Aliases for TBC1D22B Gene

Aliases for TBC1D22B Gene

  • TBC1 Domain Family Member 22B 2 3 4 5
  • C6orf197 3 4
  • Chromosome 6 Open Reading Frame 197 2
  • TBC1 Domain Family, Member 22B 2
  • DJ744I24.2 2
  • TBC1D22B 5
  • FLJ20337 2

External Ids for TBC1D22B Gene

Previous HGNC Symbols for TBC1D22B Gene

  • C6orf197

Previous GeneCards Identifiers for TBC1D22B Gene

  • GC06P037334
  • GC06P037225
  • GC06P036944
  • GC06P037847
  • GC06P042838
  • GC06P043187
  • GC06P043378
  • GC06P046067
  • GC06P037852
  • GC06P038428
  • GC06P039019
  • GC06P039606
  • GC06P040167
  • GC06P041248
  • GC06P041924
  • GC06P042567

Summaries for TBC1D22B Gene

GeneCards Summary for TBC1D22B Gene

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

UniProtKB/Swiss-Prot Summary for TBC1D22B Gene

Additional gene information for TBC1D22B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D22B Gene

Genomics for TBC1D22B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBC1D22B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D22B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D22B

Genomic Locations for TBC1D22B Gene

Genomic Locations for TBC1D22B Gene
chr6:37,257,772-37,332,970
(GRCh38/hg38)
Size:
75,199 bases
Orientation:
Plus strand
chr6:37,225,548-37,300,746
(GRCh37/hg19)
Size:
75,199 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:
  • RabGAP/TBC domain
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D22B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ77294, highly similar to Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA (A8KA28_HUMAN)
  • TBC1D22B protein (Q6P4C3_HUMAN)
  • TBC1 domain family member 22B (TB22B_HUMAN)
genes like me logo Genes that share domains with TBC1D22B: view

No data available for Graphical View of Domain Structure and 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 21873635
GO:0005515 protein binding IPI 23572552
GO:0017137 Rab GTPase binding IBA 21873635
GO:0071889 14-3-3 protein binding IDA 23572552
genes like me logo Genes that share ontologies with TBC1D22B: view
genes like me logo Genes that share phenotypes with TBC1D22B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D22B

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 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TBC1D22B Gene

Pathways & Interactions for TBC1D22B Gene

PathCards logo

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 21873635
GO:0090630 activation of GTPase activity IBA 21873635
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

1 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
1 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 TBC1D22B

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

Expression for TBC1D22B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TBC1D22B Gene



Protein tissue co-expression partners for TBC1D22B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D22B

SOURCE GeneReport for Unigene cluster for TBC1D22B Gene:

Hs.731702

Evidence on tissue expression from TISSUES for TBC1D22B Gene

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

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 30 31
  • 99.8 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TBC1D22B 30 31
  • 93.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TBC1D22B 30 31
  • 93.14 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D22B 31
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tbc1d22b 30
  • 90.43 (n)
Mouse
(Mus musculus)
Mammalia Tbc1d22b 30 17 31
  • 89.5 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TBC1D22B 31
  • 27 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TBC1D22B 30 31
  • 81.65 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TBC1D22B 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tbc1d22b 30
  • 74.32 (n)
Zebrafish
(Danio rerio)
Actinopterygii tbc1d22b 31
  • 63 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5745 30 31
  • 55.51 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004522 30
  • 53.39 (n)
Worm
(Caenorhabditis elegans)
Secernentea tbc-3 30 31
  • 56.56 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP1 31 33
  • 29 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G30710 30
  • 56.15 (n)
Rice
(Oryza sativa)
Liliopsida Os09g0515800 30
  • 56.15 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gyp1 30
  • 52.12 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU04241 30
  • 51.85 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3104 30
Species where no ortholog for TBC1D22B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TBC1D22B: view image

Paralogs for TBC1D22B Gene

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

  • TB22B_HUMAN
  • A8KA28_HUMAN
  • Q6P4C3_HUMAN
genes like me logo Genes that share paralogs with TBC1D22B: view

Variants for TBC1D22B Gene

Additional dbSNP identifiers (rs#s) for TBC1D22B Gene

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)

Additional Variant Information for TBC1D22B Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D22B Gene

Disorders for TBC1D22B Gene

Additional Disease Information for TBC1D22B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

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
  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 41
  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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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

Products for TBC1D22B Gene

Sources for TBC1D22B Gene