ANXA8L1

protein-coding

annexin A8 like 1, the group of Annexins

Gene 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, Apr 2014]

Previous symbols:

ANXA8L2

MANE transcript

NM_001098845.3

Inheritance

—

ClinVar variants

U:17B:1

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr10:46,375,627-46,391,784

External References & Databases

Ensembl (ENSG00000264230)

Transcript & Mutation Effects

hg38 • Region Span ~16.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ANXA8L1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 17

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001098845.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			17 clinvar			17
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	17	0	1	18

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001098845.3	RefSeq	NP_001092315.2	12	MANE Select
ENST00000619162.5	Ensembl	ENSP00000480221.1	12	MANE Select
NM_001278923.2	RefSeq	NP_001265852.1	10	Standard
NM_001278924.2	RefSeq	NP_001265853.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

endosome organization
endosomal transport
negative regulation of serine-type endopeptidase activity
negative regulation of phospholipase A2 activity

Molecular Function

calcium ion binding
calcium-dependent phospholipid binding
phosphatidylinositol-4,5-bisphosphate binding
phosphatidylinositol-3,4,5-trisphosphate binding
phosphatidylinositol-3,4-bisphosphate binding

Cellular Component

cell

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.226