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MYO7B myosin VIIB [ Homo sapiens (human) ]

Gene ID: 4648, updated on 16-Oct-2021

Summary

Official Symbol
MYO7Bprovided by HGNC
Official Full Name
myosin VIIBprovided by HGNC
Primary source
HGNC:HGNC:7607
See related
Ensembl:ENSG00000169994 MIM:606541
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
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Genomic context

See MYO7B in Genome Data Viewer
Location:
2q14.3
Exon count:
48
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (127535683..127637726)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (128293259..128395301)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373608 Neighboring gene RNA, U4 small nuclear 48, pseudogene Neighboring gene interacts with SUPT6H, CTD assembly factor 1 Neighboring gene uncharacterized LOC105373609 Neighboring gene uncharacterized LOC101927834 Neighboring gene LIM zinc finger domain containing 2 Neighboring gene G protein-coupled receptor 17 Neighboring gene SFT2 domain containing 3 Neighboring gene WD repeat domain 33

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables microfilament motor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
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 sensory organ development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in vesicle transport along actin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
is_active_in microvillus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in microvillus IDA
Inferred from Direct Assay
more info
PubMed 
part_of myosin complex IEA
Inferred from Electronic Annotation
more info
 
is_active_in vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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
    5114..107040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080527.2NP_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
    Q6PIF6
    Related
    ENSP00000415090.1, ENST00000428314.5
    Conserved Domains (9) summary
    smart00015
    Location:785807
    IQ; Calmodulin-binding motif
    smart00139
    Location:16441791
    MyTH4; Domain in Myosin and Kinesin Tails
    smart00242
    Location:60759
    MYSc; Myosin. Large ATPases
    smart00295
    Location:18002012
    B41; Band 4.1 homologues
    cd13198
    Location:14061502
    FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
    cd13199
    Location:20082103
    FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
    cd01381
    Location:79748
    MYSc_Myo7; class VII myosin, motor domain
    pfam00373
    Location:19102012
    FERM_M; FERM central domain
    cl17036
    Location:15031563
    SH3; Src Homology 3 domain superfamily
  2. NM_001393586.1NP_001380515.1  unconventional myosin-VIIb isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC010976
    Related
    ENSP00000386461.3, ENST00000409816.7
    Conserved Domains (9) summary
    smart00015
    Location:785807
    IQ; Calmodulin-binding motif
    smart00139
    Location:16701817
    MyTH4; Domain in Myosin and Kinesin Tails
    smart00295
    Location:18262038
    B41; Band 4.1 homologues
    cd13198
    Location:14321528
    FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
    cd13199
    Location:20342129
    FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
    cd01381
    Location:79748
    MYSc_Myo7; class VII myosin, motor domain
    cd17092
    Location:12221320
    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:18241921
    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:15291589
    SH3; Src Homology 3 domain superfamily
  3. NM_001393594.1NP_001380523.1  unconventional myosin-VIIb isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC010976
    Related
    ENSP00000386850.1, ENST00000409090.1
    Conserved Domains (8) summary
    smart00139
    Location:497644
    MyTH4; Domain in Myosin and Kinesin Tails
    smart00295
    Location:653865
    B41; Band 4.1 homologues
    cd13198
    Location:259355
    FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
    cd13199
    Location:861956
    FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
    cd17092
    Location:49147
    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:651748
    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:145
    MyTH4; MyTH4 domain
    cl17036
    Location:356416
    SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011511218.2XP_011509520.1  unconventional myosin-VIIb isoform X2

    Conserved Domains (9) summary
    smart00015
    Location:785807
    IQ; Calmodulin-binding motif
    smart00139
    Location:16731820
    MyTH4; Domain in Myosin and Kinesin Tails
    smart00242
    Location:60759
    MYSc; Myosin. Large ATPases
    smart00295
    Location:18292041
    B41; Band 4.1 homologues
    cd13198
    Location:14351531
    FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
    cd13199
    Location:20372132
    FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
    cd01381
    Location:79748
    MYSc_Myo7; class VII myosin, motor domain
    pfam00373
    Location:19392041
    FERM_M; FERM central domain
    cl17036
    Location:15321592
    SH3; Src Homology 3 domain superfamily
  2. XM_017004169.1XP_016859658.1  unconventional myosin-VIIb isoform X1

RNA

  1. XR_001738748.1 RNA Sequence

  2. XR_001738749.1 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.
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