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

    Gene ID: 54885, updated on 10-Dec-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
    mouse all
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    Genomic context

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    See TBC1D8B in Genome Data Viewer
    Location:
    Xq22.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (106802673..106876150)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (105239191..105312658)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A human-specific insertion promotes cell proliferation and migration by enhancing TBC1D8B expression. Zhao H, et al. Sci China Life Sci, 2024 Apr. PMID 38110796
    2. TBC1D8B, a GTPase-activating protein, is a novel apoptosis inducer. Okada J, et al. Biomed Res, 2021. PMID 34092754
    3. 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
    4. 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
    5. 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

    See all (17) 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
    		Compare labs

    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)

    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 glomerular filtration 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
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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_2024_08

    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

      UniProtKB/TrEMBL
      J3KN75

    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

      UniProtKB/TrEMBL
      J3KN75

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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