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Aliases for TBC1D22A Gene

Aliases for TBC1D22A Gene

  • TBC1 Domain Family Member 22A 2 3 5
  • TBC1 Domain Family, Member 22A 2 3
  • C22orf4 3 4
  • Chromosome 22 Open Reading Frame 4 2
  • Putative GTPase Activator 3
  • HSC79E021 3

External Ids for TBC1D22A Gene

Previous HGNC Symbols for TBC1D22A Gene

  • C22orf4

Previous GeneCards Identifiers for TBC1D22A Gene

  • GC22P045480
  • GC22P047158
  • GC22P030103

Summaries for TBC1D22A Gene

GeneCards Summary for TBC1D22A Gene

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

UniProtKB/Swiss-Prot for TBC1D22A 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 TBC1D22A Gene

Genomics for TBC1D22A Gene

Regulatory Elements for TBC1D22A Gene

Enhancers for TBC1D22A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TBC1D22A on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D22A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBC1D22A on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D22A Gene

46,762,617 bp from pter
47,203,479 bp from pter
440,863 bases
Plus strand

Genomic View for TBC1D22A Gene

Genes around TBC1D22A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D22A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D22A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D22A Gene

Proteins for TBC1D22A Gene

  • Protein details for TBC1D22A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    TBC1 domain family member 22A
    Protein Accession:
    Secondary Accessions:
    • B0QYI2
    • B0QYI3
    • B9A6M3
    • Q5TE47
    • Q6ZUH2
    • Q92680
    • Q9BVD6
    • Q9UGG0
    • Q9UGT2
    • Q9UGU6
    • Q9UH25
    • Q9Y4W5

    Protein attributes for TBC1D22A Gene

    517 amino acids
    Molecular mass:
    59121 Da
    Quaternary structure:
    • Homodimer.
    • Sequence=CAB46628.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TBC1D22A Gene

    Alternative splice isoforms for TBC1D22A Gene


neXtProt entry for TBC1D22A Gene

Proteomics data for TBC1D22A Gene at MOPED

Post-translational modifications for TBC1D22A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TBC1D22A Gene

Domains & Families for TBC1D22A Gene

Protein Domains for TBC1D22A Gene


Graphical View of Domain Structure for InterPro Entry



  • Contains 1 Rab-GAP TBC domain.
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D22A: view

No data available for Gene Families for TBC1D22A Gene

Function for TBC1D22A Gene

Molecular function for TBC1D22A Gene

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

Gene Ontology (GO) - Molecular Function for TBC1D22A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017137 Rab GTPase binding IBA --
GO:0042803 protein homodimerization activity IDA 18186464
genes like me logo Genes that share ontologies with TBC1D22A: view
genes like me logo Genes that share phenotypes with TBC1D22A: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D22A Gene

Localization for TBC1D22A Gene

Subcellular locations from

Jensen Localization Image for TBC1D22A Gene COMPARTMENTS Subcellular localization image for TBC1D22A gene
Compartment Confidence
golgi apparatus 2
nucleus 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TBC1D22A Gene

Pathways & Interactions for TBC1D22A Gene

SuperPathways for TBC1D22A Gene

No Data Available

Interacting Proteins for TBC1D22A Gene

Gene Ontology (GO) - Biological Process for TBC1D22A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0090630 activation of GTPase activity IBA --
genes like me logo Genes that share ontologies with TBC1D22A: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D22A Gene

Drugs & Compounds for TBC1D22A Gene

No Compound Related Data Available

Transcripts for TBC1D22A Gene

Unigene Clusters for TBC1D22A Gene

TBC1 domain family, member 22A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D22A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ·
SP1: - - - - -
SP2: - - - - - - - - -
SP3: -
SP4: - - -
SP5: - - -
SP6: -
SP7: -
SP11: - -

ExUns: 19d

Relevant External Links for TBC1D22A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TBC1D22A Gene

mRNA expression in normal human tissues for TBC1D22A Gene

Protein differential expression in normal tissues from HIPED for TBC1D22A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.1), NK cells (9.9), and Blymphocyte (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D22A Gene

SOURCE GeneReport for Unigene cluster for TBC1D22A Gene Hs.435044

genes like me logo Genes that share expression patterns with TBC1D22A: view

Protein tissue co-expression partners for TBC1D22A Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBC1D22A Gene

Orthologs for TBC1D22A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D22A Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TBC1D22A 35
  • 84.92 (n)
  • 85.83 (a)
TBC1D22A 36
  • 86 (a)
(Canis familiaris)
Mammalia TBC1D22A 35
  • 87.3 (n)
  • 91.3 (a)
TBC1D22A 36
  • 88 (a)
(Mus musculus)
Mammalia Tbc1d22a 35
  • 85.72 (n)
  • 90.12 (a)
Tbc1d22a 16
Tbc1d22a 36
  • 89 (a)
(Pan troglodytes)
Mammalia TBC1D22A 35
  • 98.9 (n)
  • 98.65 (a)
TBC1D22A 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Tbc1d22a 35
  • 83.82 (n)
  • 87.6 (a)
(Monodelphis domestica)
Mammalia TBC1D22A 36
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 49 (a)
(Gallus gallus)
Aves TBC1D22A 35
  • 72.66 (n)
  • 80.08 (a)
TBC1D22A 36
  • 80 (a)
(Anolis carolinensis)
Reptilia TBC1D22A 36
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d22a 35
  • 68.94 (n)
  • 72.9 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14673 35
(Danio rerio)
Actinopterygii Dr.26270 35
tbc1d22a 35
  • 67.25 (n)
  • 71.32 (a)
tbc1d22a 36
  • 64 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5745 36
  • 41 (a)
(Caenorhabditis elegans)
Secernentea tbc-3 36
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP1 36
  • 27 (a)
Species with no ortholog for TBC1D22A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)

Evolution for TBC1D22A Gene

Gene Tree for TBC1D22A (if available)
Gene Tree for TBC1D22A (if available)

Paralogs for TBC1D22A Gene

Paralogs for TBC1D22A Gene

genes like me logo Genes that share paralogs with TBC1D22A: view

Variants for TBC1D22A Gene

Sequence variations from dbSNP and Humsavar for TBC1D22A Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs4425 -- 46,903,089(+) GGCCG(C/T)GGATC intron-variant
rs4431 -- 46,942,542(+) ACCGC(A/G)TTAAT intron-variant
rs4434 -- 46,962,626(+) GCGGC(C/T)GTGTA intron-variant
rs4435 -- 46,971,928(+) GCAGC(C/G)CGGCA intron-variant
rs4436 -- 46,974,164(-) CAGTC(C/T)AGCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D22A Gene

Variant ID Type Subtype PubMed ID
nsv915377 CNV Loss 21882294
nsv3654 CNV Insertion 18451855
esv1249816 CNV Deletion 17803354
esv272315 CNV Insertion 20981092
esv268092 CNV Insertion 20981092
nsv3656 CNV Insertion 18451855
esv2724455 CNV Deletion 23290073
esv28794 CNV Gain+Loss 19812545
nsv820597 CNV Deletion 20802225
esv993620 CNV Deletion 20482838
esv2724456 CNV Deletion 23290073
nsv525182 CNV Loss 19592680
esv2536193 CNV Deletion 19546169
esv2623937 CNV Insertion 19546169
esv1135927 CNV Insertion 17803354
dgv5021n71 CNV Loss 21882294
nsv520549 CNV Loss 19592680
esv2673971 CNV Deletion 23128226
esv269667 CNV Insertion 20981092
esv273174 CNV Insertion 20981092
esv2665140 CNV Deletion 23128226
esv2724457 CNV Deletion 23290073
esv2724458 CNV Deletion 23290073
esv988178 CNV Deletion 20482838
esv2658255 CNV Deletion 23128226
nsv915380 CNV Loss 21882294
nsv519607 CNV Loss 19592680
esv2677311 CNV Deletion 23128226
dgv1413e1 CNV Complex 17122850
nsv834228 CNV Loss 17160897
esv2724459 CNV Deletion 23290073
esv2669936 CNV Deletion 23128226
esv268589 CNV Insertion 20981092
esv273094 CNV Insertion 20981092
esv2724460 CNV Deletion 23290073
esv2724462 CNV Deletion 23290073
esv2724463 CNV Deletion 23290073
esv2724464 CNV Deletion 23290073
nsv834229 CNV Loss 17160897
nsv3657 CNV Insertion 18451855
nsv471217 CNV Loss 18288195
esv997281 CNV Deletion 20482838
esv22144 CNV Loss 19812545
esv2724465 CNV Deletion 23290073
esv2109953 CNV Deletion 18987734
esv5332 CNV Deletion 18987735
esv990234 CNV Insertion 20482838
nsv191217 CNV Insertion 16902084
esv2724466 CNV Deletion 23290073
esv2038414 CNV Deletion 18987734
esv2724467 CNV Deletion 23290073
dgv789e201 CNV Deletion 23290073
esv2724469 CNV Deletion 23290073
esv1308585 CNV Deletion 17803354
esv2724471 CNV Deletion 23290073
esv2724475 CNV Deletion 23290073
esv2724476 CNV Deletion 23290073
esv2724477 CNV Deletion 23290073
esv1511173 CNV Deletion 17803354
esv2724478 CNV Deletion 23290073
nsv510519 CNV Loss 20534489
esv2724479 CNV Deletion 23290073
esv2724480 CNV Deletion 23290073
esv988931 CNV Insertion 20482838
esv1186853 CNV Insertion 17803354
dgv5022n71 CNV Loss 21882294
dgv5023n71 CNV Loss 21882294
nsv515802 CNV Loss 19592680
nsv459908 CNV Loss 19166990
dgv5024n71 CNV Loss 21882294
esv2279886 CNV Deletion 18987734
esv2724481 CNV Deletion 23290073
nsv915388 CNV Loss 21882294
dgv5025n71 CNV Loss 21882294
dgv5026n71 CNV Loss 21882294
esv2724482 CNV Deletion 23290073
esv2144294 CNV Deletion 18987734
esv2724483 CNV Deletion 23290073
nsv191549 CNV Loss 16902084
nsv191517 CNV Loss 16902084
esv2665891 CNV Deletion 23128226
esv2724485 CNV Deletion 23290073
nsv3658 CNV Insertion 18451855
esv1982652 CNV Deletion 18987734
esv2724486 CNV Deletion 23290073
esv2724487 CNV Deletion 23290073
esv2663061 CNV Deletion 23128226
esv2670729 CNV Deletion 23128226
essv11661 CNV CNV 17122850

Variation tolerance for TBC1D22A Gene

Residual Variation Intolerance Score: 34.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.07; 37.95% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TBC1D22A Gene

Disorders for TBC1D22A Gene

Relevant External Links for TBC1D22A

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

No disorders were found for TBC1D22A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D22A Gene

Publications for TBC1D22A Gene

  1. 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 48 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Genome-wide linkage and regional association study of obesity-related phenotypes: the GenSalt study. (PMID: 23526746) Liu A.Y. … Kelly T.N. (Obesity (Silver Spring) 2014) 3
  5. 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

Products for TBC1D22A Gene

Sources for TBC1D22A Gene