Aliases for TBC1D22A Gene

Aliases for TBC1D22A Gene

  • TBC1 Domain Family Member 22A 2 3 4 5
  • C22orf4 3 4
  • Chromosome 22 Open Reading Frame 4 2
  • TBC1 Domain Family, Member 22A 2
  • Putative GTPase Activator 3
  • HSC79E021 3
  • TBC1D22A 5

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. Diseases associated with TBC1D22A include Epilepsy, Familial Temporal Lobe, 5 and Generalized Epilepsy With Febrile Seizures Plus, Type 4. Gene Ontology (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 Summary for TBC1D22A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D22A Gene

Genomics for TBC1D22A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBC1D22A 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 TBC1D22A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D22A

Top Transcription factor binding sites by QIAGEN in the TBC1D22A gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for TBC1D22A Gene

Latest Assembly
462,359 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
412,796 bases
Plus strand

(GRCh37/hg19 by Ensembl)
412,819 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 (PubMed:18186464). Interacts with ACBD3 and ARFGEF1. Interacts with YWHAB, YWHAE, YWHAG, YWHAH, YWHAQ and YWHAZ (PubMed:23572552).
    • 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

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

Gene Families for TBC1D22A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TBC1D22A Gene

  • RabGAP/TBC domain

Suggested Antigen Peptide Sequences for TBC1D22A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ45751 fis, clone LYMPB2002344, highly similar to TBC1 domain family member 22A (B0QYI3_HUMAN)
  • TBC1 domain family, member 22A, isoform CRA_a (B9A6M3_HUMAN)
  • TBC1 domain family member 22A (TB22A_HUMAN)
genes like me logo Genes that share domains with TBC1D22A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for TBC1D22A Gene

Gene Ontology (GO) - Molecular Function for TBC1D22A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0005515 protein binding IPI 23572552
GO:0031267 small GTPase binding IBA --
GO:0042803 protein homodimerization activity IDA 18186464
GO:0071889 14-3-3 protein binding IDA 23572552
genes like me logo Genes that share ontologies with TBC1D22A: view
genes like me logo Genes that share phenotypes with TBC1D22A: view

Animal Models for TBC1D22A Gene

MGI Knock Outs for TBC1D22A:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D22A

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

Localization for TBC1D22A Gene

Subcellular locations from

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 TBC1D22A gene
Compartment Confidence
nucleus 2
golgi apparatus 2
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

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

Pathways & Interactions for TBC1D22A Gene

PathCards logo

SuperPathways for TBC1D22A Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D22A 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 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

mRNA/cDNA for TBC1D22A Gene

18 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D22A

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

Expression for TBC1D22A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TBC1D22A Gene

Protein tissue co-expression partners for TBC1D22A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D22A

SOURCE GeneReport for Unigene cluster for TBC1D22A Gene:


Evidence on tissue expression from TISSUES for TBC1D22A Gene

  • Nervous system(4.8)
  • Lung(4.2)
  • Liver(4.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with TBC1D22A: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia TBC1D22A 29 30
  • 98.9 (n)
(Canis familiaris)
Mammalia TBC1D22A 29 30
  • 87.3 (n)
(Mus musculus)
Mammalia Tbc1d22a 29 16 30
  • 85.72 (n)
(Bos Taurus)
Mammalia TBC1D22A 29 30
  • 84.92 (n)
(Rattus norvegicus)
Mammalia Tbc1d22a 29
  • 83.82 (n)
(Monodelphis domestica)
Mammalia TBC1D22A 30
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 49 (a)
(Gallus gallus)
Aves TBC1D22A 29 30
  • 72.66 (n)
(Anolis carolinensis)
Reptilia TBC1D22A 30
  • 74 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tbc1d22a 29
  • 68.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14673 29
(Danio rerio)
Actinopterygii tbc1d22a 29 30
  • 67.25 (n)
Dr.26270 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG5745 30
  • 41 (a)
(Caenorhabditis elegans)
Secernentea tbc-3 30
  • 45 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP1 30
  • 27 (a)
Species where no ortholog for TBC1D22A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Evolutionary constrained regions (ECRs) for TBC1D22A: view image
Alliance of Genome Resources:
Additional Orthologs for TBC1D22A

Paralogs for TBC1D22A Gene

(10) SIMAP similar genes for TBC1D22A Gene using alignment to 6 proteins:

  • B9A6M3_HUMAN
genes like me logo Genes that share paralogs with TBC1D22A: view

Variants for TBC1D22A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D22A Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs141698918 Benign: not provided 46,797,507(+) C/T
NM_014346.5(TBC1D22A):c.524C>T (p.Thr175Met)
rs141713070 Benign: not provided 46,793,850(+) G/C
rs146025212 Benign: not provided 46,793,719(+) C/T
NM_014346.5(TBC1D22A):c.338C>T (p.Thr113Met)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TBC1D22A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1329e212 CNV loss 25503493
dgv2469n106 OTHER inversion 24896259
dgv2471n106 CNV insertion 24896259
dgv2625e59 CNV duplication 20981092
dgv2627e59 CNV duplication 20981092
dgv742e201 CNV deletion 23290073
esv1135927 CNV insertion 17803354
esv1186853 CNV insertion 17803354
esv1249816 CNV deletion 17803354
esv1308585 CNV deletion 17803354
esv1511173 CNV deletion 17803354
esv1982652 CNV deletion 18987734
esv2038414 CNV deletion 18987734
esv2109953 CNV deletion 18987734
esv2144294 CNV deletion 18987734
esv22144 CNV loss 19812545
esv2279886 CNV deletion 18987734
esv2536193 CNV deletion 19546169
esv2623937 CNV insertion 19546169
esv2658255 CNV deletion 23128226
esv2663061 CNV deletion 23128226
esv2665140 CNV deletion 23128226
esv2665891 CNV deletion 23128226
esv2669936 CNV deletion 23128226
esv2670729 CNV deletion 23128226
esv2673971 CNV deletion 23128226
esv2677311 CNV deletion 23128226
esv2724455 CNV deletion 23290073
esv2724456 CNV deletion 23290073
esv2724457 CNV deletion 23290073
esv2724458 CNV deletion 23290073
esv2724459 CNV deletion 23290073
esv2724460 CNV deletion 23290073
esv2724462 CNV deletion 23290073
esv2724463 CNV deletion 23290073
esv2724464 CNV deletion 23290073
esv2724465 CNV deletion 23290073
esv2724466 CNV deletion 23290073
esv2724467 CNV deletion 23290073
esv2724469 CNV deletion 23290073
esv2724471 CNV deletion 23290073
esv2724475 CNV deletion 23290073
esv2724476 CNV deletion 23290073
esv2724477 CNV deletion 23290073
esv2724478 CNV deletion 23290073
esv2724479 CNV deletion 23290073
esv2724480 CNV deletion 23290073
esv2724481 CNV deletion 23290073
esv2724482 CNV deletion 23290073
esv2724483 CNV deletion 23290073
esv2724485 CNV deletion 23290073
esv2724486 CNV deletion 23290073
esv2724487 CNV deletion 23290073
esv2758845 CNV gain+loss 17122850
esv2760709 CNV loss 21179565
esv28794 CNV gain+loss 19812545
esv3303813 CNV mobile element insertion 20981092
esv3308041 CNV mobile element insertion 20981092
esv3326581 CNV insertion 20981092
esv3331914 CNV insertion 20981092
esv3337702 CNV duplication 20981092
esv3346195 CNV duplication 20981092
esv3348227 CNV duplication 20981092
esv3359931 CNV insertion 20981092
esv3364291 CNV insertion 20981092
esv3365557 CNV insertion 20981092
esv3408475 CNV duplication 20981092
esv3412478 CNV duplication 20981092
esv3443691 CNV insertion 20981092
esv3558274 CNV deletion 23714750
esv3558275 CNV deletion 23714750
esv3558278 CNV deletion 23714750
esv3568462 CNV loss 25503493
esv3647963 CNV loss 21293372
esv3647965 CNV loss 21293372
esv3647967 CNV loss 21293372
esv3647969 CNV loss 21293372
esv3647972 CNV loss 21293372
esv3647973 CNV loss 21293372
esv5332 CNV loss 18987735
esv988178 CNV deletion 20482838
esv988931 CNV insertion 20482838
esv990234 CNV insertion 20482838
esv993620 CNV deletion 20482838
esv997281 CNV deletion 20482838
nsv1056153 CNV loss 25217958
nsv1057835 CNV loss 25217958
nsv1063102 CNV loss 25217958
nsv1064813 CNV gain 25217958
nsv1072222 CNV deletion 25765185
nsv1073170 CNV deletion 25765185
nsv1073182 CNV deletion 25765185
nsv1077942 CNV duplication 25765185
nsv1078516 CNV duplication 25765185
nsv1109479 CNV deletion 24896259
nsv1117942 CNV deletion 24896259
nsv1120797 CNV deletion 24896259
nsv1121249 CNV deletion 24896259
nsv1126634 CNV deletion 24896259
nsv1133545 CNV deletion 24896259
nsv1136692 CNV deletion 24896259
nsv1139074 CNV deletion 24896259
nsv1142344 CNV tandem duplication 24896259
nsv1148431 CNV duplication 26484159
nsv1152661 OTHER inversion 26484159
nsv1153678 CNV duplication 26484159
nsv191217 CNV insertion 16902084
nsv191517 CNV deletion 16902084
nsv191549 CNV deletion 16902084
nsv3654 CNV insertion 18451855
nsv3656 CNV insertion 18451855
nsv3657 CNV insertion 18451855
nsv3658 CNV insertion 18451855
nsv459908 CNV loss 19166990
nsv471217 CNV loss 18288195
nsv510519 OTHER sequence alteration 20534489
nsv515802 CNV loss 19592680
nsv519607 CNV loss 19592680
nsv520549 CNV loss 19592680
nsv525182 CNV loss 19592680
nsv589139 CNV loss 21841781
nsv589140 CNV loss 21841781
nsv589141 CNV gain 21841781
nsv820597 CNV deletion 20802225
nsv834228 CNV loss 17160897
nsv834229 CNV loss 17160897
nsv955180 CNV deletion 24416366
nsv955181 CNV deletion 24416366

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)

Additional Variant Information for TBC1D22A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D22A Gene

Disorders for TBC1D22A Gene

MalaCards: The human disease database

(10) MalaCards diseases for TBC1D22A Gene - From: COP

Additional Disease Information for TBC1D22A

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TBC1D22A: view

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

Publications for TBC1D22A 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 40
  3. Joint influence of small-effect genetic variants on human longevity. (PMID: 20834067) Yashin AI … Ukraintseva SV (Aging 2010) 3 40
  4. 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
  5. First crystallographic models of human TBC domains in the context of a family-wide structural analysis. (PMID: 18186464) Tempel W … Park H (Proteins 2008) 3 4

Products for TBC1D22A Gene

Sources for TBC1D22A Gene