MOB2

protein-coding

MOB kinase activator 2, the group of MOB kinase activators

Gene summary

Predicted to enable protein kinase activator activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within actin cytoskeleton organization; positive regulation of neuron projection development; and positive regulation of protein phosphorylation. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001172223.3

Inheritance

—

ClinVar variants

U:36B:21

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.35

Max pathogenic AF

—

Genomic locus

chr11:1,469,457-1,501,247

External References & Databases

Ensembl (ENSG00000182208)

Transcript & Mutation Effects

hg38 • Region Span ~31.8 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 MOB2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 53

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001172223.3. 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	16 clinvar		17
missense			32 clinvar	5 clinvar		37
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	36	21	0	57

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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_001172223.3	RefSeq	NP_001165694.1	5	MANE Select
ENST00000329957.7	Ensembl	ENSP00000328694.6	5	MANE Select
NM_053005.5	RefSeq	NP_443731.2	4	Standard
ENST00000983818.1	Ensembl	ENSP00000653635.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

positive regulation of protein phosphorylation
positive regulation of neuron projection development
actin cytoskeleton organization

Molecular Function

protein binding
metal ion binding

Cellular Component

nucleus
nucleolus
cytosol
neuron projection terminus
perinuclear region of cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000329957
Coding exons: 5
Length: 31791
Individuals with no LoFs: 124578
Homozygous LoFs: 0
Heterozygous LoFs: 6
Defined: 124584
p: 0.0000241

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.05	129	167	0.771	0.0000106	1750
Missense (PolyPhen)		50	75.136	0.66546		797
Synonymous	-0.00730	78	77.9	1.00	0.00000608	495
Loss of Function	2.04	4	11.4	0.350	5.85e-7	129

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000074	0.000065	rare
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)	0.000028	0.000027	rare
South Asian	0	0.0	absent
Other	0.00034	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Stimulates the autophosphorylation and kinase activity of STK38 and STK38L. {ECO:0000269|PubMed:15067004}.;

Intolerance Scores

LoFtool: 0.333
RVIS EVS: -0.45
RVIS percentile EVS: 24

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.231

Gene Damage Prediction

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