STK32A

protein-coding

serine/threonine kinase 32A, the group of AGC family kinases

Gene summary

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in intracellular signal transduction. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001112724.2

Inheritance

—

ClinVar variants

U:66

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.63

Max pathogenic AF

—

Genomic locus

chr5:147,234,963-147,387,855

External References & Databases

Ensembl (ENSG00000169302)

Transcript & Mutation Effects

hg38 • Region Span ~152.9 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 STK32A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 62

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001112724.2. 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
missense			65 clinvar			65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	66	0	0	66

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001112724.2	RefSeq	NP_001106195.1	12	MANE Select
ENST00000397936.8	Ensembl	ENSP00000381030.3	12	MANE Select
NM_001287740.2	RefSeq	NP_001274669.1	13	Standard
NM_145001.4	RefSeq	NP_659438.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

peptidyl-serine phosphorylation
intracellular signal transduction

Molecular Function

protein serine/threonine kinase activity
ATP binding
metal ion binding

Cellular Component

plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000397936
Coding exons: 12
Length: 152890
Individuals with no LoFs: 124632
Homozygous LoFs: 0
Heterozygous LoFs: 39
Defined: 124671
p: 0.000156

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.578	188	212	0.888	0.0000112	2654
Missense (PolyPhen)		89	97.334	0.91438		1202
Synonymous	-0.588	81	74.5	1.09	0.00000428	676
Loss of Function	1.64	14	22.3	0.627	0.00000105	275

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00034	0.00032	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00057	0.00056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00015	0.00015	rare
South Asian	0.000099	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0914

Intolerance Scores

LoFtool: 0.876
RVIS EVS: -0.49
RVIS percentile EVS: 22.36

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.457

Gene Damage Prediction

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