MOB3A

protein-coding

MOB kinase activator 3A, the group of MOB kinase activators

Gene summary

Predicted to enable protein kinase activator activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

MOBKL2A

MANE transcript

NM_130807.3

Inheritance

—

ClinVar variants

U:55B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.96

Max pathogenic AF

—

Genomic locus

chr19:2,071,036-2,096,673

External References & Databases

Ensembl (ENSG00000172081)

Transcript & Mutation Effects

hg38 • Region Span ~25.6 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 MOB3A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 52

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_130807.3. 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			2 clinvar			2
missense			53 clinvar	1 clinvar		54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	55	1	0	56

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 36 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_130807.3	RefSeq	NP_570719.1	3	MANE Select
ENST00000357066.8	Ensembl	ENSP00000349575.2	3	MANE Select
ENST00000586676.5	Ensembl	ENSP00000468726.1	1	Standard
ENST00000588048.2	Ensembl	ENSP00000466080.2	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

metal ion binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000357066
Coding exons: 3
Length: 25636
Individuals with no LoFs: 125709
Homozygous LoFs: 0
Heterozygous LoFs: 37
Defined: 125746
p: 0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.639	182	159	1.14	0.0000118	1436
Missense (PolyPhen)		88	75.088	1.172		663
Synonymous	0.682	68	75.5	0.900	0.00000648	406
Loss of Function	0.111	7	7.32	0.956	3.12e-7	82

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00023	0.00023	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00013	0.00013	rare
South Asian	0.00030	0.00029	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May regulate the activity of kinases. {ECO:0000250}.;

Intolerance Scores

RVIS EVS: -0.25
RVIS percentile EVS: 36.07

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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