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] See more...

Aliases for CAP2 Gene

Aliases for CAP2 Gene

  • Cyclase Associated Actin Cytoskeleton Regulatory Protein 2 2 3 5
  • Adenylyl Cyclase-Associated Protein 2 3 4
  • CAP 2 3 4
  • CAP, Adenylate Cyclase-Associated Protein, 2 (Yeast) 2
  • CAP, Adenylate Cyclase-Associated Protein, 2 3
  • 2810452G09Rik 3

External Ids for CAP2 Gene

Previous GeneCards Identifiers for CAP2 Gene

  • GC06P017451
  • GC06P017501
  • GC06P017340

Summaries for CAP2 Gene

Entrez Gene Summary for CAP2 Gene

  • 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]

GeneCards Summary for CAP2 Gene

CAP2 (Cyclase Associated Actin Cytoskeleton Regulatory Protein 2) is a Protein Coding gene. Diseases associated with CAP2 include Familial Isolated Dilated Cardiomyopathy. Among its related pathways are Signaling by Robo receptor and Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is CAP1.

UniProtKB/Swiss-Prot Summary for CAP2 Gene

Gene Wiki entry for CAP2 Gene

Additional gene information for CAP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CAP2 Gene

Genomics for CAP2 Gene

GeneHancer (GH) Regulatory Elements for CAP2 Gene


GeneHancers around CAP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CAP2

Top Transcription factor binding sites by QIAGEN in the CAP2 gene promoter:
  • ATF-2
  • E4BP4

Genomic Locations for CAP2 Gene

Genomic Locations for CAP2 Gene
chr6:17,393,216-17,557,792
(GRCh38/hg38)
Size:
164,577 bases
Orientation:
Plus strand
chr6:17,393,447-17,558,023
(GRCh37/hg19)
Size:
164,577 bases
Orientation:
Plus strand

Genomic View for CAP2 Gene

Genes around CAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAP2 Gene

Proteins for CAP2 Gene

  • Protein details for CAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40123-CAP2_HUMAN
    Recommended name:
    Adenylyl cyclase-associated protein 2
    Protein Accession:
    P40123
    Secondary Accessions:
    • B2R5Y3
    • B7Z1C4
    • B7Z214
    • Q6IAY2

    Protein attributes for CAP2 Gene

    Size:
    477 amino acids
    Molecular mass:
    52824 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAP2 Gene

Post-translational modifications for CAP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for CAP2 Gene

Domains & Families for CAP2 Gene

Gene Families for CAP2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for CAP2 Gene

Suggested Antigen Peptide Sequences for CAP2 Gene

GenScript: Design optimal peptide antigens:
  • Adenylyl cyclase-associated protein (B7Z1C4_HUMAN)
  • Adenylyl cyclase-associated protein (B7Z214_HUMAN)
  • Adenylyl cyclase-associated protein (B7Z385_HUMAN)
  • Adenylyl cyclase-associated protein 2 (CAP2_HUMAN)
  • Adenylyl cyclase-associated protein (E9PDI0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P40123

UniProtKB/Swiss-Prot:

CAP2_HUMAN :
  • Belongs to the CAP family.
Family:
  • Belongs to the CAP family.
genes like me logo Genes that share domains with CAP2: view

Function for CAP2 Gene

Molecular function for CAP2 Gene

UniProtKB/Swiss-Prot Function:
May have a regulatory bifunctional role.

Phenotypes From GWAS Catalog for CAP2 Gene

Gene Ontology (GO) - Molecular Function for CAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0008179 adenylate cyclase binding IBA 21873635
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with CAP2: view
genes like me logo Genes that share phenotypes with CAP2: view

Human Phenotype Ontology for CAP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAP2 Gene

MGI Knock Outs for CAP2:
  • Cap2 Cap2<tm1a(EUCOMM)Wtsi>
  • Cap2 Cap2<tm1e(EUCOMM)Wtsi>
  • Cap2 Cap2<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for CAP2 Gene

miRTarBase miRNAs that target CAP2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAP2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CAP2 Gene

Localization for CAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAP2 Gene

Cell membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAP2 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 3
nucleus 3
cytosol 3
extracellular 1
endoplasmic reticulum 1
mitochondrion 0
peroxisome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0030864 cortical actin cytoskeleton IBA 21873635
genes like me logo Genes that share ontologies with CAP2: view

Pathways & Interactions for CAP2 Gene

genes like me logo Genes that share pathways with CAP2: view

Pathways by source for CAP2 Gene

Gene Ontology (GO) - Biological Process for CAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IBA 21873635
GO:0007010 cytoskeleton organization IEA --
GO:0007163 establishment or maintenance of cell polarity TAS,IBA 21873635
GO:0007165 signal transduction TAS 7962207
GO:0007190 activation of adenylate cyclase activity TAS 7962207
genes like me logo Genes that share ontologies with CAP2: view

No data available for SIGNOR curated interactions for CAP2 Gene

Drugs & Compounds for CAP2 Gene

No Compound Related Data Available

Transcripts for CAP2 Gene

mRNA/cDNA for CAP2 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAP2

Alternative Splicing Database (ASD) splice patterns (SP) for CAP2 Gene

No ASD Table

Relevant External Links for CAP2 Gene

GeneLoc Exon Structure for
CAP2

Expression for CAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAP2 Gene

This gene is overexpressed in Muscle - Skeletal (x13.7).

Protein differential expression in normal tissues from HIPED for CAP2 Gene

This gene is overexpressed in Frontal cortex (12.8), Lung (11.4), and Fetal heart (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CAP2 Gene



Protein tissue co-expression partners for CAP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAP2

SOURCE GeneReport for Unigene cluster for CAP2 Gene:

Hs.132902

Evidence on tissue expression from TISSUES for CAP2 Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with CAP2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAP2 Gene

Orthologs for CAP2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAP2 31 30
  • 99.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CAP2 31 30
  • 89.01 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CAP2 31 30
  • 88.47 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CAP2 31
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cap2 17 31 30
  • 85.08 (n)
rat
(Rattus norvegicus)
Mammalia Cap2 30
  • 83.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CAP2 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAP2 31 30
  • 76.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAP2 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cap2 30
  • 70.45 (n)
zebrafish
(Danio rerio)
Actinopterygii cap2 31 30
  • 64.86 (n)
OneToOne
-- 30
fruit fly
(Drosophila melanogaster)
Insecta capt 31 32
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F41G4.2a 32
  • 46 (a)
cah-1 32
  • 46 (a)
cas-2 31
  • 35 (a)
ManyToMany
C18E3.6 32
  • 32 (a)
cas-1 31 32
  • 15 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR061W 30
  • 45.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRV2 33 31
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.162 31
  • 36 (a)
OneToMany
Species where no ortholog for CAP2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAP2 Gene

ENSEMBL:
Gene Tree for CAP2 (if available)
TreeFam:
Gene Tree for CAP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAP2: view image

Paralogs for CAP2 Gene

Paralogs for CAP2 Gene

(2) SIMAP similar genes for CAP2 Gene using alignment to 7 proteins:

  • CAP2_HUMAN
  • B7Z1C4_HUMAN
  • B7Z214_HUMAN
  • B7Z385_HUMAN
  • E9PDI2_HUMAN
  • F8WDB9_HUMAN
  • F8WEW0_HUMAN

Pseudogenes.org Pseudogenes for CAP2 Gene

genes like me logo Genes that share paralogs with CAP2: view

Variants for CAP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CAP2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs34206659 - p.Tyr316Cys
rs34620829 - p.Thr311Ala

Additional dbSNP identifiers (rs#s) for CAP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for CAP2 Gene

Variant ID Type Subtype PubMed ID
dgv1715e212 CNV gain 25503493
dgv3278n106 CNV deletion 24896259
dgv380e215 CNV deletion 23714750
dgv5921n100 CNV gain 25217958
dgv5922n100 CNV gain 25217958
esv1591451 CNV deletion 17803354
esv1751200 CNV deletion 17803354
esv2026108 CNV deletion 18987734
esv2337248 CNV deletion 18987734
esv2486925 CNV deletion 19546169
esv2519333 CNV deletion 19546169
esv2642821 CNV deletion 19546169
esv2662516 CNV deletion 23128226
esv2731631 CNV deletion 23290073
esv2731632 CNV deletion 23290073
esv28379 CNV loss 19812545
esv3426081 CNV insertion 20981092
esv3436619 CNV insertion 20981092
esv3608212 CNV loss 21293372
esv4873 CNV loss 18987735
esv8324 CNV loss 19470904
esv993176 CNV deletion 20482838
nsv1027813 CNV gain 25217958
nsv1072219 CNV deletion 25765185
nsv1114781 CNV deletion 24896259
nsv1147478 CNV deletion 26484159
nsv349497 CNV deletion 16902084
nsv472444 CNV novel sequence insertion 20440878
nsv516012 CNV gain+loss 19592680
nsv5214 CNV deletion 18451855
nsv601046 CNV gain 21841781
nsv823435 CNV loss 20364138
nsv957548 CNV deletion 24416366
nsv969351 CNV duplication 23825009

Variation tolerance for CAP2 Gene

Residual Variation Intolerance Score: 19.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.54; 64.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAP2 Gene

Disorders for CAP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CAP2 Gene - From: Orphanet

Disorder Aliases PubMed IDs
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search CAP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CAP2

genes like me logo Genes that share disorders with CAP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAP2 Gene

Publications for CAP2 Gene

  1. Comparison of human CAP and CAP2, homologs of the yeast adenylyl cyclase-associated proteins. (PMID: 7962207) Yu G … Young D (Journal of cell science 1994) 2 3 4 23 54
  2. Mammalian CAP interacts with CAP, CAP2, and actin. (PMID: 8761950) Hubberstey A … Young D (Journal of cellular biochemistry 1996) 2 3 23 54
  3. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 41 54
  4. Overexpression of cyclase-associated protein 2 in multistage hepatocarcinogenesis. (PMID: 17000669) Shibata R … Sakamoto M (Clinical cancer research : an official journal of the American Association for Cancer Research 2006) 3 23 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for CAP2 Gene

Sources for CAP2 Gene