STK35

protein-coding

serine/threonine kinase 35

Gene summary

The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq, Jul 2008]

MANE transcript

NM_080836.4

Inheritance

—

ClinVar variants

U:78B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.21

Max pathogenic AF

—

Genomic locus

chr20:2,101,827-2,177,038

External References & Databases

Ensembl (ENSG00000125834)

Transcript & Mutation Effects

hg38 • Region Span ~75.2 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 STK35 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 80

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_080836.4. 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
missense			77 clinvar	3 clinvar		80
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	78	4	0	82

Loading ClinVar variants...

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_080836.4	RefSeq	NP_543026.2	3	MANE Select
ENST00000381482.8	Ensembl	ENSP00000370891.3	3	MANE Select
ENST00000493263.1	Ensembl	ENSP00000426612.1	2	Standard
ENST00000926982.1	Ensembl	ENSP00000597041.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein phosphorylation
meiotic cell cycle

Molecular Function

protein kinase activity
protein serine/threonine kinase activity
ATP binding

Cellular Component

nucleus
nucleolus
cytoplasm
nuclear body

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000381482
Coding exons: 3
Length: 75428
Individuals with no LoFs: 125738
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 125741
p: 0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.30	169	277	0.611	0.0000138	3374
Missense (PolyPhen)		16	75.865	0.2109		852
Synonymous	-0.848	128	116	1.10	0.00000593	1144
Loss of Function	2.81	3	14.6	0.206	7.04e-7	186

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000019	0.000018	rare
South Asian	0.000034	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.113

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.730

Gene Damage Prediction

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