MYO9B myosin IXB [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYO9Bprovided by HGNC
Official Full Name: myosin IXBprovided by HGNC
Primary source: HGNC:HGNC:7609
See related: Ensembl:ENSG00000099331 MIM:602129; AllianceGenome:HGNC:7609
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MYR5; CELIAC4
Summary: This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Expression: Broad expression in spleen (RPKM 30.6), bone marrow (RPKM 21.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 40

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (17075777..17213286)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (17210700..17348159)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (17186587..17324095)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Myo9b mutations are associated with altered dendritic cell functions and increased susceptibility to autoimmune diabetes onset.
Title: Myo9b mutations are associated with altered dendritic cell functions and increased susceptibility to autoimmune diabetes onset.
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Title: Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Local Myo9b RhoGAP activity regulates cell motility.
Title: Local Myo9b RhoGAP activity regulates cell motility.
The RhoA regulators Myo9b and GEF-H1 are targets of cyclic nucleotide-dependent kinases in platelets.
Title: The RhoA regulators Myo9b and GEF-H1 are targets of cyclic nucleotide-dependent kinases in platelets.
TSAd Plays a Major Role in Myo9b-Mediated Suppression of Malignant Pleural Effusion by Regulating TH1/TH17 Cell Response.
Title: TSAd Plays a Major Role in Myo9b-Mediated Suppression of Malignant Pleural Effusion by Regulating T(H)1/T(H)17 Cell Response.
Class IX Myosins: Motorized RhoGAP Signaling Molecules.
Title: Class IX Myosins: Motorized RhoGAP Signaling Molecules.
findings demonstrated a key role of circMYO9B/miR-4316/FOXP4 axis in regulating breast cancer progression
Title: Circular RNA circMYO9B facilitates breast cancer cell proliferation and invasiveness via upregulating FOXP4 expression by sponging miR-4316.
Analysis of PTPN22, ZFAT and MYO9B polymorphisms in Turner Syndrome and risk of autoimmune disease.
Title: Analysis of PTPN22, ZFAT and MYO9B polymorphisms in Turner Syndrome and risk of autoimmune disease.
data indicate that polymorphisms in MY09B are associated with the risk of inflammatory bowel disease
Title: MYO9B gene polymorphisms are associated with the risk of inflammatory bowel diseases.
Mutating either of the two arginine fingers impaired the catalytic activity of Myo9b-RhoGAP.
Title: Noncanonical Myo9b-RhoGAP Accelerates RhoA GTP Hydrolysis by a Dual-Arginine-Finger Mechanism.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Celiac disease, susceptibility to, 4 MedGen: C1857847 OMIM: 609753 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MYO9B_8490 (e-PCR)
- UniSTS:467787

WI-11661 (e-PCR)
- UniSTS:81495

D19S593 (e-PCR), detects polymorphism
- UniSTS:62082

D19S899 (e-PCR), detects polymorphism
- UniSTS:13956

RH77938 (e-PCR)
- UniSTS:91074

RH65322 (e-PCR)
- UniSTS:86469

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ADP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activator activity	TAS Traceable Author Statement more info
enables Roundabout binding	IPI Inferred from Physical Interaction more info	PubMed
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables microfilament motor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in ARF protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in Rho protein signal transduction	IC Inferred by Curator more info	PubMed
involved_in Roundabout signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament-based movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament-based movement	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament-based movement	TAS Traceable Author Statement more info	PubMed
involved_in lamellipodium morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of Rho protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in actin filament	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in lamellipodium	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	HDA more info	PubMed
part_of myosin complex	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic actin cytoskeleton	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in ruffle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: unconventional myosin-IXb

Names: myosin-IXb; unconventional myosin-9b

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013068.2 RefSeqGene

Range

5002..142511

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130065.2 → NP_001123537.1 unconventional myosin-IXb isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region due to the use of an alternate splice site in the penultimate exon. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AB209997, AC020908, BC018108, BF905466, BI001923, BI827217, CN284963, DR006748

Consensus CDS

CCDS46010.1

UniProtKB/TrEMBL

Q4LE74

Related

ENSP00000471457.1, ENST00000595618.5

Conserved Domains (6) summary

cd01779
Location:7 → 112

Myosin_IXb_RA; ubitquitin-like domain of Myosin_IXb_RA

smart00015
Location:1000 → 1022

IQ; Calmodulin-binding motif

smart00242
Location:141 → 950

MYSc; Myosin. Large ATPases

cd00029
Location:1633 → 1681

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cd04407
Location:1698 → 1883

RhoGAP_myosin_IXB; RhoGAP_myosin_IXB: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in myosins IXB. Class IX myosins contain a characteristic head domain, a neck domain and a tail domain which contains a C6H2-zinc binding motif and a ...

cd01385
Location:160 → 941

MYSc_Myo9; class IX myosin, motor domain
NM_004145.4 → NP_004136.2 unconventional myosin-IXb isoform 1

See identical proteins and their annotated locations for NP_004136.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AB290184, AC020908, BC018108, BF905466, BI001923, BI827217, CN284963, DR006748

Consensus CDS

CCDS92551.1

UniProtKB/Swiss-Prot

O75314, Q13459, Q9NUJ2, Q9UHN0

UniProtKB/TrEMBL

B0I1T6, M0R0P8

Related

ENSP00000507803.1, ENST00000682292.1

Conserved Domains (6) summary

cd01779
Location:7 → 112

Myosin_IXb_RA; ubitquitin-like domain of Myosin_IXb_RA

smart00015
Location:1000 → 1022

IQ; Calmodulin-binding motif

smart00242
Location:141 → 950

MYSc; Myosin. Large ATPases

cd00029
Location:1633 → 1681

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cd04407
Location:1698 → 1883

RhoGAP_myosin_IXB; RhoGAP_myosin_IXB: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in myosins IXB. Class IX myosins contain a characteristic head domain, a neck domain and a tail domain which contains a C6H2-zinc binding motif and a ...

cd01385
Location:160 → 941

MYSc_Myo9; class IX myosin, motor domain