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Aliases for TBC1D22B Gene

Aliases for TBC1D22B Gene

  • TBC1 Domain Family Member 22B 2 3 5
  • C6orf197 3 4
  • Chromosome 6 Open Reading Frame 197 2
  • TBC1 Domain Family, Member 22B 2

External Ids for TBC1D22B Gene

Previous HGNC Symbols for TBC1D22B Gene

  • C6orf197

Previous GeneCards Identifiers for TBC1D22B Gene

  • GC06P037334
  • GC06P037225
  • GC06P036944
  • GC06P037847
  • GC06P037852

Summaries for TBC1D22B Gene

GeneCards Summary for TBC1D22B Gene

TBC1D22B (TBC1 Domain Family Member 22B) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D22A.

UniProtKB/Swiss-Prot for TBC1D22B Gene

  • May act as a GTPase-activating protein for Rab family protein(s).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D22B Gene

Genomics for TBC1D22B Gene

Regulatory Elements for TBC1D22B Gene

Enhancers for TBC1D22B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around TBC1D22B on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D22B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for TBC1D22B Gene

Chromosome:
6
Start:
37,257,704 bp from pter
End:
37,332,970 bp from pter
Size:
75,267 bases
Orientation:
Plus strand

Genomic View for TBC1D22B Gene

Genes around TBC1D22B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D22B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D22B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D22B Gene

Proteins for TBC1D22B Gene

  • Protein details for TBC1D22B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NU19-TB22B_HUMAN
    Recommended name:
    TBC1 domain family member 22B
    Protein Accession:
    Q9NU19
    Secondary Accessions:
    • A8KA28
    • Q32MQ8
    • Q5VUK9
    • Q6P4C3
    • Q7Z6P7
    • Q9BPV6
    • Q9BUT5
    • Q9NXB6

    Protein attributes for TBC1D22B Gene

    Size:
    505 amino acids
    Molecular mass:
    59081 Da
    Quaternary structure:
    • Interacts with ACBD3 and ARFGEF1. Interacts with YWHAB, YWHAE, YWHAG, YWHAH, YWHAQ and YWHAZ.
    SequenceCaution:
    • Sequence=BAA91099.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TBC1D22B Gene

neXtProt entry for TBC1D22B Gene

Post-translational modifications for TBC1D22B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D22B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D22B Gene

Domains & Families for TBC1D22B Gene

Protein Domains for TBC1D22B Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NU19

UniProtKB/Swiss-Prot:

TB22B_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D22B: view

No data available for Gene Families for TBC1D22B Gene

Function for TBC1D22B Gene

Molecular function for TBC1D22B Gene

UniProtKB/Swiss-Prot Function:
May act as a GTPase-activating protein for Rab family protein(s).

Gene Ontology (GO) - Molecular Function for TBC1D22B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0005515 protein binding IPI 23572552
GO:0017137 Rab GTPase binding IBA --
GO:0071889 14-3-3 protein binding IDA 23572552
genes like me logo Genes that share ontologies with TBC1D22B: view

Phenotypes for TBC1D22B Gene

genes like me logo Genes that share phenotypes with TBC1D22B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D22B Gene

Localization for TBC1D22B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D22B Gene COMPARTMENTS Subcellular localization image for TBC1D22B gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TBC1D22B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0012505 endomembrane system IBA --
genes like me logo Genes that share ontologies with TBC1D22B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TBC1D22B Gene

Pathways & Interactions for TBC1D22B Gene

SuperPathways for TBC1D22B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D22B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0090630 activation of GTPase activity IBA --
GO:1902017 NOT regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D22B: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D22B Gene

Drugs & Compounds for TBC1D22B Gene

No Compound Related Data Available

Transcripts for TBC1D22B Gene

Unigene Clusters for TBC1D22B Gene

TBC1 domain family, member 22B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D22B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - -
SP2: -
SP3:
SP4:
SP5:
SP6: - -

Relevant External Links for TBC1D22B Gene

GeneLoc Exon Structure for
TBC1D22B
ECgene alternative splicing isoforms for
TBC1D22B

Expression for TBC1D22B Gene

mRNA expression in normal human tissues for TBC1D22B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TBC1D22B Gene

This gene is overexpressed in Bone (27.3), Pancreatic juice (25.3), and Testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D22B Gene



Protein tissue co-expression partners for TBC1D22B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBC1D22B Gene:

TBC1D22B

SOURCE GeneReport for Unigene cluster for TBC1D22B Gene:

Hs.731702
genes like me logo Genes that share expression patterns with TBC1D22B: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBC1D22B Gene

Orthologs for TBC1D22B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBC1D22B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D22B 35
  • 100 (a)
OneToOne
TBC1D22B 34
  • 99.8 (n)
  • 99.6 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D22B 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d22b 35
  • 99 (a)
OneToOne
Tbc1d22b 16
Tbc1d22b 34
  • 89.5 (n)
  • 98.81 (a)
oppossum
(Monodelphis domestica)
Mammalia TBC1D22B 35
  • 27 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D22B 35
  • 98 (a)
OneToOne
TBC1D22B 34
  • 93.7 (n)
  • 98.77 (a)
cow
(Bos Taurus)
Mammalia TBC1D22B 35
  • 99 (a)
OneToOne
TBC1D22B 34
  • 93.14 (n)
  • 98.61 (a)
rat
(Rattus norvegicus)
Mammalia Tbc1d22b 34
  • 90.43 (n)
  • 98.42 (a)
chicken
(Gallus gallus)
Aves TBC1D22B 35
  • 93 (a)
OneToOne
TBC1D22B 34
  • 81.65 (n)
  • 93.27 (a)
lizard
(Anolis carolinensis)
Reptilia TBC1D22B 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d22b 34
  • 74.32 (n)
  • 85.37 (a)
zebrafish
(Danio rerio)
Actinopterygii tbc1d22b 35
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5745 35
  • 42 (a)
OneToMany
CG5745 34
  • 55.51 (n)
  • 52.03 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004522 34
  • 53.39 (n)
  • 48.43 (a)
worm
(Caenorhabditis elegans)
Secernentea tbc-3 35
  • 48 (a)
OneToMany
tbc-3 34
  • 56.56 (n)
  • 54.29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP1 37
GYP1 35
  • 29 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G30710 34
  • 56.15 (n)
  • 50.62 (a)
rice
(Oryza sativa)
Liliopsida Os09g0515800 34
  • 56.15 (n)
  • 49.69 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gyp1 34
  • 52.12 (n)
  • 48.51 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04241 34
  • 51.85 (n)
  • 44.68 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3104 34
Species where no ortholog for TBC1D22B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBC1D22B Gene

ENSEMBL:
Gene Tree for TBC1D22B (if available)
TreeFam:
Gene Tree for TBC1D22B (if available)

Paralogs for TBC1D22B Gene

Paralogs for TBC1D22B Gene

(2) SIMAP similar genes for TBC1D22B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TBC1D22B: view

Variants for TBC1D22B Gene

Sequence variations from dbSNP and Humsavar for TBC1D22B Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs4711491 -- 37,325,698(+) GGGCA(C/T)GCCAT intron-variant, downstream-variant-500B
rs4711492 -- 37,325,769(+) GGTCG(C/T)GAACT intron-variant, downstream-variant-500B
rs4711493 -- 37,325,957(+) CTTAC(A/G)GCTAA intron-variant, downstream-variant-500B
rs4714053 -- 37,281,839(+) CTTTA(C/G)AGTCA intron-variant
rs4714054 -- 37,325,798(+) ACCCA(A/C)CTCTG intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for TBC1D22B Gene

Variant ID Type Subtype PubMed ID
esv2068563 CNV deletion 18987734
esv2669404 CNV deletion 23128226
esv2731932 CNV deletion 23290073
esv3567652 CNV deletion 23714750
nsv1015689 CNV gain 25217958
nsv1114797 CNV deletion 24896259
nsv521807 CNV loss 19592680
nsv956556 CNV deletion 24416366

Variation tolerance for TBC1D22B Gene

Residual Variation Intolerance Score: 9.36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.89; 18.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D22B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D22B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D22B Gene

Disorders for TBC1D22B Gene

Relevant External Links for TBC1D22B

Genetic Association Database (GAD)
TBC1D22B
Human Genome Epidemiology (HuGE) Navigator
TBC1D22B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D22B

No disorders were found for TBC1D22B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D22B Gene

Publications for TBC1D22B Gene

  1. ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding. (PMID: 23572552) Greninger A.L. … DeRisi J.L. (MBio 2013) 3 4 65
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  3. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K. … Fukuda M. (Genes Cells 2009) 3 4 65
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65

Products for TBC1D22B Gene

Sources for TBC1D22B Gene

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