfam16545
Location:296 → 386

CCM2_C; Cerebral cavernous malformation protein, harmonin-homology