MYO7B - myosin VIIB Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4648

About MYO7B

Cytogenetic location: 2q14.3 Genomic coordinates (GRCh38): 2:127,535,683-127,637,726 (from NCBI)

This gene has 7 transcripts (splice variants), 257 orthologues and 43 paralogues. Biased expression in duodenum (RPKM 42.9), small intestine (RPKM 30.6) and 5 other tissues.

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]

MYO7B Products (3)

mRNA Protein Name
NM_001080527.2 NP_001073996.1 unconventional myosin-VIIb isoform 2
NM_001393586.1 NP_001380515.1 unconventional myosin-VIIb isoform 1
NM_001393594.1 NP_001380523.1 unconventional myosin-VIIb isoform 3
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
24725409 GOA
Biological Process GO Annotation Evidence References Source
involved in brush border assembly IDA
IDA: Inferred from direct assay
32209652 GOA
involved in brush border assembly IPI
IPI: Inferred from physical interaction
24725409 GOA
Cellular Component GO Annotation Evidence References Source
located in brush border IDA
IDA: Inferred from direct assay
24725409 GOA
located in microvillus IDA
IDA: Inferred from direct assay
24725409 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYO7B Protein Structure

Myosin_head

Myosin_head: Myosin head (motor domain) (67 - 748)

IQ

IQ: IQ calmodulin-binding motif (765 - 783)

IQ

IQ: IQ calmodulin-binding motif (787 - 807)

IQ

IQ: IQ calmodulin-binding motif (836 - 852)

IQ

IQ: IQ calmodulin-binding motif (856 - 876)

MyTH4

MyTH4: MyTH4 domain (1088 - 1192)

SH3_2

SH3_2: Variant SH3 domain (1508 - 1562)

MyTH4

MyTH4: MyTH4 domain (1690 - 1792)

FERM_M

FERM_M: FERM central domain (1906 - 2012)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2116 a.a.
Protein Preferred Names Protein Names

unconventional myosin-VIIb

Related Diseases

Diseases Alias
Microvillus Inclusion Disease
  • Congenital Microvillous Atrophy

  • Intractable Diarrhea Of Infancy

  • Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities

  • Davidson Disease

  • Microvillous Inclusion Disease

  • Congenital Microvillus Atrophy

  • Mvid

  • Diarrhea 2 With Microvillus Atrophy

  • Mvd

  • Congenital Familial Protracted Diarrhea

  • Davidson'S Disease

  • Familial Enteropathy, Microvillus

  • Microvillus Atrophy, Congenital

  • Congenital Enteropathy

  • Familial Protracted Enteropathy

  • Microvillous Atrophy

  • Microvillus Atrophy With Diarrhea 2

  • Idi

Usher Syndrome, Type Id
  • Usher Syndrome Type 1d

  • USH1D

  • Usher Syndrome, Type 1d

  • Usher Syndrome Type Id

  • Usher Syndrome, Type Id/F, Digenic

  • Usher Syndrome, Type 1d/F Digenic

  • Usher Syndrome 1d

  • Usher'S Syndrome Type 1d

  • Usher Syndrome 1d/F

  • USH1DF

  • Ush1d/F

  • Usher'S Syndrome Type 1h

  • Usher Syndrome 1h

  • Usher Syndrome Type Ih

  • Usher Syndrome, Type 1d/F

Usher Syndrome, Type I
  • USH1

  • Usher Syndrome Type 1

  • Us1

  • Usher Syndrome, Type 1b

  • Usher Syndrome Type 1e

  • Retinitis Pigmentosa And Congenital Deafness

  • Usher Syndrome, Type Ie

  • USH1E

  • Usher Syndrome, Type 1e

  • Usher Syndrome, Type 1a

  • Usher Syndrome, Type Ib

  • Usher Syndrome Type 1b

  • Usher Syndrome Type Ie

  • Usher Syndrome Type I

  • Usher 1

  • Usher Syndrome, Type 1

  • Ush1a

  • Usher Syndrome, Type I, French Variety

  • Usher Syndrome, Type Ia

  • Usher Syndrome 1b

  • USH1B

  • Usher'S Syndrome Type 1b

  • Usher Syndrome Type Ib

  • Ushib

Usher Syndrome
  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus MYO7B VGNC VGNC:31831
Macaca mulatta MYO7B VGNC VGNC:99385
Rattus norvegicus MYO7B RGD RGD:1561153
Felis catus MYO7B VGNC VGNC:68400
Mus musculus MYO7B MGD MGI:107709
Canis familiaris MYO7B VGNC VGNC:43573