ANO7

protein-coding

anoctamin 7, the group of Anoctamins

Gene summary

This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011]

Previous symbols:

PCANAP5
TMEM16G

MANE transcript

NM_001370694.2

Inheritance

—

ClinVar variants

U:154B:30

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.11

Max pathogenic AF

—

Genomic locus

chr2:241,188,509-241,225,976

External References & Databases

Ensembl (ENSG00000146205)

Transcript & Mutation Effects

hg38 • Region Span ~37.5 kb

Loading mutation effect viewer...

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 ANO7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 152

not providedTotal: 32

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001370694.2. 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	7 clinvar	5 clinvar	13
missense			149 clinvar	10 clinvar	5 clinvar	164
nonsense						0
start loss						0
frameshift				1 clinvar	1 clinvar	2
splice donor/acceptor (+/-2bp)			4 clinvar	1 clinvar		5
Total	0	0	154	19	11	184

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 42 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001370694.2	RefSeq	NP_001357623.1	24	MANE Select
ENST00000674324.2	Ensembl	ENSP00000501393.1	24	MANE Select
NM_001001666.4	RefSeq	NP_001001666.2	3	Standard
ENST00000274979.12	Ensembl	ENSP00000274979.8	25	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Stimuli-sensing channels
Ion channel transport
Transport of small molecules

Biological Process

chloride transport
ion transmembrane transport
calcium activated phosphatidylserine scrambling
calcium activated phosphatidylcholine scrambling
calcium activated galactosylceramide scrambling

Molecular Function

intracellular calcium activated chloride channel activity
phospholipid scramblase activity
protein dimerization activity

Cellular Component

endoplasmic reticulum
cytosol
plasma membrane
integral component of membrane
cell junction

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000274979
Coding exons: 25
Length: 36869
Individuals with no LoFs: 125030
Homozygous LoFs: 3
Heterozygous LoFs: 715
Defined: 125748
p: 0.00286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.174	564	576	0.980	0.0000365	5966
Missense (PolyPhen)		166	182.64	0.90889		2007
Synonymous	-1.61	281	249	1.13	0.0000170	1860
Loss of Function	-0.721	60	54.3	1.11	0.00000280	555

Population LoF Frequency

Population	CAF	p-value	Status
African	0.011	0.011	notable
Latino/Admixed American	0.0020	0.0020	notable
Ashkenazi Jewish	0.0033	0.0033	notable
East Asian	0.0036	0.0035	notable
Finnish	0.0035	0.0035	notable
European (Non-Finnish)	0.0024	0.0023	notable
South Asian	0.00085	0.00085	rare
Other	0.0023	0.0023	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium- activated chloride channel (CaCC) activity. May play a role in cell-cell interactions. {ECO:0000250|UniProtKB:Q14AT5, ECO:0000269|PubMed:17308099}.;

Recessive Scores

pRec: 0.106

Intolerance Scores

LoFtool: 0.987
RVIS EVS: 0.27
RVIS percentile EVS: 70.59

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.168

Gene Damage Prediction

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