2. Gene
  3. MYO7B - myosin VIIB Gene

MYO7B - myosin VIIB Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：肌球蛋白 VIIB

种属: Homo sapiens

基因 ID: 4648 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质存在于肠道和肾脏上皮细胞的刷状缘微绒毛中。编码的蛋白质参与将原钙粘蛋白连接到肌动蛋白细胞骨架，并且对于适当的微绒毛功能至关重要。这种蛋白质有助于 harmonin 和 ANKS4B 等微绒毛间粘附成分的积累，这种积累是正常刷状缘作用所必需的。[RefSeq 提供，2017 年 1 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
24725409 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in brush border assembly IDA
IDA: 通过直接分析推断
32209652 GOA
involved in brush border assembly IPI
IPI: 通过物理相互作用推断
24725409 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in brush border IDA
IDA: 通过直接分析推断
24725409 GOA
located in microvillus IDA
IDA: 通过直接分析推断
24725409 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MYO7B 蛋白结构

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.
蛋白主名 其他名称

unconventional myosin-VIIb

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08951 MYO7B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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