ANKRD13C

protein-coding

ankyrin repeat domain 13C, the group of Ankyrin repeat domain containing

Gene summary

Enables protein carrier activity and signaling receptor binding activity. Involved in cellular response to prostaglandin D stimulus; protein targeting to membrane; and regulation of anoikis. Located in endoplasmic reticulum and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_030816.5

Inheritance

—

ClinVar variants

U:51B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.1

Max pathogenic AF

—

Genomic locus

chr1:70,258,999-70,354,734

External References & Databases

Ensembl (ENSG00000118454)

Transcript & Mutation Effects

hg38 • Region Span ~95.7 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 ANKRD13C variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 47

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_030816.5. 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			2 clinvar	1 clinvar		3
missense			46 clinvar	1 clinvar		47
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	51	2	0	53

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 82 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_030816.5	RefSeq	NP_110443.3	13	MANE Select
ENST00000370944.9	Ensembl	ENSP00000359982.4	13	MANE Select
ENST00000262346.6	Ensembl	ENSP00000262346.6	12	Standard
ENST00000262346.7	Ensembl	ENSP00000262346.6	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein retention in ER lumen
regulation of receptor biosynthetic process
regulation of anoikis

Molecular Function

signaling receptor binding

Cellular Component

endoplasmic reticulum
endoplasmic reticulum membrane
perinuclear region of cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370944
Coding exons: 13
Length: 94147
Individuals with no LoFs: 125734
Homozygous LoFs: 0
Heterozygous LoFs: 9
Defined: 125743
p: 0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.37	177	291	0.609	0.0000143	3554
Missense (PolyPhen)		34	99.148	0.34292		1255
Synonymous	0.629	101	109	0.923	0.00000539	1032
Loss of Function	4.69	3	31.3	0.0959	0.00000194	348

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000089	0.000087	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000035	0.000035	rare
South Asian	0	0.0	absent
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acts as a molecular chaperone for G protein-coupled receptors, regulating their biogenesis and exit from the ER. {ECO:0000269|PubMed:20959461}.;

Intolerance Scores

LoFtool: 0.190
RVIS EVS: -0.4
RVIS percentile EVS: 26.53

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.657

Gene Damage Prediction

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