ANKRD23

protein-coding

ankyrin repeat domain 23, the group of Ankyrin repeat domain containing

Gene summary

This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008]

MANE transcript

NM_144994.8

Inheritance

—

ClinVar variants

U:63B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.43

Max pathogenic AF

—

Genomic locus

chr2:96,824,526-96,857,934

External References & Databases

Ensembl (ENSG00000163126)

Transcript & Mutation Effects

hg38 • Region Span ~33.4 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 ANKRD23 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 60

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_144994.8. 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			60 clinvar	4 clinvar		64
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	63	4	0	67

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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_144994.8	RefSeq	NP_659431.5	9	MANE Select
ENST00000318357.9	Ensembl	ENSP00000321679.4	9	MANE Select
ENST00000331001.2	Ensembl	ENSP00000333108.2	8	Standard
ENST00000331001.3	Ensembl	ENSP00000333108.2	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

response to mechanical stimulus

Molecular Function

titin binding

Cellular Component

nucleoplasm
cytosol
intercalated disc
actin cytoskeleton
myofibril

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000318357
Coding exons: 9
Length: 33409
Individuals with no LoFs: 125520
Homozygous LoFs: 0
Heterozygous LoFs: 228
Defined: 125748
p: 0.000907

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.580	154	176	0.877	0.0000104	1928
Missense (PolyPhen)		44	59.049	0.74514		725
Synonymous	0.509	67	72.5	0.924	0.00000434	606
Loss of Function	-1.62	24	16.8	1.43	8.81e-7	190

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00064	0.00062	rare
Latino/Admixed American	0.00096	0.00095	rare
Ashkenazi Jewish	0.0023	0.0023	notable
East Asian	0.0017	0.0017	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00075	0.00075	rare
South Asian	0.0013	0.0013	notable
Other	0.0012	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in the energy metabolism. Could be a molecular link between myofibrillar stretch-induced signaling pathways and muscle gene expression.;

Recessive Scores

pRec: 0.118

Intolerance Scores

LoFtool: 0.909
RVIS EVS: 0.13
RVIS percentile EVS: 63.2

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0698

Gene Damage Prediction

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