Aliases for ENSG00000248751 Gene

Aliases for ENSG00000248751 Gene

  • Rab-GAP TBC Domain-Containing Protein 13
  • Novel Protein 5
  • AC004997.1 5

External Ids for ENSG00000248751 Gene

Previous GeneCards Identifiers for ENSG00000248751 Gene

  • GC22M030684
  • GC22M030685

Summaries for ENSG00000248751 Gene

GeneCards Summary for ENSG00000248751 Gene

ENSG00000248751 is a Protein Coding gene. An important paralog of this gene is TBC1D10A.

Additional gene information for ENSG00000248751 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENSG00000248751 Gene

Genomics for ENSG00000248751 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ENSG00000248751 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 ENSG00000248751 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for ENSG00000248751 Gene

Genomic Locations for ENSG00000248751 Gene
chr22:30,285,238-30,299,482
(GRCh38/hg38)
Size:
14,245 bases
Orientation:
Minus strand
chr22:30,681,227-30,695,471
(GRCh37/hg19)
Size:
14,245 bases
Orientation:
Minus strand

Genomic View for ENSG00000248751 Gene

Genes around ENSG00000248751 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENSG00000248751 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENSG00000248751 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

No data available for RefSeq DNA sequence for ENSG00000248751 Gene

Proteins for ENSG00000248751 Gene

  • Protein details for ENSG00000248751 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    H0Y2U5-H0Y2U5_HUMAN
    Recommended name:
    Rab-GAP TBC domain-containing protein
    Protein Accession:
    H0Y2U5

    Protein attributes for ENSG00000248751 Gene

    Size:
    243 amino acids
    Molecular mass:
    28313 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ENSG00000248751 Gene

Protein Expression for ENSG00000248751 Gene

Post-translational modifications for ENSG00000248751 Gene

No Post-translational modifications

Other Protein References for ENSG00000248751 Gene

No data available for DME Specific Peptides for ENSG00000248751 Gene

Domains & Families for ENSG00000248751 Gene

Gene Families for ENSG00000248751 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ENSG00000248751 Gene

genes like me logo Genes that share domains with ENSG00000248751: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ENSG00000248751 Gene

Function for ENSG00000248751 Gene

Phenotypes From GWAS Catalog for ENSG00000248751 Gene

Gene Ontology (GO) - Molecular Function for ENSG00000248751 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034618 arginine binding IBA --
genes like me logo Genes that share ontologies with ENSG00000248751: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENSG00000248751 Gene

Localization for ENSG00000248751 Gene

Gene Ontology (GO) - Cellular Components for ENSG00000248751 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IBA --
GO:0061700 GATOR2 complex IBA --
genes like me logo Genes that share ontologies with ENSG00000248751: 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 ENSG00000248751 Gene

Pathways & Interactions for ENSG00000248751 Gene

PathCards logo

SuperPathways for ENSG00000248751 Gene

No Data Available

Interacting Proteins for ENSG00000248751 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000401535 for ENSG00000248751 Gene via STRING

Gene Ontology (GO) - Biological Process for ENSG00000248751 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1902531 regulation of intracellular signal transduction IBA --
GO:1903432 regulation of TORC1 signaling IEA --
GO:1903577 cellular response to L-arginine IBA --
GO:1904262 negative regulation of TORC1 signaling IBA --
genes like me logo Genes that share ontologies with ENSG00000248751: view

No data available for Pathways by source and SIGNOR curated interactions for ENSG00000248751 Gene

Drugs & Compounds for ENSG00000248751 Gene

No Compound Related Data Available

Transcripts for ENSG00000248751 Gene

mRNA/cDNA for ENSG00000248751 Gene

5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for ENSG00000248751 Gene

No ASD Table

Relevant External Links for ENSG00000248751 Gene

GeneLoc Exon Structure for
ENSG00000248751

Expression for ENSG00000248751 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ENSG00000248751 Gene

mRNA expression in normal human tissues for ENSG00000248751 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from MaxQB and MOPED for ENSG00000248751 Gene



genes like me logo Genes that share expression patterns with ENSG00000248751: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , 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 ENSG00000248751 Gene

Orthologs for ENSG00000248751 Gene

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

Orthologs for ENSG00000248751 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 100 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TBC1D10A 31
  • 61 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 56 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Tbc1d10a 31
  • 53 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 57 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 54 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii tbc1d10a 31
  • 48 (a)
ManyToMany
si:ch211-87l2.1 31
  • 25 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta wkd 31
  • 32 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tbc-10 31
  • 29 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSB4 31
  • 14 (a)
ManyToMany
MSB3 31
  • 13 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6221 31
  • 46 (a)
OneToMany
Species where no ortholog for ENSG00000248751 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ENSG00000248751 Gene

ENSEMBL:
Gene Tree for ENSG00000248751 (if available)
TreeFam:
Gene Tree for ENSG00000248751 (if available)

Paralogs for ENSG00000248751 Gene

Variants for ENSG00000248751 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for ENSG00000248751 Gene

Disorders for ENSG00000248751 Gene

Additional Disease Information for ENSG00000248751

No disorders were found for ENSG00000248751 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ENSG00000248751 Gene

Publications for ENSG00000248751 Gene

  1. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 13

No data available for Mastermind for ENSG00000248751 Gene

Products for ENSG00000248751 Gene

Sources for ENSG00000248751 Gene