ANXA7

protein-coding

annexin A7, the group of Annexins

Gene summary

Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]

Previous symbols:

ANX7

MANE transcript

NM_001156.5

Inheritance

—

ClinVar variants

P:1U:70B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr10:73,375,101-73,414,076

External References & Databases

Ensembl (ENSG00000138279)

Transcript & Mutation Effects

hg38 • Region Span ~39.0 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 ANXA7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 69

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001156.5. 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			65 clinvar	2 clinvar		67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)		1 clinvar	5 clinvar			6
Total	0	1	70	3	0	74

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 115 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001156.5	RefSeq	NP_001147.1	12	MANE Select
ENST00000372921.10	Ensembl	ENSP00000362012.4	12	MANE Select
NM_001320879.2	RefSeq	NP_001307808.1	11	Standard
NM_001320880.2	RefSeq	NP_001307809.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cellular calcium ion homeostasis
autophagy
hemostasis
cell population proliferation
regulation of cell shape

Molecular Function

RNA binding
integrin binding
calcium ion binding
protein binding
calcium-dependent phospholipid binding

Cellular Component

nucleus
nuclear envelope
endoplasmic reticulum membrane
cytosol
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000372919
Coding exons: 13
Length: 38976
Individuals with no LoFs: 125687
Homozygous LoFs: 0
Heterozygous LoFs: 60
Defined: 125747
p: 0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.402	256	275	0.932	0.0000145	3131
Missense (PolyPhen)		93	92.893	1.0012		1092
Synonymous	-0.0471	89	88.4	1.01	0.00000442	976
Loss of Function	1.83	19	29.8	0.638	0.00000166	335

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00049	rare
Latino/Admixed American	0.00033	0.00032	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00027	0.00026	rare
South Asian	0.00023	0.00023	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis.;

Recessive Scores

pRec: 0.327

Intolerance Scores

LoFtool: 0.968
RVIS EVS: -0.16
RVIS percentile EVS: 42.16

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.147

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium