ANKRD54

protein-coding

ankyrin repeat domain 54, the group of Ankyrin repeat domain containing|MicroRNA protein coding host genes

Gene summary

Predicted to enable protein kinase regulator activity. Predicted to be involved in positive regulation of erythrocyte differentiation and regulation of intracellular signal transduction. Predicted to act upstream of or within nucleocytoplasmic transport and regulation of protein kinase activity. Predicted to be located in midbody. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2025]

MANE transcript

NM_138797.4

Inheritance

—

ClinVar variants

U:50B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.44

Max pathogenic AF

—

Genomic locus

chr22:37,830,855-37,849,327

External References & Databases

Ensembl (ENSG00000100124)

Transcript & Mutation Effects

hg38 • Region Span ~18.5 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 ANKRD54 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 41

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138797.4. 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 clinvar	2
missense			43 clinvar	2 clinvar		45
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	50	2	1	53

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 43 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_138797.4	RefSeq	NP_620152.1	8	MANE Select
ENST00000215941.9	Ensembl	ENSP00000215941.4	8	MANE Select
NM_001349853.2	RefSeq	NP_001336782.1	8	Standard
NM_001363839.1	RefSeq	NP_001350768.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

nucleocytoplasmic transport
positive regulation of erythrocyte differentiation
regulation of protein kinase activity
regulation of intracellular signal transduction

Molecular Function

protein binding
protein kinase regulator activity
protein-containing complex binding

Cellular Component

nucleus
cytoplasm
midbody

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000215941
Coding exons: 8
Length: 18473
Individuals with no LoFs: 125728
Homozygous LoFs: 0
Heterozygous LoFs: 14
Defined: 125742
p: 0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.935	117	149	0.785	0.00000837	1868
Missense (PolyPhen)		31	52.767	0.58749		628
Synonymous	-0.859	71	62.4	1.14	0.00000317	628
Loss of Function	2.06	7	15.9	0.441	0.00000103	157

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00012	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000079	0.000079	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation. {ECO:0000250}.;

Recessive Scores

pRec: 0.113

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.467

Gene Damage Prediction

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