Human Gene MYO9B (ENST00000682292.1_3) from GENCODE V47lift37
  Description: myosin IXB, transcript variant 1 (from RefSeq NM_004145.4)
Gencode Transcript: ENST00000682292.1_3
Gencode Gene: ENSG00000099331.14_14
Transcript (Including UTRs)
   Position: hg19 chr19:17,186,587-17,324,095 Size: 137,509 Total Exon Count: 40 Strand: +
Coding Region
   Position: hg19 chr19:17,212,528-17,323,119 Size: 110,592 Coding Exon Count: 39 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:17,186,587-17,324,095)mRNA (may differ from genome)Protein (2157 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYO9B_HUMAN
DESCRIPTION: RecName: Full=Unconventional myosin-IXb; AltName: Full=Unconventional myosin-9b;
FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. May be involved in the remodeling of the actin cytoskeleton. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions. Also acts as a GTPase activating protein on Rho.
INTERACTION: Q9Y6D6:ARFGEF1; NbExp=2; IntAct=EBI-6251250, EBI-1044254;
SUBCELLULAR LOCATION: Cytoplasm, cell cortex. Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Note=In undifferentiated cells colocalizes with F-actin in the cell periphery while in differentiated cells its localization is cytoplasmic with the highest levels in the perinuclear region.
TISSUE SPECIFICITY: Expressed predominantly in peripheral blood leukocytes and at lower levels, in thymus, spleen, testis, prostate, ovary, brain, small intestine and lung.
DISEASE: Genetic variation in MYO9B is the cause of susceptibility to celiac disease type 4 (CELIAC4) [MIM:609753]. It is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins. In its classic form, celiac disease is characterized in children by malabsorption and failure to thrive.
SIMILARITY: Contains 4 IQ domains.
SIMILARITY: Contains 1 myosin head-like domain.
SIMILARITY: Contains 1 phorbol-ester/DAG-type zinc finger.
SIMILARITY: Contains 1 Ras-associating domain.
SIMILARITY: Contains 1 Rho-GAP domain.
CAUTION: Represents a unconventional myosin. This protein should not be confused with the conventional myosin-9 (MYH9).
SEQUENCE CAUTION: Sequence=AAC50402.1; Type=Miscellaneous discrepancy; Note=The C-terminal sequence from position 1917 onwards appears to be not correctly spliced; Sequence=BAA92132.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Wikipedia; Note=MYO9B entry; URL="http://en.wikipedia.org/wiki/MYO9B";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MYO9B
Diseases sorted by gene-association score: celiac disease 4* (594), celiac disease (28), ulcerative colitis (10), inflammatory bowel disease 6 (9), colitis (8), refractory celiac disease (7), dermatitis herpetiformis (7), autoimmune disease of gastrointestinal tract (6), inflammatory bowel disease 5 (6), ileocolitis (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -87.30156-0.560 Picture PostScript Text
3' UTR -389.80976-0.399 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000048 - IQ_motif_EF-hand-BS
IPR001609 - Myosin_head_motor_dom
IPR002219 - Prot_Kinase_C-like_PE/DAG-bd
IPR000159 - Ras-assoc
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom

Pfam Domains:
PF00063 - Myosin head (motor domain)
PF00612 - IQ calmodulin-binding motif
PF00620 - RhoGAP domain
PF00788 - Ras association (RalGDS/AF-6) domain

SCOP Domains:
48350 - GTPase activation domain, GAP
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
54236 - Ubiquitin-like
57889 - Cysteine-rich domain

ModBase Predicted Comparative 3D Structure on Q13459
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000146 microfilament motor activity
GO:0000166 nucleotide binding
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0003779 actin binding
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0008017 microtubule binding
GO:0016887 ATPase activity
GO:0017048 Rho GTPase binding
GO:0043531 ADP binding
GO:0046872 metal ion binding
GO:0048495 Roundabout binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0007018 microtubule-based movement
GO:0007165 signal transduction
GO:0007266 Rho protein signal transduction
GO:0030048 actin filament-based movement
GO:0035023 regulation of Rho protein signal transduction
GO:0035385 Roundabout signaling pathway
GO:0035556 intracellular signal transduction
GO:0043547 positive regulation of GTPase activity
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0032011 ARF protein signal transduction

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005884 actin filament
GO:0005938 cell cortex
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0016459 myosin complex
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AB209997 - Homo sapiens mRNA for MYO9B variant protein, complete cds, clone: ef05385.
AB290184 - Homo sapiens mRNA for MYO9B variant protein, complete cds.
U42391 - Human myosin-IXb mRNA, complete cds.
AB384667 - Synthetic construct DNA, clone: pF1KB0013, Homo sapiens MYO9B gene for myosin-IXb, complete cds, without stop codon, in Flexi system.
L29149 - Homo sapiens myosin mRNA, partial cds.
AY927576 - Homo sapiens mRNA sequence.
BC018108 - Homo sapiens myosin IXB, mRNA (cDNA clone IMAGE:3914927), partial cds.
AF143684 - Homo sapiens unconventional myosin IXb (MYO9b) mRNA, partial cds.
AK002201 - Homo sapiens cDNA FLJ11339 fis, clone PLACE1010743, weakly similar to Homo sapiens myosin-IXb splice variant mRNA.
AF020267 - Homo sapiens myosin-IXb splice variant (Myo9b) mRNA, partial cds.
BC094864 - Homo sapiens cDNA clone IMAGE:4850390.
BC061639 - Homo sapiens cDNA clone IMAGE:5585447, partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13459 (Reactome details) participates in the following event(s):

R-HSA-8985591 SLIT2-bound ROBO1 binds MYO9B
R-HSA-8985594 MYO9B inactivates RHOA
R-HSA-194922 GAPs inactivate Rho GTPase:GTP by hydrolysis
R-HSA-8985586 SLIT2:ROBO1 increases RHOA activity
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-376176 Signaling by ROBO receptors
R-HSA-194840 Rho GTPase cycle
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-422475 Axon guidance
R-HSA-194315 Signaling by Rho GTPases
R-HSA-168249 Innate Immune System
R-HSA-1266738 Developmental Biology
R-HSA-162582 Signal Transduction
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: MYO9B_HUMAN, MYR5, NM_004145, O75314, Q13459, Q9NUJ2, Q9UHN0, uc330jry.1, uc330jry.2
UCSC ID: ENST00000682292.1_3
RefSeq Accession: NM_004145.4
Protein: Q13459 (aka MYO9B_HUMAN or MY9B_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.