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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
  • GC06P038428
  • GC06P039019
  • GC06P039606

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).

Additional gene information for TBC1D22B Gene

No data available for Entrez Gene Summary , CIViC 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
GH06H037133 2 FANTOM5 Ensembl ENCODE dbSUPER 24.3 -119.3 -119335 9 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS CMTR1 TBC1D22B BRPF3 PIM1 COX6A1P2 SRSF3 FGD2 PPIL1 RAB44 C6orf89
GH06H036592 3 FANTOM5 Ensembl ENCODE dbSUPER 14 -660.3 -660286 10 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A SRSF3 KCTD20 CDKN1A LAP3P2 RAB44 STK38 ENSG00000237719 FKBP5 BRPF3 RNU1-88P
GH06H037109 1.9 FANTOM5 Ensembl ENCODE dbSUPER 18 -147.3 -147304 2 FOXA2 MLX ARNT ARID4B SLC30A9 ZNF766 SP5 JUNB REST ZNF592 TBC1D22B FGD2 MTCH1 PIM1 C6orf89 GC06P041734 RPL12P2
GH06H036983 1.4 ENCODE dbSUPER 20.2 -272.0 -271964 3 HDGF MLX ARNT ARID4B SIN3A DMAP1 YBX1 YY1 ZNF416 ZNF143 CMTR1 SRSF3 BRPF3 TBC1D22B LAP3P2 RNU1-88P RN7SL285P RN7SL502P ENSG00000237719 RNF8
GH06H037201 1.3 ENCODE dbSUPER 21.3 -54.1 -54114 3 HDGF PKNOX1 FOXA2 ARNT YBX1 FEZF1 ZNF207 FOS MCM3 MCM5 SRSF3 STK38 PIM1 TBC1D22B CMTR1 CDKN1A RAB44 COX6A1P2 PIR49359
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000196378 396 1801 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

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

Gene Families for TBC1D22B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TBC1D22B Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for TBC1D22B Gene

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

  • Applied Biological Materials Clones for TBC1D22B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 TBC1D22B gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

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

mRNA/cDNA for TBC1D22B Gene

Unigene Clusters for TBC1D22B Gene

TBC1 domain family, member 22B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TBC1D22B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for TBC1D22B Gene

  • Nervous system(4.7)
  • Liver(4.1)
  • Lung(4.1)
  • Bone(4)
genes like me logo Genes that share expression patterns with TBC1D22B: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia TBC1D22B 33 34
  • 93.7 (n)
cow
(Bos Taurus)
Mammalia TBC1D22B 33 34
  • 93.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D22B 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d22b 33
  • 90.43 (n)
mouse
(Mus musculus)
Mammalia Tbc1d22b 33 16 34
  • 89.5 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D22B 34
  • 27 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D22B 33 34
  • 81.65 (n)
lizard
(Anolis carolinensis)
Reptilia TBC1D22B 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d22b 33
  • 74.32 (n)
zebrafish
(Danio rerio)
Actinopterygii tbc1d22b 34
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5745 33 34
  • 55.51 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004522 33
  • 53.39 (n)
worm
(Caenorhabditis elegans)
Secernentea tbc-3 33 34
  • 56.56 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP1 34 36
  • 29 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G30710 33
  • 56.15 (n)
rice
(Oryza sativa)
Liliopsida Os09g0515800 33
  • 56.15 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gyp1 33
  • 52.12 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04241 33
  • 51.85 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3104 33
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
rs1000035975 -- 37,304,969(+) TGAGC(C/T)GCCTT intron-variant
rs1000066826 -- 37,270,941(+) GGGGT(A/G)GGGTT intron-variant
rs1000100958 -- 37,303,653(+) TGGCA(C/T)GTAAA intron-variant
rs1000305965 -- 37,298,667(+) CAGCC(C/T)CCCGA intron-variant
rs1000358432 -- 37,284,959(+) CTGTT(C/T)TGGCA intron-variant

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 AL … DeRisi JL (mBio 2013) 3 4 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  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 to cells : devoted to molecular & cellular mechanisms 2009) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for TBC1D22B Gene

Sources for TBC1D22B Gene

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