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TBC1D8B TBC1 domain family member 8B [ Homo sapiens (human) ]

Gene ID: 54885, updated on 16-Apr-2024

Summary

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Official Symbol
TBC1D8Bprovided by HGNC
Official Full Name
TBC1 domain family member 8Bprovided by HGNC
Primary source
HGNC:HGNC:24715
See related
Ensembl:ENSG00000133138 MIM:301027; AllianceGenome:HGNC:24715
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NPHS20; GRAMD8B
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]
Expression
Broad expression in adrenal (RPKM 10.0), thyroid (RPKM 3.7) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
Xq22.3
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (106802673..106876150)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (105239191..105312658)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (106045903..106119380)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RPA1 related single stranded DNA binding protein, X-linked Neighboring gene uncharacterized LOC124905235 Neighboring gene ring finger protein 128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:105969778-105970366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106137885-106138409 Neighboring gene ripply transcriptional repressor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106176295-106176796 Neighboring gene claudin 2 Neighboring gene Sharpr-MPRA regulatory region 10711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106209370-106209870 Neighboring gene MORC family CW-type zinc finger 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20926

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. TBC1D8B, a GTPase-activating protein, is a novel apoptosis inducer. Okada J, et al. Biomed Res, 2021. PMID 34092754
  2. TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. Kampf LL, et al. J Am Soc Nephrol, 2019 Dec. PMID 31732614, Free PMC Article
  3. TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. Dorval G, et al. Am J Hum Genet, 2019 Feb 7. PMID 30661770, Free PMC Article
  4. Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. Whitcomb DC, et al. Nat Genet, 2012 Dec. PMID 23143602, Free PMC Article
  5. Genetic Steroid-Resistant Nephrotic Syndrome Overview. Adam MP, et al. , 1993. PMID 34436835

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A human-specific insertion promotes cell proliferation and migration by enhancing TBC1D8B expression.
    Title: A human-specific insertion promotes cell proliferation and migration by enhancing TBC1D8B expression.
  2. TBC1D8B, a GTPase-activating protein, is a novel apoptosis inducer.
    Title: TBC1D8B, a GTPase-activating protein, is a novel apoptosis inducer.
  3. TBC1D8B mutations were found in 5 families with nephrotic syndrome: 2 premature stop codons (c.1030C>T, p.Arg344* and c.1383G>A, p.Trp461*), 3 missense mutations (c.2338A>T, p.Thr780Ser, c.1316T>G, p.Phe439Cys, and c.190C>T, p.Arg64Cys). TBC1D8B plays a regulatory role by inhibiting endogenous RAB11. It interacts with nephrin.
    Title: TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.
  4. results confirmed that pathogenic variations in TBC1D8B are involved in X-linked podocytopathy and points to alterations in recycling processes as a mechanism of steroid-resistant nephrotic syndrome
    Title: TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Nephrotic syndrome, type 20
MedGen: C5193011 OMIM: 301028 GeneReviews: Genetic Steroid-Resistant Nephrotic Syndrome Overview
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EBI GWAS Catalog

Description
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20298

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glomerular filtration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
TBC1 domain family member 8B
Names
RP11-321G1.1
TBC1 domain family, member 8B (with GRAM domain)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021284.1 RefSeqGene

    Range
    4985..78462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017752.3 → NP_060222.2  TBC1 domain family member 8B isoform a

    See identical proteins and their annotated locations for NP_060222.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB449890, AL391315, AL591849, BQ014086
    Consensus CDS
    CCDS14522.1
    UniProtKB/Swiss-Prot
    B9A6K5, B9A6K6, Q0IIM8, Q5JRB7, Q6ZVX5, Q9NXE3
    UniProtKB/TrEMBL
    J3KN75
    Related
    ENSP00000349781.5, ENST00000357242.10
    Conserved Domains (3) summary
    smart00164
    Location:486 → 694
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13352
    Location:296 → 388
    PH-GRAM2_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
    cd13350
    Location:156 → 254
    PH-GRAM1_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1

  2. NM_198881.2 → NP_942582.1  TBC1 domain family member 8B isoform b

    See identical proteins and their annotated locations for NP_942582.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several exons and includes an alternate 3_ terminal exon, compared to variant 1. It encodes isoform b which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AL391315, BC122564, CB243872
    Consensus CDS
    CCDS14523.1
    UniProtKB/Swiss-Prot
    Q0IIM8
    Related
    ENSP00000310675.2, ENST00000310452.6
    Conserved Domains (3) summary
    smart00164
    Location:486 → 608
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13352
    Location:296 → 388
    PH-GRAM2_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
    cd13350
    Location:156 → 254
    PH-GRAM1_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    106802673..106876150
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724669.2 → XP_006724732.1  TBC1 domain family member 8B isoform X1

    UniProtKB/TrEMBL
    J3KN75
    Conserved Domains (3) summary
    smart00164
    Location:436 → 644
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13352
    Location:296 → 388
    PH-GRAM2_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
    cd13350
    Location:156 → 254
    PH-GRAM1_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1

  2. XM_006724670.5 → XP_006724733.1  TBC1 domain family member 8B isoform X2

    UniProtKB/TrEMBL
    J3KN75
    Conserved Domains (3) summary
    smart00164
    Location:388 → 596
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13352
    Location:198 → 290
    PH-GRAM2_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
    cd13350
    Location:58 → 156
    PH-GRAM1_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1

  3. XM_047442229.1 → XP_047298185.1  TBC1 domain family member 8B isoform X3

RNA

  1. XR_001755701.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    105239191..105312658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327336.1 → XP_054183311.1  TBC1 domain family member 8B isoform X1

  2. XM_054327338.1 → XP_054183313.1  TBC1 domain family member 8B isoform X3

  3. XM_054327337.1 → XP_054183312.1  TBC1 domain family member 8B isoform X2

RNA

  1. XR_008485485.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q0IIM8.2 GenPept UniProtKB/Swiss-Prot:Q0IIM8

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