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Aliases for TBC1D30 Gene

Aliases for TBC1D30 Gene

  • TBC1 Domain Family Member 30 2 3 5
  • TBC1 Domain Family, Member 30 2
  • KIAA0984 4

External Ids for TBC1D30 Gene

Previous GeneCards Identifiers for TBC1D30 Gene

  • GC12P063460
  • GC12P065174
  • GC12P062225

Summaries for TBC1D30 Gene

GeneCards Summary for TBC1D30 Gene

TBC1D30 (TBC1 Domain Family Member 30) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity and Rab GTPase binding. An important paralog of this gene is TBC1D9B.

UniProtKB/Swiss-Prot for TBC1D30 Gene

  • GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D30 Gene

Genomics for TBC1D30 Gene

Regulatory Elements for TBC1D30 Gene

Enhancers for TBC1D30 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
GH12G064778 1.4 FANTOM5 ENCODE 0.7 -0.5 -450 4.7 SIN3A ZNF2 GLIS2 GATA2 ZNF263 ZNF202 SP3 SMARCB1 ZNF579 CBX8 TBK1 GNS PABPC1P4 LEMD3 RASSF3 TBC1D30 GC12P064764
GH12G064796 0.9 ENCODE 0.4 +15.4 15352 0.9 PKNOX1 ATF1 FOXA2 CBX3 ARID4B SIN3A BMI1 RAD21 RARA RFX5 TBC1D30 GC12M064868
GH12G064797 0.8 ENCODE 0.4 +16.2 16183 0.1 FOXA2 CEBPG RARA FOSL2 FOS NR2F6 CREM THAP11 SOX5 GATAD2A RNU6-166P TBC1D30 GC12M064868
GH12G064800 0.7 FANTOM5 0.4 +19.6 19643 0.4 SCRT1 EED SCRT2 IKZF1 JUNB RELB RELA TBK1 RNU6-166P RASSF3 LEMD3 GNS TBC1D30 GC12M064868
GH12G064824 0.9 Ensembl 0.3 +43.9 43905 1.9 PKNOX1 SIN3A ZNF76 ZBTB7B GLIS2 EGR1 HSF1 ZNF143 ZNF548 EGR2 LEMD3 TBK1 ENSG00000250280 RNU6-166P GC12M064868 TBC1D30
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBC1D30 on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D30 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000268842 -193 801 NFIB SIN3A GLIS2 ZNF366 SCRT2 ZNF263 ZNF202 SP3 ZEB2 ZNF398
ENSR00000053223 607 401 BMI1 ZNF2 ZEB1 GLIS2 ZNF366 ZNF263 ZNF362 ZEB2 ZNF843 ZNF781

Genomic Location for TBC1D30 Gene

Chromosome:
12
Start:
64,781,193 bp from pter
End:
64,881,032 bp from pter
Size:
99,840 bases
Orientation:
Plus strand

Genomic View for TBC1D30 Gene

Genes around TBC1D30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D30 Gene

Proteins for TBC1D30 Gene

  • Protein details for TBC1D30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2I9-TBC30_HUMAN
    Recommended name:
    TBC1 domain family member 30
    Protein Accession:
    Q9Y2I9
    Secondary Accessions:
    • B3KP01
    • B9A6M9
    • E7EMW4
    • F5GYJ9

    Protein attributes for TBC1D30 Gene

    Size:
    924 amino acids
    Molecular mass:
    102743 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76828.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D30 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D30 Gene

Post-translational modifications for TBC1D30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TBC1D30 Gene

Domains & Families for TBC1D30 Gene

Protein Domains for TBC1D30 Gene

Suggested Antigen Peptide Sequences for TBC1D30 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TBC1D30: view

No data available for Gene Families and UniProtKB/Swiss-Prot for TBC1D30 Gene

Function for TBC1D30 Gene

Molecular function for TBC1D30 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro.

Gene Ontology (GO) - Molecular Function for TBC1D30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 17646400
GO:0017137 Rab GTPase binding IPI 17646400
genes like me logo Genes that share ontologies with TBC1D30: view

Animal Model Products

CRISPR Products

miRNA for TBC1D30 Gene

miRTarBase miRNAs that target TBC1D30

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D30 Gene

Localization for TBC1D30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D30 Gene

Cell membrane; Peripheral membrane protein.

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 TBC1D30 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 3

Gene Ontology (GO) - Cellular Components for TBC1D30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0005929 cilium IDA 17646400
GO:0012505 endomembrane system IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TBC1D30: view

Pathways & Interactions for TBC1D30 Gene

SuperPathways for TBC1D30 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0043547 positive regulation of GTPase activity IDA 17646400
GO:0090630 activation of GTPase activity IBA --
GO:1902018 negative regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D30: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D30 Gene

Transcripts for TBC1D30 Gene

Unigene Clusters for TBC1D30 Gene

TBC1 domain family, member 30:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D30 Gene

No ASD Table

Relevant External Links for TBC1D30 Gene

GeneLoc Exon Structure for
TBC1D30
ECgene alternative splicing isoforms for
TBC1D30

Expression for TBC1D30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBC1D30 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBC1D30 Gene

This gene is overexpressed in Pancreas (x4.3).

Protein differential expression in normal tissues from HIPED for TBC1D30 Gene

This gene is overexpressed in Adipocyte (41.4) and Pancreas (27.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D30 Gene



Protein tissue co-expression partners for TBC1D30 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBC1D30 Gene:

TBC1D30

SOURCE GeneReport for Unigene cluster for TBC1D30 Gene:

Hs.192492

Evidence on tissue expression from TISSUES for TBC1D30 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with TBC1D30: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D30 Gene

Orthologs for TBC1D30 Gene

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

Orthologs for TBC1D30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC467055 34
  • 99.42 (n)
TBC1D30 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D30 34 35
  • 89.06 (n)
cow
(Bos Taurus)
Mammalia TBC1D30 34 35
  • 88.89 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D30 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d30 34 16 35
  • 84.76 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d30 34
  • 84.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D30 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D30 34 35
  • 76.52 (n)
lizard
(Anolis carolinensis)
Reptilia TBC1D30 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d30 34
  • 70.63 (n)
zebrafish
(Danio rerio)
Actinopterygii tbc1d30 34 35
  • 66.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42795 35
  • 9 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tbc-19 35
  • 8 (a)
ManyToMany
tbc-9 35
  • 7 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDR1 35
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToOne
Species where no ortholog for TBC1D30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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 TBC1D30 Gene

ENSEMBL:
Gene Tree for TBC1D30 (if available)
TreeFam:
Gene Tree for TBC1D30 (if available)

Paralogs for TBC1D30 Gene

Paralogs for TBC1D30 Gene

(1) SIMAP similar genes for TBC1D30 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TBC1D30: view

Variants for TBC1D30 Gene

Sequence variations from dbSNP and Humsavar for TBC1D30 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs786205619 Likely pathogenic 64,759,194(-) GCTAC(-/T)GCTGG upstream-variant-2KB, reference, frameshift-variant
rs145477737 Uncertain significance 64,759,444(+) GGACA(-/G)GGGGG upstream-variant-2KB, utr-variant-5-prime
rs200441930 Uncertain significance 64,759,273(+) GAGCC(A/C/G)CATAG upstream-variant-2KB, reference, missense
rs540537083 Uncertain significance 64,759,204(+) CAGCG(C/T)TGGGC upstream-variant-2KB, reference, missense
rs559286032 Uncertain significance 64,759,300(+) GACCC(-/CGGGA)CGGGA upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TBC1D30 Gene

Variant ID Type Subtype PubMed ID
nsv52978 CNV deletion 16902084
nsv973085 CNV duplication 23825009

Variation tolerance for TBC1D30 Gene

Gene Damage Index Score: 2.67; 45.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D30 Gene

Human Gene Mutation Database (HGMD)
TBC1D30
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D30 Gene

Disorders for TBC1D30 Gene

Relevant External Links for TBC1D30

Genetic Association Database (GAD)
TBC1D30
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D30

No disorders were found for TBC1D30 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D30 Gene

Publications for TBC1D30 Gene

  1. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli E.T. … Goldstein D.B. (Eur. J. Hum. Genet. 2010) 3 46 64
  2. 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 64
  3. Functional dissection of Rab GTPases involved in primary cilium formation. (PMID: 17646400) Yoshimura S. … Barr F.A. (J. Cell Biol. 2007) 2 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. GAPs galore! A survey of putative Ras superfamily GTPase activating proteins in man and Drosophila. (PMID: 12618308) Bernards A. (Biochim. Biophys. Acta 2003) 2 3 64

Products for TBC1D30 Gene

Sources for TBC1D30 Gene

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