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TBC1D8B - TBC1 domain family member 8B Gene

Also Known as NPHS20; GRAMD8B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54885

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30661770	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glomerular filtration	IMP IMP: Inferred from mutant phenotype	30661770	GOA
involved in vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	30661770	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytosol	IDA IDA: Inferred from direct assay	30661770	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

TBC1D8B Protein Structure

GRAM

RabGAP-TBC

0
200
400
600
800
1000
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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14248	TBC1D8B Human Pre-designed siRNA Set A	Pre-designed Set	/	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