Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TBC1D7-LOC100130357 Gene

Aliases for TBC1D7-LOC100130357 Gene

  • TBC1D7-LOC100130357 Readthrough 3

External Ids for TBC1D7-LOC100130357 Gene

Summaries for TBC1D7-LOC100130357 Gene

Entrez Gene Summary for TBC1D7-LOC100130357 Gene

  • This locus represents naturally occurring readthrough transcription between the neighboring TBC1D7 (TBC1 domain family member 7) gene and downstream uncharacterized LOC100130357 on chromosome 6. Readthrough transcripts may encode the same protein as TBC1 domain family member 7 or may be candidates for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Jan 2016]

GeneCards Summary for TBC1D7-LOC100130357 Gene

TBC1D7-LOC100130357 (TBC1D7-LOC100130357 Readthrough) is a Protein Coding gene. Diseases associated with TBC1D7-LOC100130357 include Megalencephaly. Among its related pathways are Vesicle-mediated transport and TBC/RABGAPs.

Additional gene information for TBC1D7-LOC100130357 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D7-LOC100130357 Gene

Genomics for TBC1D7-LOC100130357 Gene

Genomic Locations for TBC1D7-LOC100130357 Gene

Genomic Locations for TBC1D7-LOC100130357 Gene
chr6:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for TBC1D7-LOC100130357 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for TBC1D7-LOC100130357 Gene

No data available for GeneHancer (GH) Regulatory Elements for TBC1D7-LOC100130357 Gene

Proteins for TBC1D7-LOC100130357 Gene

Post-translational modifications for TBC1D7-LOC100130357 Gene

No Post-translational modifications

Other Protein References for TBC1D7-LOC100130357 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D7-LOC100130357 Gene

Domains & Families for TBC1D7-LOC100130357 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for TBC1D7-LOC100130357 Gene

Function for TBC1D7-LOC100130357 Gene

Phenotypes From GWAS Catalog for TBC1D7-LOC100130357 Gene

Gene Ontology (GO) - Molecular Function for TBC1D7-LOC100130357 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 17646400
GO:0005515 protein binding IPI 17658474
GO:0017137 Rab GTPase binding IPI 17646400
genes like me logo Genes that share ontologies with TBC1D7-LOC100130357: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TBC1D7-LOC100130357 Gene

Localization for TBC1D7-LOC100130357 Gene

Gene Ontology (GO) - Cellular Components for TBC1D7-LOC100130357 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0031410 cytoplasmic vesicle IDA 17658474
GO:0036064 ciliary basal body IDA 17646400
genes like me logo Genes that share ontologies with TBC1D7-LOC100130357: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for TBC1D7-LOC100130357 Gene

Pathways & Interactions for TBC1D7-LOC100130357 Gene

genes like me logo Genes that share pathways with TBC1D7-LOC100130357: view

Pathways by source for TBC1D7-LOC100130357 Gene

3 Reactome pathways for TBC1D7-LOC100130357 Gene
1 KEGG pathway for TBC1D7-LOC100130357 Gene

Interacting Proteins for TBC1D7-LOC100130357 Gene

Gene Ontology (GO) - Biological Process for TBC1D7-LOC100130357 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031398 positive regulation of protein ubiquitination IDA 17658474
GO:0032007 negative regulation of TOR signaling IMP 22795129
GO:0043547 positive regulation of GTPase activity IDA 17646400
GO:0070848 response to growth factor IMP 22795129
GO:0090630 activation of GTPase activity IMP 22795129
genes like me logo Genes that share ontologies with TBC1D7-LOC100130357: view

No data available for SIGNOR curated interactions for TBC1D7-LOC100130357 Gene

Drugs & Compounds for TBC1D7-LOC100130357 Gene

No Compound Related Data Available

Transcripts for TBC1D7-LOC100130357 Gene

mRNA/cDNA for TBC1D7-LOC100130357 Gene

(1) REFSEQ mRNAs :

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D7-LOC100130357 Gene

No ASD Table

Expression for TBC1D7-LOC100130357 Gene

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D7-LOC100130357 Gene

Orthologs for TBC1D7-LOC100130357 Gene

No data available for Orthologs and Evolution for TBC1D7-LOC100130357 Gene

Paralogs for TBC1D7-LOC100130357 Gene

No data available for Paralogs for TBC1D7-LOC100130357 Gene

Variants for TBC1D7-LOC100130357 Gene

Sequence variations from dbSNP and Humsavar for TBC1D7-LOC100130357 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs483352922 pathogenic, Macrocephaly 13,307,727(-) A/ coding_sequence_variant, frameshift, intron_variant
rs587777652 pathogenic, Macrocephaly 13,326,878(-) TCTCT/T coding_sequence_variant, frameshift, non_coding_transcript_variant
rs80189640 likely-benign, not specified 13,316,677(-) G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs9381921 likely-benign, not specified 13,316,684(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000063168 -- 13,266,638(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for TBC1D7-LOC100130357 Gene

Disorders for TBC1D7-LOC100130357 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBC1D7-LOC100130357 Gene - From: GeneCards

Disorder Aliases PubMed IDs
megalencephaly
  • macroencephaly
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TBC1D7-LOC100130357

genes like me logo Genes that share disorders with TBC1D7-LOC100130357: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBC1D7-LOC100130357 Gene

Publications for TBC1D7-LOC100130357 Gene

  1. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N … Roth FP (Molecular systems biology 2016) 3 58
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  3. TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease. (PMID: 24515783) Alfaiz AA … Reymond A (Human mutation 2014) 3 58
  4. Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. (PMID: 23687350) Capo-Chichi JM … Michaud JL (Journal of medical genetics 2013) 3 58
  5. Rab GTPase-activating proteins in autophagy: regulation of endocytic and autophagy pathways by direct binding to human ATG8 modifiers. (PMID: 22354992) Popovic D … Dikic I (Molecular and cellular biology 2012) 3 58

Products for TBC1D7-LOC100130357 Gene

Sources for TBC1D7-LOC100130357 Gene

Content
Loading form....