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    MYO7B myosin VIIB [ Homo sapiens (human) ]

    Gene ID: 4648, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MYO7Bprovided by HGNC
    Official Full Name
    myosin VIIBprovided by HGNC
    Primary source
    HGNC:HGNC:7607
    See related
    Ensembl:ENSG00000169994 MIM:606541; AllianceGenome:HGNC:7607
    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
    Summary
    The protein encoded by this gene is found in brush border microvilli of epithelial cells in the intestines and kidneys. The encoded protein is involved in linking protocadherins to the actin cytoskeleton and is essential for proper microvilli function. This protein aids in the accumulation of intermicrovillar adhesion components such as harmonin and ANKS4B, and this accumulation is necessary for normal brush border action. [provided by RefSeq, Jan 2017]
    Expression
    Biased expression in duodenum (RPKM 42.9), small intestine (RPKM 30.6) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYO7B in Genome Data Viewer
    Location:
    2q14.3
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (127535683..127637726)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (127970920..128072980)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (128293259..128395301)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128237383-128238334 Neighboring gene RNA, U4 small nuclear 48, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128272241-128272823 Neighboring gene interacts with SUPT6H, CTD assembly factor 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128283275-128283974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16492 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:128284386-128284559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128293291-128294141 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:128303085-128303585 Neighboring gene uncharacterized LOC105373609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128335179-128335732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16497 Neighboring gene uncharacterized LOC101927834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128393428-128394374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128394375-128395321 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128395322-128396268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128396269-128397214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128406535-128407262 Neighboring gene Sharpr-MPRA regulatory region 7437 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128407989-128408715 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128408716-128409441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128416288-128416788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128419363-128420360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128420398-128420938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128420939-128421478 Neighboring gene LIM zinc finger domain containing 2 Neighboring gene G protein-coupled receptor 17 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:128457593-128458792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11936 Neighboring gene SFT2 domain containing 3 Neighboring gene WD repeat domain 33

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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

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    Related articles in PubMed

    1. Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins. Li J, et al. Proc Natl Acad Sci U S A, 2017 May 9. PMID 28439001, Free PMC Article
    2. Mechanistic Basis of Organization of the Harmonin/USH1C-Mediated Brush Border Microvilli Tip-Link Complex. Li J, et al. Dev Cell, 2016 Jan 25. PMID 26812017
    3. Myosin-VIIb, a novel unconventional myosin, is a constituent of microvilli in transporting epithelia. Chen ZY, et al. Genomics, 2001 Mar 15. PMID 11401444
    4. Myosin-7b Promotes Distal Tip Localization of the Intermicrovillar Adhesion Complex. Weck ML, et al. Curr Biol, 2016 Oct 24. PMID 27666969, Free PMC Article
    5. Genetic markers associated with plasma protein C level in African Americans: the atherosclerosis risk in communities (ARIC) study. Munir MS, et al. Genet Epidemiol, 2014 Dec. PMID 25376901, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The structure of the Myo7b CMF/USH1C PDZ complex provides mechanistic explanations for >20 deafness-causing mutations in Myo7a CMF. Taken together, these findings suggest that binding to PDZ domains, such as those from USH1C, PDZD7, and Whirlin, is a common property of CMFs of Myo7a, Myo7b, and Myo15a.
      Title: Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins.
    2. Data revealed that six polymorphisms of F10, PITRM1, PCSK2, JPH3, MYO7B, and AKAP12 were related (P<0.05) to the prevalence of chronic kidney disease.
      Title: Association of gene polymorphisms with chronic kidney disease in Japanese individuals.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study.
    EBI GWAS Catalog

    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

    Homology

    Clone Names

    • DKFZp686A08248

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin filament-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in brush border assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in brush border assembly IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sensory organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in apical cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in brush border IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in microvillus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microvillus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of myosin complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    unconventional myosin-VIIb

    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

    1. NG_052848.1 RefSeqGene

      Range
      4995..107038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080527.2 → NP_001073996.1  unconventional myosin-VIIb isoform 2

      See identical proteins and their annotated locations for NP_001073996.1

      Status: REVIEWED

      Source sequence(s)
      AC010976
      Consensus CDS
      CCDS46405.1
      UniProtKB/Swiss-Prot
      Q14786, Q6PIF6, Q8TEE1
      Related
      ENSP00000415090.1, ENST00000428314.5
      Conserved Domains (9) summary
      smart00015
      Location:785 → 807
      IQ; Calmodulin-binding motif
      smart00139
      Location:1644 → 1791
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00242
      Location:60 → 759
      MYSc; Myosin. Large ATPases
      smart00295
      Location:1800 → 2012
      B41; Band 4.1 homologues
      cd13198
      Location:1406 → 1502
      FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
      cd13199
      Location:2008 → 2103
      FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
      cd01381
      Location:79 → 748
      MYSc_Myo7; class VII myosin, motor domain
      pfam00373
      Location:1910 → 2012
      FERM_M; FERM central domain
      cl17036
      Location:1503 → 1563
      SH3; Src Homology 3 domain superfamily

    2. NM_001393586.1 → NP_001380515.1  unconventional myosin-VIIb isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC010976
      Consensus CDS
      CCDS92860.1
      UniProtKB/TrEMBL
      A0A8C8KL71
      Related
      ENSP00000386461.3, ENST00000409816.8
      Conserved Domains (9) summary
      smart00015
      Location:785 → 807
      IQ; Calmodulin-binding motif
      smart00139
      Location:1670 → 1817
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00295
      Location:1826 → 2038
      B41; Band 4.1 homologues
      cd13198
      Location:1432 → 1528
      FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
      cd13199
      Location:2034 → 2129
      FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
      cd01381
      Location:79 → 748
      MYSc_Myo7; class VII myosin, motor domain
      cd17092
      Location:1222 → 1320
      FERM1_F1_Myosin-VII; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain 1, F1 sub-domain, found in Myosin-VIIa, Myosin-VIIb, and similar proteins
      cd17093
      Location:1824 → 1921
      FERM2_F1_Myosin-VII; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain 2, F1 sub-domain, found in Myosin-VIIa, Myosin-VIIb, and similar proteins
      cl17036
      Location:1529 → 1589
      SH3; Src Homology 3 domain superfamily

    3. NM_001393594.1 → NP_001380523.1  unconventional myosin-VIIb isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC010976
      Consensus CDS
      CCDS92861.1
      UniProtKB/TrEMBL
      B0I1T4, B9A063
      Related
      ENSP00000386850.1, ENST00000409090.1
      Conserved Domains (8) summary
      smart00139
      Location:497 → 644
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00295
      Location:653 → 865
      B41; Band 4.1 homologues
      cd13198
      Location:259 → 355
      FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
      cd13199
      Location:861 → 956
      FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
      cd17092
      Location:49 → 147
      FERM1_F1_Myosin-VII; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain 1, F1 sub-domain, found in Myosin-VIIa, Myosin-VIIb, and similar proteins
      cd17093
      Location:651 → 748
      FERM2_F1_Myosin-VII; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain 2, F1 sub-domain, found in Myosin-VIIa, Myosin-VIIb, and similar proteins
      cl02480
      Location:1 → 45
      MyTH4; MyTH4 domain
      cl17036
      Location:356 → 416
      SH3; Src Homology 3 domain superfamily

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      127535683..127637726
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444437.1 → XP_047300393.1  unconventional myosin-VIIb isoform X3

    2. XM_011511218.3 → XP_011509520.1  unconventional myosin-VIIb isoform X6

      Conserved Domains (9) summary
      smart00015
      Location:785 → 807
      IQ; Calmodulin-binding motif
      smart00139
      Location:1673 → 1820
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00242
      Location:60 → 759
      MYSc; Myosin. Large ATPases
      smart00295
      Location:1829 → 2041
      B41; Band 4.1 homologues
      cd13198
      Location:1435 → 1531
      FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
      cd13199
      Location:2037 → 2132
      FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
      cd01381
      Location:79 → 748
      MYSc_Myo7; class VII myosin, motor domain
      pfam00373
      Location:1939 → 2041
      FERM_M; FERM central domain
      cl17036
      Location:1532 → 1592
      SH3; Src Homology 3 domain superfamily

    3. XM_047444435.1 → XP_047300391.1  unconventional myosin-VIIb isoform X1

    4. XM_017004169.2 → XP_016859658.1  unconventional myosin-VIIb isoform X5

    5. XM_047444436.1 → XP_047300392.1  unconventional myosin-VIIb isoform X2

    6. XM_047444439.1 → XP_047300395.1  unconventional myosin-VIIb isoform X7

    7. XM_047444438.1 → XP_047300394.1  unconventional myosin-VIIb isoform X4

    8. XM_047444441.1 → XP_047300397.1  unconventional myosin-VIIb isoform X9

      Related
      ENST00000491278.5

    9. XM_047444440.1 → XP_047300396.1  unconventional myosin-VIIb isoform X8

    RNA

    1. XR_001738748.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      127970920..128072980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342163.1 → XP_054198138.1  unconventional myosin-VIIb isoform X3

    2. XM_054342166.1 → XP_054198141.1  unconventional myosin-VIIb isoform X6

    3. XM_054342161.1 → XP_054198136.1  unconventional myosin-VIIb isoform X1

    4. XM_054342165.1 → XP_054198140.1  unconventional myosin-VIIb isoform X5

    5. XM_054342162.1 → XP_054198137.1  unconventional myosin-VIIb isoform X2

    6. XM_054342167.1 → XP_054198142.1  unconventional myosin-VIIb isoform X7

    7. XM_054342164.1 → XP_054198139.1  unconventional myosin-VIIb isoform X4

    8. XM_054342169.1 → XP_054198144.1  unconventional myosin-VIIb isoform X9

    9. XM_054342168.1 → XP_054198143.1  unconventional myosin-VIIb isoform X8

    RNA

    1. XR_008486372.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_183371.1: Suppressed sequence

      Description
      NM_183371.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PIF6.2 GenPept UniProtKB/Swiss-Prot:Q6PIF6

    Gene LinkOut

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

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