ANXA8 annexin A8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANXA8provided by HGNC
Official Full Name: annexin A8provided by HGNC
Primary source: HGNC:HGNC:546
See related: Ensembl:ENSG00000265190 MIM:602396; AllianceGenome:HGNC:546
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: ANX8; CH17-360D5.2
Summary: This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Jul 2008]
Annotation information: Note: There are multiple copies of ANXA8-like sequences on human chromosome 10q11. In June, 2007, the locations were re-named to correspond to the order defined by the Human Gene Nomenclature Committee (HGNC). [22 Jun 2007]
Expression: Biased expression in skin (RPKM 96.8), esophagus (RPKM 57.8) and 3 other tissues See more
Orthologs: all
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Genomic context

Location:: 10q11.22

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (47467993..47991796, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (48359294..48840973, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (48255247..48271369)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Potential prognostic and therapeutic value of ANXA8 in renal cell carcinoma: based on the comprehensive analysis of annexins family.
Title: Potential prognostic and therapeutic value of ANXA8 in renal cell carcinoma: based on the comprehensive analysis of annexins family.
[ANXA8 Regulates Proliferation of Human Non-Small Lung Cancer Cells A549 via EGFR-AKT-mTOR Signaling Pathway].
Title: [ANXA8 Regulates Proliferation of Human Non-Small Lung Cancer Cells A549 via EGFR-AKT-mTOR Signaling Pathway].
ANXA8 was significantly highly expressed in ovarian cancer, and high ANXA8 expression was significantly correlated with poor prognosis.
Title: Annexin A8 can serve as potential prognostic biomarker and therapeutic target for ovarian cancer: based on the comprehensive analysis of Annexins.
Data show that down-regulation of AnxA8 is both necessary and sufficient for neuronal trans-differentiation of retinal pigment epithelial (RPE) cells and reveal an essential role for AnxA8 as a key regulator of RPE phenotype.
Title: Regulation of retinal pigment epithelial cell phenotype by Annexin A8.
These findings identify Anxa8 as a regulator of late endosomes/lysosomes cholesterol balance.
Title: Cooperative binding promotes demand-driven recruitment of AnxA8 to cholesterol-containing membranes.
We conclude that AnxA8 affects CD63/VEGFR2/beta1 integrin complex formation, leading to hyperactivation of the VEGF-A signal transduction pathway, and severely disturbed VEGF-A-driven angiogenic sprouting.
Title: Annexin A8 promotes VEGF-A driven endothelial cell sprouting.
Annexins A2 and A8 in endothelial cell exocytosis and the control of vascular homeostasis
Title: Annexins A2 and A8 in endothelial cell exocytosis and the control of vascular homeostasis.
Increased annexin A8 expression is associated with poor prognosis in early-stage pancreatic cancer.
Title: Annexin A8 Is a Prognostic Marker and Potential Therapeutic Target for Pancreatic Cancer.
High ANXA8 gene expression is associated with lymph node metastasis in oral squamous cell carcinoma.
Title: Annexin A8 is a novel molecular marker for detecting lymph node metastasis in oral squamous cell carcinoma.
Annexin A8 controls leukocyte recruitment to activated endothelial cells via cell surface delivery of CD63.
Title: Annexin A8 controls leukocyte recruitment to activated endothelial cells via cell surface delivery of CD63.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
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
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylserine 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 blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in endosomal transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosomal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of phospholipase A2 activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
is_active_in vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: annexin A8

Names: VAC-beta; annexin VIII; annexin-8; vascular anticoagulant-beta

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_001040084.3 → NP_001035173.1 annexin A8 isoform 2

See identical proteins and their annotated locations for NP_001035173.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1. An in-frame AUG is located 66 codons upstream of the annotated translation start site but was not annotated as a start site since it is not conserved and is in a weak Kozak sequence context.

Source sequence(s)

BC004376, DC339657, DR980366

Consensus CDS

CCDS73122.1

UniProtKB/Swiss-Prot

A6NDE6, A6NLM1, B4DKI1, B4DTC9, P13928, Q5T2P8, Q5VTM4, Q6GMY3, Q9BT34

UniProtKB/TrEMBL

B4DTB3

Related

ENSP00000462880.1, ENST00000585281.6

Conserved Domains (1) summary

pfam00191
Location:26 → 90

Annexin; Annexin
NM_001271702.2 → NP_001258631.1 annexin A8 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1). An in-frame AUG is located 66 codons upstream of the annotated translation start site but was not annotated as a start site since it is not conserved and is in a weak Kozak sequence context.

Source sequence(s)

AK300139, AL591684, BC073755, DC339657

Consensus CDS

CCDS73123.1

UniProtKB/TrEMBL

A0A087WTN9, B4DTB3

Related

ENSP00000478026.1, ENST00000611843.4

Conserved Domains (2) summary

smart00335
Location:76 → 128

ANX; Annexin repeats

pfam00191
Location:135 → 200

Annexin; Annexin
NM_001271703.2 → NP_001258632.1 annexin A8 isoform 3

See identical proteins and their annotated locations for NP_001258632.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks exons in the 5' coding region compared to variant 1. It encodes isoform 3, which is shorter when compared to isoform 1. An in-frame AUG is located 66 codons upstream of the annotated translation start site but was not annotated as a start site since it is not conserved and is in a weak Kozak sequence context.

Source sequence(s)

AK296573, AL591684, BC073755, DC339657

Consensus CDS

CCDS73121.1

UniProtKB/TrEMBL

A0A087WUP0

Related

ENSP00000463091.1, ENST00000583911.5

Conserved Domains (2) summary

pfam00191
Location:35 → 100

Annexin; Annexin

cl02574
Location:8 → 28

Annexin; Annexin

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

47467993..47991796 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006717951.4 → XP_006718014.1 annexin A8 isoform X4

UniProtKB/TrEMBL

B4DQE1

Conserved Domains (1) summary

pfam00191
Location:50 → 114

Annexin; Annexin
XM_011540098.1 → XP_011538400.1 annexin A8 isoform X2

Conserved Domains (1) summary

pfam00191
Location:147 → 211

Annexin; Annexin
XM_011540096.1 → XP_011538398.1 annexin A8 isoform X1

Conserved Domains (1) summary

pfam00191
Location:147 → 211

Annexin; Annexin
XM_011540099.2 → XP_011538401.1 annexin A8 isoform X3

Conserved Domains (1) summary

pfam00191
Location:147 → 211

Annexin; Annexin
XM_047425665.1 → XP_047281621.1 annexin A8 isoform X6
XM_011540101.3 → XP_011538403.1 annexin A8 isoform X5

Conserved Domains (1) summary

pfam00191
Location:147 → 211

Annexin; Annexin