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XIRP2 xin actin binding repeat containing 2 [ Homo sapiens (human) ]

Gene ID: 129446, updated on 22-Aug-2021

Summary

Official Symbol
XIRP2provided by HGNC
Official Full Name
xin actin binding repeat containing 2provided by HGNC
Primary source
HGNC:HGNC:14303
See related
Ensembl:ENSG00000163092 MIM:609778
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMYA3
Expression
Biased expression in heart (RPKM 30.7) and prostate (RPKM 5.9) See more
Orthologs
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Genomic context

See XIRP2 in Genome Data Viewer
Location:
2q24.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (166888480..167259753)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (167744990..168116263)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene sodium voltage-gated channel alpha subunit 7 Neighboring gene uncharacterized LOC107985958 Neighboring gene XIRP2 antisense RNA 1 Neighboring gene beta-1,3-galactosyltransferase 1 Neighboring gene RNA, U7 small nuclear 148 pseudogene Neighboring gene CTAGE family member 14, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39111, FLJ40200, DKFZp451G055, DKFZp779G1747

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables actin filament binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables alpha-actinin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in biological_process ND
No biological Data available
more info
 
involved_in cardiac muscle tissue morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-cell junction organization IEA
Inferred from Electronic Annotation
more info
 
involved_in ventricular septum development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Z disc IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with focal adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
colocalizes_with stress fiber IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with stress fiber IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
xin actin-binding repeat-containing protein 2
Names
beta-xin
cardiomyopathy associated 3
cardiomyopathy-associated protein 3
myomaxin
xeplin
xin repeat protein 2

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_001079810.4NP_001073278.1  xin actin-binding repeat-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001073278.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks the biggest exon in the CDS, as compared to variant 1. The resulting isoform (2) has a much shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AA665183, AC092601, AK097519, EF119720
    Consensus CDS
    CCDS42768.1
    UniProtKB/Swiss-Prot
    A4UGR9
    Related
    ENSP00000386454.1, ENST00000409043.5
    Conserved Domains (1) summary
    cd09442
    Location:402454
    LIM_Eplin_like; The Lim domain of Epithelial Protein Lost in Neoplasm (Eplin) like proteins
  2. NM_001199143.2NP_001186072.1  xin actin-binding repeat-containing protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001186072.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an additional in-frame exon and lacks the biggest exon in the CDS, as compared to variant 1. The resulting isoform (3) has an additional segment and a much shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AA665183, AC092601, AK097519, EF119722
    Consensus CDS
    CCDS56143.1
    UniProtKB/Swiss-Prot
    A4UGR9
    Related
    ENSP00000386619.1, ENST00000409728.5
    Conserved Domains (1) summary
    cd09442
    Location:435487
    LIM_Eplin_like; The Lim domain of Epithelial Protein Lost in Neoplasm (Eplin) like proteins
  3. NM_001199144.2NP_001186073.1  xin actin-binding repeat-containing protein 2 isoform 4

    See identical proteins and their annotated locations for NP_001186073.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks a few of exons from the 5' end and contains an alternate 5' exon, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (4) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AL832011, EF119711
    Consensus CDS
    CCDS56144.1
    UniProtKB/Swiss-Prot
    A4UGR9
    Related
    ENSP00000387255.1, ENST00000409273.6
    Conserved Domains (1) summary
    pfam08043
    Location:868881
    Xin; Xin repeat
  4. NM_001199145.2NP_001186074.1  xin actin-binding repeat-containing protein 2 isoform 5

    See identical proteins and their annotated locations for NP_001186074.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks a few of exons from the 5' end and the biggest exon in the CDS, and contains an alternate 5' exon, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (5) has a shorter N-terminus, and a much shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AL832011, EF119717
    Consensus CDS
    CCDS56145.1
    UniProtKB/Swiss-Prot
    A4UGR9
    Related
    ENSP00000386981.1, ENST00000409605.1
    Conserved Domains (1) summary
    cd09442
    Location:180232
    LIM_Eplin_like; The Lim domain of Epithelial Protein Lost in Neoplasm (Eplin) like proteins
  5. NM_152381.6NP_689594.4  xin actin-binding repeat-containing protein 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC092601, AC093684, AC108494
    Consensus CDS
    CCDS42769.1
    UniProtKB/Swiss-Prot
    A4UGR9
    Related
    ENSP00000386840.2, ENST00000409195.6
    Conserved Domains (1) summary
    pfam08043
    Location:10901103
    Xin; Xin repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    166888480..167259753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003309.1XP_016858798.1  xin actin-binding repeat-containing protein 2 isoform X1

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