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ANXA13 annexin A13 [ Homo sapiens (human) ]

Gene ID: 312, updated on 1-Jun-2020

Summary

Official Symbol
ANXA13provided by HGNC
Official Full Name
annexin A13provided by HGNC
Primary source
HGNC:HGNC:536
See related
Ensembl:ENSG00000104537 MIM:602573
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
ISA; ANX13
Summary
This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Biased expression in duodenum (RPKM 128.9), small intestine (RPKM 99.0) and 3 other tissues See more
Orthologs

Genomic context

See ANXA13 in Genome Data Viewer
Location:
8q24.13
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (123680794..123737393, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124693034..124749647, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375738 Neighboring gene kelch like family member 38 Neighboring gene uncharacterized LOC105375739 Neighboring gene family with sequence similarity 91 member A1 Neighboring gene fer-1 like family member 6 Neighboring gene FER1L6 antisense RNA 1

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?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
NHGRI GWA Catalog
Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC150460

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium-dependent phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylglycerol binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylserine binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular space HDA PubMed 
extrinsic component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
annexin A13
Names
annexin XIII
annexin, intestine-specific
annexin-13
intestine-specific annexin

NCBI Reference Sequences (RefSeq)

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_001003954.3NP_001003954.1  annexin A13 isoform b

    See identical proteins and their annotated locations for NP_001003954.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional segment in the coding region, compared to variant 1. The resulting isoform (b) is longer, compared to isoform a.
    Source sequence(s)
    AC011134, AC135166
    Consensus CDS
    CCDS34939.1
    UniProtKB/Swiss-Prot
    P27216
    UniProtKB/TrEMBL
    Q53FB5
    Related
    ENSP00000262219.6, ENST00000262219.10
    Conserved Domains (1) summary
    pfam00191
    Location:290355
    Annexin; Annexin
  2. NM_004306.4NP_004297.2  annexin A13 isoform a

    See identical proteins and their annotated locations for NP_004297.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript, and encodes the shorter isoform (a).
    Source sequence(s)
    AC011134, AC135166
    Consensus CDS
    CCDS47917.1
    UniProtKB/Swiss-Prot
    P27216
    UniProtKB/TrEMBL
    Q53FB5
    Related
    ENSP00000390809.1, ENST00000419625.6
    Conserved Domains (1) summary
    pfam00191
    Location:249314
    Annexin; Annexin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    123680794..123737393 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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