HUNK

protein-coding

hormonally up-regulated Neu-associated kinase

Gene summary

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in intracellular signal transduction. Predicted to act upstream of or within protein phosphorylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_014586.2

Inheritance

—

ClinVar variants

U:95B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.1

Max pathogenic AF

—

Genomic locus

chr21:31,873,020-32,044,633

External References & Databases

Ensembl (ENSG00000142149)

Transcript & Mutation Effects

hg38 • Region Span ~171.6 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 HUNK variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 92

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014586.2. 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	1 clinvar		2
missense			91 clinvar	4 clinvar		95
nonsense			2 clinvar			2
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	95	5	0	100

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014586.2	RefSeq	NP_055401.1	11	MANE Select
ENST00000270112.7	Ensembl	ENSP00000270112.2	11	MANE Select
ENST00000430354.1	Ensembl	ENSP00000411860.1	4	Standard
ENST00000439107.1	Ensembl	ENSP00000408219.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein phosphorylation
signal transduction
multicellular organism development
intracellular signal transduction

Molecular Function

protein serine/threonine kinase activity
protein binding
ATP binding

Cellular Component

nucleus
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000270112
Coding exons: 11
Length: 171319
Individuals with no LoFs: 125725
Homozygous LoFs: 0
Heterozygous LoFs: 21
Defined: 125746
p: 0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.90	314	424	0.740	0.0000253	4653
Missense (PolyPhen)		102	166.21	0.61367		1716
Synonymous	1.40	155	179	0.867	0.0000115	1423
Loss of Function	4.52	3	29.5	0.102	0.00000167	333

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000062	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.000097	0.000097	rare
South Asian	0.00013	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.109

Intolerance Scores

LoFtool: 0.436
RVIS EVS: -0.15
RVIS percentile EVS: 42.25

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.757

Gene Damage Prediction

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