Gene Gene information from NCBI Gene database.
Entrez ID 10486
Gene name Cyclase associated actin cytoskeleton regulatory protein 2
Gene symbol CAP2
Synonyms (NCBI Gene)
CMD2I
Chromosome 6
Chromosome location 6p22.3
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
miRNA miRNA information provided by mirtarbase database.
110
miRTarBase ID miRNA Experiments Reference
MIRT621365 hsa-miR-605-5p HITS-CLIP 23824327
MIRT621365 hsa-miR-605-5p HITS-CLIP 23824327
MIRT621365 hsa-miR-605-5p HITS-CLIP 23824327
MIRT621365 hsa-miR-605-5p HITS-CLIP 23824327
MIRT861801 hsa-miR-144 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IBA
GO:0003779 Function Actin binding IBA
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 25416956, 25910212, 28514442, 32296183, 33961781, 35271311
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618385 20039 ENSG00000112186
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P40123
Protein name Adenylyl cyclase-associated protein 2 (CAP 2)
Protein function Involved in the regulation of actin polymerization.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01213 CAP_N 5 64 Adenylate cyclase associated (CAP) N terminal Family
PF08603 CAP_C 321 475 Adenylate cyclase associated (CAP) C terminal Family
Sequence
MANMQGLVERLERAVSRLESLSAESHRPPGNCGEVNGVIAGVAPSVEAFDKLMDSMVAEF
LKNS
RILAGDVETHAEMVHSAFQAQRAFLLMASQYQQPHENDVAALLKPISEKIQEIQTF
RERNRGSNMFNHLSAVSESIPALGWIAVSPKPGPYVKEMNDAATFYTNRVLKDYKHSDLR
HVDWVKSYLNIWSELQAYIKEHHTTGLTWSKTGPVASTVSAFSVLSSGPGLPPPPPPLPP
PGPPPLFENEGKKEESSPSRSALFAQLNQGEAITKGLRHVTDDQKTYKNPSLRAQGGQTQ
SPTKSHTPSPTSPKSYPSQKHAPVLELEGKKWRVEYQEDRNDLVISETELKQVAYIFKCE
KSTIQIKGKVNSIIIDNCKKLGLVFDNVVGIVEVINSQDIQIQVMGRVPTISINKTEGCH
IYLSEDALDCEIVSAKSSEMNILIPQDGDYREFPIPEQFKTAWDGSKLITEPAEI
MA
Sequence length 477
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiomyopathy, dilated, 2I Pathogenic rs2481027322, rs764955583, rs781025932 RCV003319297
RCV003319298
RCV003319299
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOIMMUNE THROMBOCYTOPENIC PURPURA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAP2-associated dilated cardiomyopathy Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations