MOB2

MOB kinase activator 2, the group of MOB kinase activators

Basic information

Region (hg38): 11:1469457-1501247

Links

ENSG00000182208

∙ NCBI:81532 ∙ OMIM:611969 ∙ HGNC:24904 ∙ Uniprot:Q70IA6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MOB2 gene.

not_specified (49 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOB2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001172223.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				15 clinvar		15
missense			28 clinvar	5 clinvar		33
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	29	20	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOB2	protein_coding	protein_coding	ENST00000329957	5	31791

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0513	0.930	124578	0	6	124584	0.0000241

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	129	167	0.771	0.0000106	1750
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000738	0.0000645
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000276	0.0000266
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000342	0.000331

dbNSFP

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

Haploinsufficiency Scores

pHI
hipred: Y
hipred_score: 0.557
ghis: 0.588

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Mob2
Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process: positive regulation of protein phosphorylation;positive regulation of neuron projection development;actin cytoskeleton organization
Cellular component: nucleus;nucleolus;cytosol;neuron projection terminus;perinuclear region of cytoplasm
Molecular function: protein binding;metal ion binding