ANXA13 annexin A13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANXA13provided by HGNC
Official Full Name: annexin A13provided by HGNC
Primary source: HGNC:HGNC:536
See related: Ensembl:ENSG00000104537 MIM:602573; AllianceGenome:HGNC:536
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: mouse all
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Genomic context

Location:: 8q24.13

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (123680794..123737393, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (124813022..124869625, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (124693034..124749633, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Intracellular Transport of Ribosome-Inactivating Proteins Depends on Annexin 13.
Title: Intracellular Transport of Ribosome-Inactivating Proteins Depends on Annexin 13.
a mechanism for how the association of the ANX A13a isoform with the membrane is regulated
Title: An alternative N-terminal fold of the intestine-specific annexin A13a induces dimerization and regulates membrane-binding.
ANXA13 is associated with colorectal cancer cell invasion in vitro, and with lymph node metastasis and poor survival in colorectal cancer patients
Title: Annexin A13 promotes tumor cell invasion in vitro and is associated with metastasis in human colorectal cancer.
High ANXA13 expression is associated with Refractory Lupus Nephritis.
Title: Biomarkers for Refractory Lupus Nephritis: A Microarray Study of Kidney Tissue.
Ectopic overexpression of Annexin A13 was likewise sufficient to sensitize malignant breast cancer cells to treatment with Rapamycin.
Title: Identification of annexin A13 as a regulator of chemotherapy resistance using random homozygous gene perturbation.
The unique, conserved aspects of annexin A13 primary structure, gene organization, and genetic maps identify it as the probable common ancestor of all vertebrate annexins.
Title: Comparative genetics and evolution of annexin A13 as the founder gene of vertebrate annexins.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-68785 (e-PCR)
- UniSTS:100683

NoName (e-PCR)
- UniSTS:494738

D8S2044 (e-PCR)
- UniSTS:23523

SHGC-104642 (e-PCR)
- UniSTS:168953

D8S1979 (e-PCR)
- UniSTS:34556

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium-dependent phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium-dependent phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
NOT enables phosphatidylcholine binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylglycerol binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylserine binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylserine binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of Golgi to plasma membrane protein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of Golgi to plasma membrane protein transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in exocytic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: annexin A13

Names: annexin XIII; annexin, intestine-specific; annexin-13; intestine-specific annexin

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)

NM_001003954.3 → NP_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/TrEMBL

A8K2L6

Related

ENSP00000262219.6, ENST00000262219.10

Conserved Domains (1) summary

pfam00191
Location:290 → 355

Annexin; Annexin
NM_004306.4 → NP_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, Q9BQR5

UniProtKB/TrEMBL

Q53FB5

Related

ENSP00000390809.1, ENST00000419625.6

Conserved Domains (1) summary

pfam00191
Location:249 → 314

Annexin; Annexin