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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MYO9B Gene

protein-coding   GIFtS: 64
GCID: GC19P017186

Myosin IXB


(Previous symbol: CELIAC4)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Myosin IXB1 2     myosin-IXb2
CELIAC41 2 5     Unconventional Myosin IXb2
MYR52 3 5     Unconventional Myosin-IXb2
Unconventional Myosin-9b2 3     

External Ids:    HGNC: 76091   Entrez Gene: 46502   Ensembl: ENSG000000993317   OMIM: 6021295   UniProtKB: Q134593   

Export aliases for MYO9B gene to outside databases

Previous GC identifers: GC19P017706 GC19P017604 GC19P017057 GC19P017047 GC19P017073 GC19P016754


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MYO9B Gene:
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)

GeneCards Summary for MYO9B Gene: 
MYO9B (myosin IXB) is a protein-coding gene. Diseases associated with MYO9B include ulcerative colitis, and celiac disease, and among its related super-pathways are Antioxidant Action of Vitamin-C and Regulation of actin dynamics for phagocytic cup formation. GO annotations related to this gene include calmodulin binding and protein homodimerization activity. An important paralog of this gene is MYO3A.

UniProtKB/Swiss-Prot: MYO9B_HUMAN, Q13459
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

Gene Wiki entry for MYO9B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYO9B gene promoter:
         Elk-1   GATA-3   RREB-1   GCNF   MIF-1   GATA-1   AREB6   GCNF-1   Cart-1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYO9B promoter sequence
   Search SABiosciences Chromatin IP Primers for MYO9B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYO9B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.1   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.1

MYO9B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYO9B gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P017186:  view genomic region     (about GC identifiers)

Start:
17,186,591 bp from pter      End:
17,325,346 bp from pter
Size:
138,756 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MYO9B_HUMAN, Q13459 (See protein sequence)
Recommended Name: Unconventional myosin-IXb  
Size: 2157 amino acids; 243401 Da
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
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;
Secondary accessions: O75314 Q9NUJ2 Q9UHN0
Alternative splicing: 2 isoforms:  Q13459-1   Q13459-2   

Explore the universe of human proteins at neXtProt for MYO9B: NX_Q13459

Explore proteomics data for MYO9B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13459

  • MYO9B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYO9B Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001123537.1  NP_004136.2  

    ENSEMBL proteins: 
     ENSP00000471457   ENSP00000471367   ENSP00000472915   ENSP00000470849   ENSP00000472611  
     ENSP00000469437   ENSP00000472964   ENSP00000469289   ENSP00000472296   ENSP00000380444  
    Reactome Protein details: Q13459
    Human Recombinant Protein Products for MYO9B: 
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    Cloud-Clone Corp. Proteins for MYO9B 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IEA--
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA8907710
    GO:0005829cytosol TAS--
    GO:0005884actin filament ----

    MYO9B for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    MYOIX: Myosins / Myosin superfamily : Class IX

    5/7 InterPro protein domains (see all 7):
     IPR008936 Rho_GTPase_activation_prot
     IPR000159 Ras-assoc
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS
     IPR002219 Prot_Kinase_C-like_PE/DAG-bd

    Graphical View of Domain Structure for InterPro Entry Q13459

    ProtoNet protein and cluster: Q13459

    3 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB000159 RA domain
    IPB000198 RhoGAP domain


    UniProtKB/Swiss-Prot: MYO9B_HUMAN, Q13459
    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


    MYO9B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYO9B_HUMAN, Q13459
    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

         Genatlas biochemistry entry for MYO9B:
    myosin IXB,229kDa,unconventional,apparently non filamentous,ortholog of rat myosin myr5,mostly expressed in
    peripheral blood lymphocytes

         Gene Ontology (GO): 5/16 molecular function terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity IDA11901422
    GO:0003774motor activity ----
    GO:0003779actin binding IDA16338935
    GO:0005096GTPase activator activity ----
    GO:0005100Rho GTPase activator activity IDA15644318
         
    MYO9B for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MYO9B:
     Decreased focal adhesion (FA)  

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Myo9b):
     cellular  hematopoietic system  immune system  normal 

    MYO9B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Myo9btm1.2Bah for MYO9B

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYO9B 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MYO9B About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    2Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.80
    Fcgamma receptor (FCGR) dependent phagocytosis0.80
    3Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35
    4Rho GTPase cycle
    Signaling by Rho GTPases1.00
    Rho GTPase cycle1.00
    5Immune System
    Immune System0.56
    Innate Immune System0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MYO9B
        G-protein signaling RhoA regulation pathway

    5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYO9B (see all 11)
        RhoA Pathway
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex
    Epithelial Adherens Junctions

    1 GeneGo (Thomson Reuters) Pathway for MYO9B
        G-protein signaling RhoA regulation pathway

    1 BioSystems Pathway for MYO9B
        Regulation of RhoA activity

    5/7        Reactome Pathways for MYO9B (see all 7)
        Signaling by Rho GTPases
    Regulation of actin dynamics for phagocytic cup formation
    Signal Transduction
    Fcgamma receptor (FCGR) dependent phagocytosis
    Rho GTPase cycle



    MYO9B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MYO9B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/56 Interacting proteins for MYO9B (Q134591, 2, 3 ENSP000003804444) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARFGEF1Q9Y6D61, 3, ENSP000002622154EBI-6251250,EBI-1044254 I2D: score=2 STRING: ENSP00000262215
    CALM1P621583, ENSP000003494674I2D: score=3 STRING: ENSP00000349467
    CALM2P621583I2D: score=3 
    CALM3P621583I2D: score=3 
    PKN2Q165132, 3, ENSP000003595524MINT-8266711 I2D: score=2 STRING: ENSP00000359552
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002548monocyte chemotaxis IEA--
    GO:0006200ATP catabolic process ----
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007266Rho protein signal transduction IC9490638

    MYO9B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MYO9B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MYO9B

    10/844 HMDB Compounds for MYO9B (see all 844)    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----

    1 Novoseek inferred chemical compound relationship for MYO9B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 12 3 9490638 (1), 16338935 (1)

    Search CenterWatch for drugs/clinical trials and news about MYO9B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for MYO9B gene (2 alternative transcripts): 
    NM_001130065.1  NM_004145.3  

    Unigene Cluster for MYO9B:

    Myosin IXB
    Hs.123198  [show with all ESTs]
    Unigene Representative Sequence: NM_001130065
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000595618 ENST00000594824 ENST00000595641 ENST00000593411 ENST00000594971
    ENST00000598101 ENST00000602177 ENST00000601749 ENST00000598464 ENST00000601490
    ENST00000593533 ENST00000599420 ENST00000602158 ENST00000596942 ENST00000597073
    ENST00000598419 ENST00000597572 ENST00000597881
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    Additional mRNA sequence: 

    AB209997.1 AB290184.1 AF020267.1 AF143684.1 AY927576.1 BC018108.1 BC061639.1 BC094864.1 
    L29149.1 

    15 DOTS entries:

    DT.215361  DT.100749977  DT.75178025  DT.100028946  DT.100749976  DT.121456810  DT.100749975  DT.92470506 
    DT.100749693  DT.99997649  DT.92470455  DT.92470538  DT.95161067  DT.95104270  DT.99960894 

    24/310 AceView cDNA sequences (see all 310):

    BC018108 NM_004145 BM671278 BI827217 CF138966 BQ053690 BM710109 AK002201 
    CD721977 BI769398 BU521307 CF129942 BM142339 N53795 BQ440900 AI597946 
    AA360040 BQ574144 AI380010 AI017566 CR598001 AI347172 BF923290 BU738472 

    GeneLoc Exon Structure

    5/21 Alternative Splicing Database (ASD) splice patterns (SP) for MYO9B (see all 21)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19b ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28 ^ 29a · 29b · 29c ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33a · 33b ·
    SP1:                                            -     -                                                                                                         
    SP2:                                            -     -                                                                                                         
    SP3:                                            -     -                                                                                                         
    SP4:                                            -     -                                                                                                         
    SP5:                                            -     -                                                                                                         

    ExUns: 33c ^ 34a · 34b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for MYO9B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MYO9B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATAAAAAG
    MYO9B Expression
    About this image


    See MYO9B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYO9B

    SOURCE GeneReport for Unigene cluster: Hs.123198

    UniProtKB/Swiss-Prot: MYO9B_HUMAN, Q13459
    Tissue specificity: Expressed predominantly in peripheral blood leukocytes and at lower levels, in thymus, spleen,
    testis, prostate, ovary, brain, small intestine and lung

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MYO9B gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myo9b1 , 5 myosin IXb1, 5 82.18(n)1
    85.38(a)1
      8 (34.43 cM)5
    179251  NM_001142322.11  NP_001135794.11 
     712727145 
    chicken
    (Gallus gallus)
    Aves MYO9B1 myosin IXB 67.17(n)
    71.01(a)
      420135  XM_418252.3  XP_418252.3 
    lizard
    (Anolis carolinensis)
    Reptilia MYO9B6
    myosin IXB
    40(a)
    1 ↔ 1
    GL344263.1(38260-69855)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ079542.12   -- 77.37(n)    BJ079542.1 
    zebrafish
    (Danio rerio)
    Actinopterygii myo9b1 myosin IXb 58.44(n)
    55.64(a)
      560956  XM_684354.5  XP_689446.4 
    worm
    (Caenorhabditis elegans)
    Secernentea hum-73 myosin 42(a)   I(585863-607574)   --


    ENSEMBL Gene Tree for MYO9B (if available)
    TreeFam Gene Tree for MYO9B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYO9B gene
    MYO3A2  MYO9A2  MYO5C2  MYO102  MYO7A2  MYO5A2  MYO7B2  PLEKHH32  
    MYO5B2  MYO62  MYO3B2  
    18/25 SIMAP similar genes for MYO9B using alignment to 10 protein entries:     MYO9B_HUMAN (see all proteins) (see all similar genes):
    MYO9B variant protein    MYO1B    MYH9    MYH11    MYO1G    MYH10
    MYO1A    MYO5C    MYO9A    ARHGAP12    MYO19    MYO1E
    MYO10    ARHGAP24    ARHGAP5    MYO1D    CHN2    MYH2

    MYO9B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3530 SNPs in MYO9B are shown (see all 3530)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1816338451,2
    --17117073(+) ATCACA/GAGGTC 2 -- us2k10--------
    rs1858108831,2
    --17117124(+) TCTCTA/GCTAAA 2 -- us2k10--------
    rs1491464991,2
    C--17117196(+) CACAGA/GAGAAC 2 -- us2k10--------
    rs19730941,2
    C,F,A,H--17117201(-) AAGCAG/ATTCTC 2 -- us2k18Minor allele frequency- A:0.41NA WA CSA EA 133
    rs1432189181,2
    C--17117234(+) AGTGAG/TCCAAG 2 -- us2k10--------
    rs1483266571,2
    --17117244(+) GATCAC/TGCCAT 2 -- us2k10--------
    rs1134006951,2
    C,F--17117280(+) GACTCC/TGTCTC 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1456883671,2
    --17117340(+) CTGATA/GTAATA 2 -- us2k10--------
    rs1896437141,2
    --17117393(+) TGTGGC/GGGTGC 2 -- us2k10--------
    rs764935141,2
    C--17117421(+) GGATGA/TCTAGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MYO9B (17186591 - 17325346 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for MYO9B (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718272CNV Deletion23290073
    nsv821248CNV Deletion20802225
    esv2658735CNV Deletion23128226
    esv2718274CNV Deletion23290073
    nsv2427CNV Insertion18451855
    nsv911182CNV Loss21882294
    nsv458373CNV Loss19166990
    nsv911185CNV Loss21882294
    nsv470129CNV Loss18288195
    dgv3756n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): MYO9B
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602129   
    OMIM disorders: 609753  
    UniProtKB/Swiss-Prot: MYO9B_HUMAN, Q13459
  • Celiac disease 4 (CELIAC4) [MIM:609753]: A multifactorial, chronic disorder of the small intestine caused
    by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal
    absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat
    and rye induces a flat jejunal mucosa with infiltration of lymphocytes. Note=Disease susceptibility is associated
    with variations affecting the gene represented in this entry

  • 11 diseases for MYO9B:    About MalaCards
    ulcerative colitis    celiac disease    dermatitis herpetiformis    inflammatory bowel disease
    spasticity    crohn's disease    dermatitis    type 1 diabetes
    multiple sclerosis    schizophrenia    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for MYO9B:
    Celiac disease     Inflammatory bowel disease

    MYO9B for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for MYO9B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    celiac disease 74.4 14 16720215 (2), 17087940 (2), 16943798 (2), 18361936 (1) (see all 6)
    inflammatory bowel diseases 56.2 11 17087940 (4), 17944996 (2), 19235913 (1), 20303373 (1) (see all 5)
    genetic susceptibility 38.7 1 16720215 (1)

    Genetic Association Database (GAD): MYO9B
    Human Genome Epidemiology (HuGE) Navigator: MYO9B (23 documents)

    Export disorders for MYO9B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MYO9B gene, integrated from 9 sources (see all 69):
    (articles sorted by number of sources associating them with MYO9B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect. (PubMed id 16282976)1, 2, 4, 9 Monsuur A.J....Wijmenga C. (2005)
    2. Genetic variation in myosin IXB is associated with ulcerative colitis. (PubMed id 17087940)1, 4, 9 van Bodegraven A.A....van Heel D.A. (2006)
    3. Human myosin-IXb is a mechanochemically active motor and a GAP for rho. (PubMed id 9490638)1, 2, 9 Post P.L.... Mooseker M.S. (1998)
    4. Lack of association of MYO9B genetic variants with coeliac disease in a British cohort. (PubMed id 16423886)1, 4, 9 Hunt K.A....van Heel D.A. (2006)
    5. Human myosin-IXb, an unconventional myosin with a chimerin-like rho/rac GTPase-activating protein domain in its tail. (PubMed id 8907710)1, 2, 9 Wirth J.A.... Mooseker M.S. (1996)
    6. Association analysis of myosin IXB and type 1 diabete s. (PubMed id 20303373)1, 4, 9 Persengiev S....Alizadeh B.Z. (2010)
    7. Association of MYO9B haplotype with type 1 diabetes. (PubMed id 18361936)1, 4, 9 Santiago J.L....Urcelay E. (2008)
    8. Do MYO9B genetic variants predispose to coeliac disease? An association study in a cohort of South Italian children. (PubMed id 17267307)1, 4, 9 Cirillo G....Tolone C. (2007)
    9. MYO9B polymorphisms in multiple sclerosis. (PubMed id 19142207)1, 4, 9 Kemppinen A....Saarela J. (2009)
    10. The association of MYO9B gene in Italian patients with inflammatory bowel diseases. (PubMed id 17944996)1, 4, 9 Latiano A....Annese V. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4650 HGNC: 7609 AceView: MYO9B Ensembl:ENSG00000099331 euGenes: HUgn4650
    ECgene: MYO9B H-InvDB: MYO9B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MYO9B Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/MYO9B

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MYO9B gene:
    Search GeneIP for patents involving MYO9B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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