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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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