MYO9B

myosin IXB, the group of Myosin heavy chains, class IX

Basic information

Region (hg38): 19:17075776-17214537

Previous symbols: [ "CELIAC4" ]

Links

ENSG00000099331 ∙ NCBI:4650 ∙ OMIM:602129 ∙ HGNC:7609 ∙ Uniprot:Q13459 ∙ 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 MYO9B gene.

• Inborn genetic diseases (94 variants)
• not provided (15 variants)
• not specified (3 variants)
• Celiac disease, susceptibility to, 4 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO9B 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				9	2	11
missense			91	7	3	101
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	91	16	5

Variants in MYO9B

This is a list of pathogenic ClinVar variants found in the MYO9B region.

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

Position	Type	Phenotype	Significance	ClinVar
19-17101752-G-A		not specified	Uncertain significance (Aug 16, 2021)
19-17101761-C-T		MYO9B-related disorder	Likely benign (Apr 29, 2019)
19-17101802-G-A		not specified	Uncertain significance (Jun 30, 2023)
19-17101820-C-T		not specified	Uncertain significance (Dec 28, 2023)
19-17101840-C-G		not specified	Uncertain significance (Feb 28, 2024)
19-17101856-G-A		not specified	Uncertain significance (Sep 20, 2023)
19-17101884-G-A		Celiac disease, susceptibility to, 4 • MYO9B-related disorder	Benign/Likely benign (Apr 13, 2022)
19-17101959-A-G		not specified	Uncertain significance (Nov 18, 2022)
19-17101960-C-T		MYO9B-related disorder	Likely benign (Apr 29, 2019)
19-17102057-G-A		not specified	Uncertain significance (Jun 24, 2022)
19-17102098-G-A			Likely benign (Jul 01, 2022)
19-17102144-C-T		not specified	Uncertain significance (Aug 12, 2021)
19-17102154-C-T		not specified	Uncertain significance (Mar 14, 2023)
19-17102179-C-T		MYO9B-related disorder	Benign (May 16, 2019)
19-17102231-C-G		not specified	Uncertain significance (Nov 17, 2023)
19-17102342-G-A		not specified	Uncertain significance (Jun 29, 2023)
19-17102377-C-T		MYO9B-related disorder	Benign (Dec 31, 2019)
19-17102381-G-A		not specified	Uncertain significance (Nov 09, 2021)
19-17102408-G-A		not specified	Uncertain significance (Sep 12, 2023)
19-17102521-C-T			Likely benign (Oct 01, 2022)
19-17102533-C-G		not specified	Uncertain significance (Feb 27, 2023)
19-17145419-C-G		not specified	Uncertain significance (Dec 14, 2023)
19-17152648-G-A		not specified	Uncertain significance (Jul 12, 2022)
19-17154328-T-C		not specified	Uncertain significance (Aug 17, 2021)
19-17154400-C-A		not specified	Uncertain significance (Feb 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO9B	protein_coding	protein_coding	ENST00000595618	38	138756

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	6.49e-9	124632	0	20	124652	0.0000802

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.97	843	1.24e+3	0.682	0.0000847	13078
Missense in Polyphen		303	557.89	0.54312		6082
Synonymous	0.262	538	546	0.986	0.0000412	3923
Loss of Function	8.14	10	96.1	0.104	0.00000466	1152

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000159	0.000158
Ashkenazi Jewish	0.00	0.00
East Asian	0.000112	0.000111
Finnish	0.0000470	0.0000464
European (Non-Finnish)	0.0000811	0.0000708
Middle Eastern	0.000112	0.000111
South Asian	0.000197	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions (PubMed:9490638). Also acts as a GTPase activator for RHOA (PubMed:9490638, PubMed:26529257). Plays a role in the regulation of cell migration via its role as RHOA GTPase activator. This is regulated by its interaction with the SLIT2 receptor ROBO1; interaction with ROBO1 impairs interaction with RHOA and subsequent activation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257). {ECO:0000269|PubMed:26529257, ECO:0000269|PubMed:9490638}.
• Pathway: Vitamin D Receptor Pathway;Developmental Biology;Signal Transduction;SLIT2:ROBO1 increases RHOA activity;Rho GTPase cycle;Signaling by Rho GTPases;Signaling by ROBO receptors;Axon guidance;Regulation of RhoA activity (Consensus)

Recessive Scores

• pRec: 0.364

Intolerance Scores

• loftool: 0.0526
• rvis_EVS: -0.86
• rvis_percentile_EVS: 10.93

Haploinsufficiency Scores

• pHI: 0.192
• hipred: Y
• hipred_score: 0.792
• ghis: 0.572

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.899

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myo9b
• Phenotype: normal phenotype; hematopoietic system phenotype; immune system phenotype; cellular phenotype

Gene ontology

• Biological process: Rho protein signal transduction;actin filament-based movement;ARF protein signal transduction;regulation of Rho protein signal transduction;Roundabout signaling pathway;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction
• Cellular component: cytoplasm;cytosol;actin filament;cell cortex;actin cytoskeleton;membrane;myosin complex;perinuclear region of cytoplasm
• Molecular function: microfilament motor activity;actin binding;GTPase activator activity;protein binding;calmodulin binding;ATP binding;ATPase activity;Rho GTPase binding;protein homodimerization activity;ADP binding;metal ion binding;Roundabout binding