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CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 [ Homo sapiens (human) ]

Gene ID: 830, updated on 3-Nov-2024

Summary

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Official Symbol
CAPZA2provided by HGNC
Official Full Name
capping actin protein of muscle Z-line subunit alpha 2provided by HGNC
Primary source
HGNC:HGNC:1490
See related
Ensembl:ENSG00000198898 MIM:601571; AllianceGenome:HGNC:1490
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
CAPZ; CAPPA2
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 filaments at the barbed end. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in heart (RPKM 60.8), urinary bladder (RPKM 54.1) and 25 other tissues See more
Orthologs
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Genomic context

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See CAPZA2 in Genome Data Viewer
Location:
7q31.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (116862587..116922049)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118177775..118237215)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (116502641..116562103)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901824 Neighboring gene greater CFTR locus negative regulatory element CR6 Neighboring gene MET proto-oncogene, receptor tyrosine kinase Neighboring gene greater CFTR locus negative regulatory element CR8 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:116412324-116413523 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:116416081-116417280 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:116420832-116421760 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:116421761-116422688 Neighboring gene uncharacterized LOC124901731 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:116496945-116497602 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:116502260-116503022 Neighboring gene RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing pseudogene Neighboring gene uncharacterized LOC124901857 Neighboring gene greater CFTR locus negative regulatory element CR9 Neighboring gene Sharpr-MPRA regulatory region 2110 Neighboring gene uncharacterized LOC105375465 Neighboring gene CRISPRi-validated cis-regulatory element chr7.4218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18564 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:116593626-116594549 Neighboring gene RNA, 5S ribosomal pseudogene 239 Neighboring gene ST7 antisense RNA 1 Neighboring gene ST7 overlapping transcript 4 Neighboring gene suppression of tumorigenicity 7

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 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. Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review. Zhang XM, et al. J Hum Genet, 2024 May. PMID 38374166
  2. Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. Huang Y, et al. Hum Mol Genet, 2020 Jun 3. PMID 32338762, Free PMC Article
  3. Capping protein regulates endosomal trafficking by controlling F-actin density around endocytic vesicles and recruiting RAB5 effectors. Wang D, et al. Elife, 2021 Nov 19. PMID 34796874, Free PMC Article
  4. Sequence analysis and chromosomal localization of human Cap Z. Conserved residues within the actin-binding domain may link Cap Z to gelsolin/severin and profilin protein families. Barron-Casella EA, et al. J Biol Chem, 1995 Sep 15. PMID 7665558
  5. Molecular cloning and characterization of the human orthologue of male germ cell-specific actin capping protein alpha3 (cpalpha3). Miyagawa Y, et al. Mol Hum Reprod, 2002 Jun. PMID 12029070

See all (135) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review.
    Title: Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review.
  2. Capping protein regulates endosomal trafficking by controlling F-actin density around endocytic vesicles and recruiting RAB5 effectors.
    Title: Capping protein regulates endosomal trafficking by controlling F-actin density around endocytic vesicles and recruiting RAB5 effectors.
  3. Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.
    Title: Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in barbed-end actin filament capping IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein-containing complex assembly TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of F-actin capping protein complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in actin cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
located_in brush border IEA
Inferred from Electronic Annotation
more info
  
is_active_in cortical cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
F-actin-capping protein subunit alpha-2
Names
F-actin capping protein alpha-2 subunit
capZ alpha-2
capping actin protein of muscle Z-line alpha subunit 2
capping protein (actin filament) muscle Z-line, alpha 2
epididymis secretory sperm binding protein

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_006136.3 → NP_006127.1  F-actin-capping protein subunit alpha-2

    See identical proteins and their annotated locations for NP_006127.1

    Status: REVIEWED

    Source sequence(s)
    AC002543, BC005338, BI553815, BX386541, U03851
    Consensus CDS
    CCDS5768.1
    UniProtKB/Swiss-Prot
    B4DG50, P47755
    UniProtKB/TrEMBL
    A4D0V4, Q53GC7, Q53GE2
    Related
    ENSP00000354947.2, ENST00000361183.8
    Conserved Domains (1) summary
    pfam01267
    Location:17 → 283
    F-actin_cap_A; F-actin capping protein alpha subunit

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    116862587..116922049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    118177775..118237215
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P47755.3 GenPept UniProtKB/Swiss-Prot:P47755

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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