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

TBC1D8B - TBC1 domain family member 8B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as NPHS20; GRAMD8B

Gene ID: 54885 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

GRAM

GRAM: GRAM domain (146 - 211)

GRAM

GRAM: GRAM domain (285 - 351)

RabGAP-TBC

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

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  • 1120 a.a.
Protein Preferred Names Protein Names

TBC1 domain family member 8B

RP11-321G1.1

Related Diseases

Diseases Alias
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
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS14248 TBC1D8B Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source 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