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] See more...

Aliases for TBC1D8B Gene

Aliases for TBC1D8B Gene

  • TBC1 Domain Family Member 8B 2 3 4 5
  • TBC1 Domain Family, Member 8B (With GRAM Domain) 2 3
  • RP11-321G1.1 2 3
  • GRAMD8B 2 3
  • FLJ20298 2
  • TBC1D8B 5
  • NPHS20 3

External Ids for TBC1D8B Gene

Previous GeneCards Identifiers for TBC1D8B Gene

  • GC0XP105932
  • GC0XP106045
  • GC0XP095673

Summaries for TBC1D8B Gene

Entrez Gene Summary for TBC1D8B Gene

  • 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]

GeneCards Summary for TBC1D8B Gene

TBC1D8B (TBC1 Domain Family Member 8B) is a Protein Coding gene. Diseases associated with TBC1D8B include Nephrotic Syndrome, Type 20 and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include calcium ion binding and GTPase activator activity. An important paralog of this gene is TBC1D8.

UniProtKB/Swiss-Prot Summary for TBC1D8B Gene

  • Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein.

Additional gene information for TBC1D8B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D8B Gene

Genomics for TBC1D8B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBC1D8B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ106801 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 604.8 +0.2 227 2.6 CREB1 PRDM10 SIX5 ZNF143 PATZ1 ZNF740 SP1 ELF4 GABPA ZNF600 TBC1D8B RNF128 MORC4 RBM41 NONHSAG055066.2 CLDN2
GH0XJ106725 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 11.5 -73.6 -73649 6.5 GATAD2A PRDM10 ZNF692 PRDM1 ZIC2 RBFOX2 POLR2A IRF2 SP1 EZH2 RNF128 RADX TBC1D8B piR-55194-453
GH0XJ106779 Enhancer 0.8 Ensembl ENCODE 8 -21.6 -21620 3.5 SP1 CEBPA SCRT2 CEBPB YY1 SCRT1 SAP130 RAD21 TFAP4 HNF4A TBC1D8B piR-55194-453 RNF128
GH0XJ107720 Promoter/Enhancer 1 Ensembl dbSUPER 5.8 +918.9 918928 1.2 IKZF2 EED DPF2 RELB RUNX3 WT1 IKZF1 SPI1 IRF4 EBF1 TSC22D3 TBC1D8B MF281437-054 lnc-TEX13B-3 NCBP2L PRPS1 RF00017-8611
GH0XJ106927 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 3.7 +128.2 128193 7.7 RBFOX2 SP1 SOX13 CEBPB TCF7 HES1 NR3C1 ATF3 FOS YY1 piR-54892 CLDN2 RIPPLY1 MYCLP1 TBC1D8B piR-47162-191 MORC4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D8B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D8B

Top Transcription factor binding sites by QIAGEN in the TBC1D8B gene promoter:
  • AP-1
  • E47
  • E4BP4
  • Evi-1
  • Hand1
  • HFH-1
  • Pax-2
  • Pax-2a
  • Pax-2b
  • Spz1

Genomic Locations for TBC1D8B Gene

Genomic Locations for TBC1D8B Gene
chrX:106,802,673-106,876,150
(GRCh38/hg38)
Size:
73,478 bases
Orientation:
Plus strand
chrX:106,045,910-106,119,380
(GRCh37/hg19)
Size:
73,471 bases
Orientation:
Plus strand

Genomic View for TBC1D8B Gene

Genes around TBC1D8B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D8B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D8B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D8B Gene

Proteins for TBC1D8B Gene

  • Protein details for TBC1D8B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0IIM8-TBC8B_HUMAN
    Recommended name:
    TBC1 domain family member 8B
    Protein Accession:
    Q0IIM8
    Secondary Accessions:
    • B9A6K5
    • B9A6K6
    • Q5JRB7
    • Q6ZVX5
    • Q9NXE3

    Protein attributes for TBC1D8B Gene

    Size:
    1120 amino acids
    Molecular mass:
    128709 Da
    Quaternary structure:
    • Interacts (via domain Rab-GAP TBC) with RAB11B (in GTP-bound form).
    SequenceCaution:
    • Sequence=BAA91071.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D8B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D8B Gene

Post-translational modifications for TBC1D8B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TBC1D8B Gene

Domains & Families for TBC1D8B Gene

Gene Families for TBC1D8B Gene

Suggested Antigen Peptide Sequences for TBC1D8B Gene

GenScript: Design optimal peptide antigens:
  • TBC1 domain family, member 8B (B9A6K5_HUMAN)
  • TBC1 domain family, member 8B (With GRAM domain) (Q5JSK2_HUMAN)
  • TBC1 domain family member 8B (TBC8B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q0IIM8

UniProtKB/Swiss-Prot:

TBC8B_HUMAN :
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
Domain:
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
genes like me logo Genes that share domains with TBC1D8B: view

Function for TBC1D8B Gene

Molecular function for TBC1D8B Gene

UniProtKB/Swiss-Prot Function:
Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein.

Phenotypes From GWAS Catalog for TBC1D8B Gene

Gene Ontology (GO) - Molecular Function for TBC1D8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 30661770
GO:0017137 Rab GTPase binding IBA 21873635
genes like me logo Genes that share ontologies with TBC1D8B: view
genes like me logo Genes that share phenotypes with TBC1D8B: view

Human Phenotype Ontology for TBC1D8B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D8B

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D8B Gene

Localization for TBC1D8B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D8B Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D8B gene
Compartment Confidence
cytosol 5
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBC1D8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,IDA 30661770
genes like me logo Genes that share ontologies with TBC1D8B: view

Pathways & Interactions for TBC1D8B Gene

genes like me logo Genes that share pathways with TBC1D8B: view

Gene Ontology (GO) - Biological Process for TBC1D8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003094 glomerular filtration IMP 30661770
GO:0006886 intracellular protein transport IBA 21873635
GO:0016192 vesicle-mediated transport IMP 30661770
GO:0090630 activation of GTPase activity IBA 21873635
genes like me logo Genes that share ontologies with TBC1D8B: view

No data available for SIGNOR curated interactions for TBC1D8B Gene

Drugs & Compounds for TBC1D8B Gene

No Compound Related Data Available

Transcripts for TBC1D8B Gene

mRNA/cDNA for TBC1D8B Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D8B

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D8B Gene

No ASD Table

Relevant External Links for TBC1D8B Gene

GeneLoc Exon Structure for
TBC1D8B

Expression for TBC1D8B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBC1D8B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBC1D8B Gene

This gene is overexpressed in Adrenal Gland (x6.0).

Protein differential expression in normal tissues from HIPED for TBC1D8B Gene

This gene is overexpressed in Cerebrospinal fluid (44.2) and Bone (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TBC1D8B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D8B

SOURCE GeneReport for Unigene cluster for TBC1D8B Gene:

Hs.351798

mRNA Expression by UniProt/SwissProt for TBC1D8B Gene:

Q0IIM8-TBC8B_HUMAN
Tissue specificity: Kidney (at protein level).

Evidence on tissue expression from TISSUES for TBC1D8B Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with TBC1D8B: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D8B Gene

Orthologs for TBC1D8B Gene

This gene was present in the common ancestor of chordates.

Orthologs for TBC1D8B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TBC1D8B 30 31
  • 99.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 31
  • 95 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia TBC1D8B 30 31
  • 91.99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tbc1d8b 30
  • 89.77 (n)
Mouse
(Mus musculus)
Mammalia Tbc1d8b 30 17 31
  • 89.44 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D8B 31
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TBC1D8B 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TBC1D8B 30 31
  • 76.61 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TBC1D8B 31
  • 71 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii TBC1D8B 31
  • 64 (a)
OneToOne
si:dkey-110k5.6 30
  • 63.89 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4953 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3902 31
  • 33 (a)
OneToMany
Species where no ortholog for TBC1D8B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TBC1D8B Gene

ENSEMBL:
Gene Tree for TBC1D8B (if available)
TreeFam:
Gene Tree for TBC1D8B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TBC1D8B: view image

Paralogs for TBC1D8B Gene

(9) SIMAP similar genes for TBC1D8B Gene using alignment to 6 proteins:

  • TBC8B_HUMAN
  • D6RC82_HUMAN
  • D6RFZ2_HUMAN
  • H0Y552_HUMAN
  • J3KN75_HUMAN
  • L8EAY1_HUMAN
genes like me logo Genes that share paralogs with TBC1D8B: view

Variants for TBC1D8B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D8B Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
635779 Likely Pathogenic: NEPHROTIC SYNDROME, TYPE 20 106,823,377(+) G/C MISSENSE_VARIANT
635780 Likely Pathogenic: NEPHROTIC SYNDROME, TYPE 20 106,826,074(+) T/C MISSENSE_VARIANT
rs483352744 Uncertain Significance: not provided 106,822,144(+) T/C SYNONYMOUS_VARIANT
rs761410195 Nephrotic syndrome 20 (NPHS20) [MIM:301028] p.Gln246His
VAR_082287 Nephrotic syndrome 20 (NPHS20) [MIM:301028] p.Phe291Ser

Additional dbSNP identifiers (rs#s) for TBC1D8B Gene

Structural Variations from Database of Genomic Variants (DGV) for TBC1D8B Gene

Variant ID Type Subtype PubMed ID
esv2740375 CNV deletion 23290073
esv2752312 CNV gain 17911159

Variation tolerance for TBC1D8B Gene

Residual Variation Intolerance Score: 41.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.77; 33.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBC1D8B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D8B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D8B Gene

Disorders for TBC1D8B Gene

MalaCards: The human disease database

(3) MalaCards diseases for TBC1D8B Gene - From: UniProtKB/Swiss-Prot, OMIM, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 20
  • nphs20
genetic steroid-resistant nephrotic syndrome
  • nephrotic syndrome, steroid-resistant, autosomal recessive
nephrotic syndrome
  • finnish congenital nephrotic syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TBC8B_HUMAN
  • Nephrotic syndrome 20 (NPHS20) [MIM:301028]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS20 is an X-linked, steroid-resistant form with onset at birth or in the first years of life in affected males. Death in childhood may occur in absence of renal transplantation. Carrier females may be unaffected or have a mild disease with proteinuria. {ECO:0000269 PubMed:30661770}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with TBC1D8B: view

No data available for Genatlas for TBC1D8B Gene

Publications for TBC1D8B Gene

  1. TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. (PMID: 30661770) Dorval G … Antignac C (American journal of human genetics 2019) 3 4
  2. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K … Fukuda M (Genes to cells : devoted to molecular & cellular mechanisms 2009) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 2 3
  5. ATG5 is required for B cell polarization and presentation of particulate antigens. (PMID: 30196744) Arbogast F … Gros F (Autophagy 2019) 3

Products for TBC1D8B Gene

Sources for TBC1D8B Gene