2. Gene
  3. TBC1D8B - TBC1 domain family member 8B Gene

TBC1D8B - TBC1 domain family member 8B Gene

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

中文名称：TBC1 域家族成员 8B

种属: Homo sapiens

同用名: NPHS20; GRAMD8B

基因 ID: 54885 | 基因类型: protein coding

关于 TBC1D8B

Cytogenetic location: Xq22.3 Genomic coordinates (GRCh38): X:106,802,673-106,876,150 (from NCBI)

This gene has 7 transcripts (splice variants), 200 orthologues, 45 paralogues and is associated with 2 phenotypes. Broad expression in adrenal (RPKM 10.0), thyroid (RPKM 3.7) and 23 other tissues.

功能概要

该基因编码具有 TBC (Tre-2/Bub2/CDC16) 结构域的蛋白质。一些具有该结构域的哺乳动物蛋白已被证明通过与特定的 Rab 蛋白结合并影响它们的 GTP 酶活性来发挥 Rab-GAP 的作用。可变剪接导致多个转录本变体。[RefSeq 提供，2011 年 9 月]

This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

TBC1D8B 基因产物(2)

mRNA Protein Name
NM_017752.3 NP_060222.2 TBC1 domain family member 8B isoform a
NM_198881.2 NP_942582.1 TBC1 domain family member 8B isoform b

TBC1D8B 蛋白结构

GRAM

GRAM: GRAM domain (146 - 211)

GRAM

GRAM: GRAM domain (285 - 351)

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (491 - 694)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1120 a.a.
蛋白主名 其他名称

TBC1 domain family member 8B

RP11-321G1.1

关联疾病

疾病名称 别名
Nephrotic Syndrome, Type 20

NPHS20

Nephrotic Syndrome Type 20

Nephrotic Syndrome 20
Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis
Syndromic X-Linked Intellectual Disability Lubs Type

Lubs X-Linked Mental Retardation Syndrome

Mecp2 Duplication Syndrome

Mental Retardation, X-Linked, Syndromic, Lubs Type

Mental Retardation, X-Linked, With Recurrent Respiratory Infections

Mrxsl

X-Linked Intellectual Disability-Hypotonia-Recurrent Infections Syndrome

Mental Retardation, X-Linked Syndromic, Lubs Type
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome

Doors Syndrome

Digitorenocerebral Syndrome

Autosomal Recessive Deafness-Onychodystrophy Syndrome

Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome

DOORS

Drc Syndrome

Eronen Syndrome

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Brachydactyly Due To Absence Of Distal Phalanges

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome

Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome

Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome

Deafness, Congenital Onychodystrophy, Recessive Form

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified
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-RS14248 TBC1D8B 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 TBC1D8B VGNC VGNC:106968
Felis catus TBC1D8B VGNC VGNC:65990
Rattus norvegicus TBC1D8B RGD RGD:1563084
Mus musculus TBC1D8B MGD MGI:1918101
Macaca mulatta TBC1D8B VGNC VGNC:78204
Canis familiaris TBC1D8B VGNC VGNC:47152
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