Aliases for TBC1D30 Gene

Aliases for TBC1D30 Gene

  • TBC1 Domain Family Member 30 2 3 4 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. Diseases associated with TBC1D30 include Alternating Esotropia and Diarrhea 2, With Microvillus Atrophy. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rab GTPase binding. An important paralog of this gene is TBC1D22B.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for TBC1D30 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D30 Gene

Genomics for TBC1D30 Gene

GeneHancer (GH) Regulatory Elements for TBC1D30 Gene

Promoters and enhancers for TBC1D30 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J064756 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 -22.1 -22092 4.5 HNRNPK ZBTB40 ZNF217 EP300 SIN3A NRF1 POLR2G USF1 SP1 PHF8 GNS ENSG00000215159 TBC1D30 TBK1 RF00017-1172
GH12J064778 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE 500.7 +0.2 227 4.7 ZNF217 CTCF USF1 PHF8 ZFX ZNF639 ZIC2 POLR2A CLOCK ZNF423 TBC1D30 lnc-GNS-5 TBK1 GNS PABPC1P4 RASSF3 LEMD3 ENSG00000215159 ENSG00000286682
GH12J064824 Promoter 1.4 EPDnew Ensembl 500.3 +44.5 44485 2 ZNF217 ZFX ZIC2 ZBTB10 ZNF423 ZBTB26 SAP30 CHD1 RCOR1 REST ENSG00000286682 TBC1D30 ENSG00000255566 RNU6-166P lnc-GNS-5
GH12J064796 Enhancer 1.1 Ensembl ENCODE 0.4 +16.2 16225 1.9 ZNF217 CTCF TCF7 REST CUX1 ZBTB25 RAD21 TRIM22 TEAD1 ATF2 RNU6-166P ENSG00000223294 lnc-GNS-5 TBC1D30 ENSG00000286682
GH12J064800 Enhancer 1 FANTOM5 Ensembl 0.4 +20.6 20602 3 ZNF217 CTCF RELA RAD21 TRIM22 SMC3 TCF12 ARNT NBN ZFHX2 GNS TBK1 RNU6-166P RASSF3 LEMD3 ENSG00000286682 lnc-GNS-5 TBC1D30
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D30 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D30

Top Transcription factor binding sites by QIAGEN in the TBC1D30 gene promoter:
  • AML1a
  • C/EBPbeta
  • ER-alpha
  • HNF-4alpha1
  • IRF-7A
  • Lhx3a
  • LHX3b
  • p300
  • Pax-5
  • SRY

Genomic Locations for TBC1D30 Gene

Genomic Locations for TBC1D30 Gene
chr12:64,780,516-64,881,033
(GRCh38/hg38)
Size:
100,518 bases
Orientation:
Plus strand
chr12:65,174,589-65,274,812
(GRCh37/hg19)
Size:
100,224 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

Gene Families for TBC1D30 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TBC1D30 Gene

Blocks:
  • RabGAP/TBC domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D30 Gene

GenScript: Design optimal peptide antigens:
  • TBC1 domain family, member 30 (B9A6M9_HUMAN)
  • TBC1 domain family member 30 (TBC30_HUMAN)
genes like me logo Genes that share domains with TBC1D30: view

No data available for Graphical View of Domain Structure 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.

Phenotypes From GWAS Catalog for TBC1D30 Gene

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

Phenotypes for TBC1D30 Gene

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

miRNA for TBC1D30 Gene

miRTarBase miRNAs that target TBC1D30

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
cytoskeleton 5
cytosol 5
plasma membrane 4
nucleus 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBC1D30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA,IDA --
GO:0005929 cilium IDA 17646400
GO:0016020 membrane IEA --
GO:0036064 ciliary basal body IDA 17646400
genes like me logo Genes that share ontologies with TBC1D30: view

Pathways & Interactions for TBC1D30 Gene

PathCards logo

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 21873635
GO:0043547 positive regulation of GTPase activity IDA 17646400
GO:0090630 activation of GTPase activity IBA 21873635
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

Drugs & Compounds for TBC1D30 Gene

No Compound Related Data Available

Transcripts for TBC1D30 Gene

mRNA/cDNA for TBC1D30 Gene

5 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for TBC1D30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TBC1D30 Gene



Protein tissue co-expression partners for TBC1D30 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30
  • 99.42 (n)
TBC1D30 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D30 31 30
  • 89.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D30 31 30
  • 88.89 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBC1D30 31
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d30 17 31 30
  • 84.76 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d30 30
  • 84.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D30 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D30 31 30
  • 76.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D30 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d30 30
  • 70.63 (n)
zebrafish
(Danio rerio)
Actinopterygii tbc1d30 31 30
  • 66.1 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42795 31
  • 9 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tbc-19 31
  • 8 (a)
ManyToMany
tbc-9 31
  • 7 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDR1 31
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TBC1D30: view image

Paralogs for TBC1D30 Gene

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

  • TBC30_HUMAN
  • F5GY74_HUMAN
  • F5H0E8_HUMAN
  • F5H7L7_HUMAN
  • F8VZ81_HUMAN
genes like me logo Genes that share paralogs with TBC1D30: view

Variants for TBC1D30 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D30 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
768564 Benign: not provided 64,866,757(+) T/A INTRON_VARIANT
rs1295631624 Uncertain Significance: not provided 64,836,489(+) G/T SPLICE_ACCEPTOR_VARIANT
rs2290527 -. - p.Asn596Aspp.Asn759Asp
rs11615287 - p.Gln296His
rs939875 - p.Val752Ile

Additional dbSNP identifiers (rs#s) for TBC1D30 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(2) MalaCards diseases for TBC1D30 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TBC1D30

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

No data available for 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 ET … Goldstein DB (European journal of human genetics : EJHG 2010) 3 41 54
  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 to cells : devoted to molecular & cellular mechanisms 2009) 3 4 54
  3. Functional dissection of Rab GTPases involved in primary cilium formation. (PMID: 17646400) Yoshimura S … Barr FA (The Journal of cell biology 2007) 2 3 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. GAPs galore! A survey of putative Ras superfamily GTPase activating proteins in man and Drosophila. (PMID: 12618308) Bernards A (Biochimica et biophysica acta 2003) 2 3 54

Products for TBC1D30 Gene

Sources for TBC1D30 Gene