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CAP2 cyclase associated actin cytoskeleton regulatory protein 2 [ Homo sapiens (human) ]

Gene ID: 10486, updated on 7-Jun-2020

Summary

Official Symbol
CAP2provided by HGNC
Official Full Name
cyclase associated actin cytoskeleton regulatory protein 2provided by HGNC
Primary source
HGNC:HGNC:20039
See related
Ensembl:ENSG00000112186 MIM:618385
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
Summary
This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 40.2), heart (RPKM 39.1) and 15 other tissues See more
Orthologs

Genomic context

See CAP2 in Genome Data Viewer
Location:
6p22.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (17393505..17557792)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (17393447..17558023)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NFE2L2 motif-containing MPRA enhancer 96/97 Neighboring gene esterase D/formylglutathione hydrolase pseudogene Neighboring gene uncharacterized LOC101928491 Neighboring gene ribosomal protein L7 pseudogene 26 Neighboring gene uncharacterized LOC102724591 Neighboring gene SUMO2 pseudogene 13

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?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin polymerization or depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activation of adenylate cyclase activity TAS
Traceable Author Statement
more info
PubMed 
cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment or maintenance of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of adenylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
adenylyl cyclase-associated protein 2
Names
2810452G09Rik
CAP 2
CAP, adenylate cyclase-associated protein, 2

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.

mRNA and Protein(s)

  1. NM_001363533.1NP_001350462.1  adenylyl cyclase-associated protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (3) has the same N-and C-termini but is shorter compared to variant 1.
    Source sequence(s)
    AL034372, AL138824
    Consensus CDS
    CCDS87368.1
    Related
    ENSP00000417705.1, ENST00000489374.5
    Conserved Domains (2) summary
    pfam01213
    Location:7185
    CAP_N; Adenylate cyclase associated (CAP) N terminal
    pfam08603
    Location:215363
    CAP_C; Adenylate cyclase associated (CAP) C terminal
  2. NM_001363534.1NP_001350463.1  adenylyl cyclase-associated protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N-and C-termini but is shorter compared to variant 1.
    Source sequence(s)
    AL034372, AL138824
    Consensus CDS
    CCDS87369.1
    Related
    ENSP00000368275.2, ENST00000378990.6
    Conserved Domains (2) summary
    pfam01213
    Location:7271
    CAP_N; Adenylate cyclase associated (CAP) N terminal
    pfam08603
    Location:301449
    CAP_C; Adenylate cyclase associated (CAP) C terminal
  3. NM_006366.3NP_006357.1  adenylyl cyclase-associated protein 2 isoform 1

    See identical proteins and their annotated locations for NP_006357.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AI928000, AL832154, BC008481, BF791244
    Consensus CDS
    CCDS4539.1
    UniProtKB/Swiss-Prot
    P40123
    UniProtKB/TrEMBL
    Q5JPJ8
    Related
    ENSP00000229922.2, ENST00000229922.7
    Conserved Domains (2) summary
    pfam01213
    Location:7297
    CAP_N; Adenylate cyclase associated (CAP) N terminal
    pfam08603
    Location:327475
    CAP_C; Adenylate cyclase associated (CAP) C terminal

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_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    17393505..17557792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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