Gene Gene information from NCBI Gene database.
Entrez ID 830
Gene name Capping actin protein of muscle Z-line subunit alpha 2
Gene symbol CAPZA2
Synonyms (NCBI Gene)
CAPPA2CAPZ
Chromosome 7
Chromosome location 7q31.2
Summary The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin
miRNA miRNA information provided by mirtarbase database.
705
miRTarBase ID miRNA Experiments Reference
MIRT027222 hsa-miR-103a-3p Sequencing 20371350
MIRT031933 hsa-miR-16-5p Sequencing 20371350
MIRT646323 hsa-miR-6823-5p HITS-CLIP 19536157
MIRT646324 hsa-miR-1293 HITS-CLIP 19536157
MIRT646321 hsa-miR-4483 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 30361697
GO:0005576 Component Extracellular region TAS
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601571 1490 ENSG00000198898
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P47755
Protein name F-actin-capping protein subunit alpha-2 (CapZ alpha-2)
Protein function F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these pr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01267 F-actin_cap_A 17 284 F-actin capping protein alpha subunit Family
Sequence
Sequence length 286
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis
Motor proteins
Cytoskeleton in muscle cells
  MHC class II antigen presentation
HSP90 chaperone cycle for steroid hormone receptors (SHR)
COPI-mediated anterograde transport
COPI-independent Golgi-to-ER retrograde traffic
Advanced glycosylation endproduct receptor signaling
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
Intellectual disability Pathogenic rs1791701214 RCV001030430
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cardiomyopathies Cardiomyopathy Pubtator 33595762 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 32338762, 39908527 Associate
★☆☆☆☆
Found in Text Mining only
Glaucoma Open Angle Open angle glaucoma Pubtator 37940950 Associate
★☆☆☆☆
Found in Text Mining only
Heart Diseases Heart disease Pubtator 33595762 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 32338762 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders Language development disorders Pubtator 32338762 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 9402967
★☆☆☆☆
Found in Text Mining only
Seizures Seizures Pubtator 32338762, 39908527 Associate
★☆☆☆☆
Found in Text Mining only