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

Gene ID: 10486, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:20039
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
CMD2I
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
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Genomic context

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See CAP2 in Genome Data Viewer
Location:
6p22.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (17393595..17557780)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (17265693..17429911)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (17393826..17558011)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:17311541-17312740 Neighboring gene RNA binding motif protein 24 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:17341060-17342259 Neighboring gene ESD pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 1209 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. CAP2 contributes to Parkinson's disease diagnosed by neutrophil extracellular trap-related immune activity. Li X, et al. Front Immunol, 2024. PMID 38846945, Free PMC Article
  2. Overexpression of cyclase-associated protein 2 in multistage hepatocarcinogenesis. Shibata R, et al. Clin Cancer Res, 2006 Sep 15. PMID 17000669
  3. An association study of cyclase-associated protein 2 and frailty. Pelucchi S, et al. Aging Cell, 2023 Sep. PMID 37537790, Free PMC Article
  4. Overexpression of adenylate cyclase-associated protein 2 is a novel prognostic marker in malignant melanoma. Masugi Y, et al. Pathol Int, 2015 Dec. PMID 26374196
  5. Expression status of cyclase‑associated protein 2 as a prognostic marker for human breast cancer. Xu L, et al. Oncol Rep, 2016 Oct. PMID 27573674

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CAP2 contributes to Parkinson's disease diagnosed by neutrophil extracellular trap-related immune activity.
    Title: CAP2 contributes to Parkinson's disease diagnosed by neutrophil extracellular trap-related immune activity.
  2. An association study of cyclase-associated protein 2 and frailty.
    Title: An association study of cyclase-associated protein 2 and frailty.
  3. Analysis of mRNA and Protein Levels of CAP2, DLG1 and ADAM10 Genes in Post-Mortem Brain of Schizophrenia, Parkinson's and Alzheimer's Disease Patients.
    Title: Analysis of mRNA and Protein Levels of CAP2, DLG1 and ADAM10 Genes in Post-Mortem Brain of Schizophrenia, Parkinson's and Alzheimer's Disease Patients.
  4. Endoplasmic Reticulum Stress Induces CAP2 Expression Promoting Epithelial-Mesenchymal Transition in Liver Cancer Cells.
    Title: Endoplasmic Reticulum Stress Induces CAP2 Expression Promoting Epithelial-Mesenchymal Transition in Liver Cancer Cells.
  5. CAP2 is a Valuable Biomarker for Diagnosis and Prognostic in Patients with Gastric Cancer.
    Title: CAP2 is a Valuable Biomarker for Diagnosis and Prognostic in Patients with Gastric Cancer.
  6. CAP2 expression in ovarian cancer is an independent prognostic factor for recurrence-free survival.
    Title: Upregulation of cyclase-associated actin cytoskeleton regulatory protein 2 in epithelial ovarian cancer correlates with aggressive histologic types and worse outcomes.
  7. CAP2 joins other regulators of actin dynamics demonstrated to cause human genetic diseases. Our study is the first to demonstrate a mutation in CAP2 in human and a direct role for mutated CAP2 and perturbation of actin dynamics in the pathogenesis of DCM and possibly also conduction abnormalities in humans.
    Title: CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy.
  8. Study used lysine-to-glutamine mutations to map the relevant lysines on actin for INF2 regulation. K50Q- and K61Q-actin, when bound to CAP2, inhibit full-length INF2 but not INF2 lacking inhibitory domain (DID). CAP WH2 domain binds INF2-DID with submicromolar affinity but has weak affinity for actin monomers, while INF2-C-terminal diaphanous autoregulatory domain binds CAP/K50Q-actin 5-fold better than CAP/WT-actin.
    Title: Regulation of INF2-mediated actin polymerization through site-specific lysine acetylation of actin itself.
  9. CAP2 is highly expressed in gastric cancer tissues in close relation with the tumor progression. CAP2 is an independent risk factor for 5-year survival rate after radical gastrectomy for gastric cancer.
    Title: [Association of adenylate cyclase-associated protein 2 expression with histopathology and long-term prognosis of gastric cancer].
  10. CAP2 overexpression is a novel prognostic marker in malignant melanoma. CAP2 expression seems to increase stepwise during tumor progression, suggesting the involvement of CAP2 in the aggressive behavior of malignant melanoma.
    Title: Overexpression of adenylate cyclase-associated protein 2 is a novel prognostic marker in malignant melanoma.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cardiomyopathy, dilated, 2I
MedGen: C5830685 OMIM: 620462 GeneReviews: Not available
not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables adenylate cyclase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in activation of adenylate cyclase activity TAS
Traceable Author Statement
more info
 PubMed 
involved_in cAMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in establishment or maintenance of cell polarity TAS
Traceable Author Statement
more info
 PubMed 
involved_in presynaptic actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of modification of postsynaptic actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
  

General protein information

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

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)

  1. NM_001363533.2 → NP_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
    UniProtKB/TrEMBL
    B7Z385, Q5JPJ8
    Related
    ENSP00000417705.1, ENST00000489374.5
    Conserved Domains (2) summary
    pfam01213
    Location:7 → 185
    CAP_N; Adenylate cyclase associated (CAP) N terminal
    pfam08603
    Location:215 → 363
    CAP_C; Adenylate cyclase associated (CAP) C terminal

  2. NM_001363534.2 → NP_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
    UniProtKB/TrEMBL
    B7Z4M3, E9PDI2
    Related
    ENSP00000368275.2, ENST00000378990.6
    Conserved Domains (2) summary
    pfam01213
    Location:7 → 271
    CAP_N; Adenylate cyclase associated (CAP) N terminal
    pfam08603
    Location:301 → 449
    CAP_C; Adenylate cyclase associated (CAP) C terminal

  3. NM_006366.3 → NP_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
    B2R5Y3, B7Z1C4, B7Z214, P40123, Q6IAY2
    UniProtKB/TrEMBL
    B7Z4M3
    Related
    ENSP00000229922.2, ENST00000229922.7
    Conserved Domains (2) summary
    pfam01213
    Location:7 → 297
    CAP_N; Adenylate cyclase associated (CAP) N terminal
    pfam08603
    Location:327 → 475
    CAP_C; Adenylate cyclase associated (CAP) C terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    17393595..17557780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    17265693..17429911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P40123.1 GenPept UniProtKB/Swiss-Prot:P40123

Gene LinkOut

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