U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MYO9B myosin IXB [ Homo sapiens (human) ]

Gene ID: 4650, updated on 3-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See MYO9B in Genome Data Viewer
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_000019.10Genomic Context describing neighboring genes Neighboring gene C3 and PZP like alpha-2-macroglobulin domain containing 8 Neighboring gene RNA, 7SL, cytoplasmic 823, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17062521-17063084 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17071591-17072150 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17072151-17072708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17137792-17138700 Neighboring gene Sharpr-MPRA regulatory region 9643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10319 Neighboring gene Sharpr-MPRA regulatory region 7940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17190569-17191106 Neighboring gene HAUS augmin like complex subunit 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17192643-17193192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17221215-17221716 Neighboring gene small nucleolar RNA, H/ACA box 118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17227113-17227612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17241751-17242749 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17245802-17246410 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17245192-17245801 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17246411-17247020 Neighboring gene Sharpr-MPRA regulatory region 10590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17260531-17261223 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:17263413-17264160 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17269991-17270808 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17270809-17271626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17271627-17272442 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17288573-17288756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17291382-17291974 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:17291975-17292566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17321117-17321622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:17325806-17326386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17336955-17337629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17337630-17338303 Neighboring gene unconventional SNARE in the ER 1 Neighboring gene occludin/ELL domain containing 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Association analysis of MYO9B gene polymorphisms with celiac disease in a Swedish/Norwegian cohort. Amundsen SS, et al. Hum Immunol, 2006 Apr-May. PMID 16720215
  2. Is MYO9B the missing link between schizophrenia and celiac disease? Jungerius BJ, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Apr 5. PMID 17948900
  3. Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association. Koskinen LL, et al. J Med Genet, 2008 Apr. PMID 18077767
  4. Association of MYO9B haplotype with type 1 diabetes. Santiago JL, et al. Hum Immunol, 2008 Feb. PMID 18361936
  5. The association of MYO9B gene in Italian patients with inflammatory bowel diseases. Latiano A, et al. Aliment Pharmacol Ther, 2008 Feb 1. PMID 17944996

See all (116) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Local Myo9b RhoGAP activity regulates cell motility.
    Title: Local Myo9b RhoGAP activity regulates cell motility.
  4. 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.
  5. 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.
  6. Class IX Myosins: Motorized RhoGAP Signaling Molecules.
    Title: Class IX Myosins: Motorized RhoGAP Signaling Molecules.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Go to the top of the page Help

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
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

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 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

Go to the top of the page Help
Preferred Names
unconventional myosin-IXb
Names
myosin-IXb
unconventional myosin-9b

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

  1. NG_013068.2 RefSeqGene

    Range
    5002..142511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    17075777..17213286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    17210700..17348159
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13459.3 GenPept UniProtKB/Swiss-Prot:Q13459

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous