MOB3B

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

Basic information

Region (hg38): 9:27325208-27529814

Previous symbols: [ "MOBKL2B", "C9orf35" ]

Links

ENSG00000120162 ∙ NCBI:79817 ∙ OMIM:617652 ∙ HGNC:23825 ∙ Uniprot:Q86TA1 ∙ 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 MOB3B gene.

• Inborn genetic diseases (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOB3B gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			6			6
Total	0	0	10	0	0

Variants in MOB3B

This is a list of pathogenic ClinVar variants found in the MOB3B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-27359053-C-A		not specified	Uncertain significance (Oct 12, 2021)
9-27455301-C-T		not specified	Uncertain significance (Jun 23, 2021)
9-27455402-A-G		not specified	Uncertain significance (Dec 17, 2023)
9-27455453-C-T		not specified	Uncertain significance (Jan 10, 2022)
9-27455454-G-A		not specified	Uncertain significance (Jun 03, 2022)
9-27455489-A-G		not specified	Uncertain significance (Jul 05, 2022)
9-27524356-T-C		not specified	Uncertain significance (Aug 20, 2023)
9-27524438-C-G		not specified	Uncertain significance (Sep 29, 2022)
9-27524470-T-C		not specified	Uncertain significance (Feb 10, 2022)
9-27524499-T-C		not specified	Uncertain significance (Dec 13, 2022)
9-27524515-T-C		not specified	Uncertain significance (Jun 09, 2022)
9-27524683-T-C		not specified	Uncertain significance (Nov 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOB3B	protein_coding	protein_coding	ENST00000262244	3	204573

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0164	0.894	125683	0	5	125688	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	95	131	0.724	0.00000788	1450
Missense in Polyphen		38	53.555	0.70956		632
Synonymous	0.365	45	48.2	0.933	0.00000280	395
Loss of Function	1.43	4	8.49	0.471	4.47e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Modulates LATS1 expression in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. {ECO:0000269|PubMed:28792927}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.95

Haploinsufficiency Scores

• pHI: 0.367
• hipred: N
• hipred_score: 0.319
• ghis: 0.537

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mob3b

Gene ontology

• Biological process: regulation of hippo signaling
• Molecular function: protein binding;metal ion binding