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Aliases for ENSG00000248751 Gene
Aliases for ENSG00000248751 Gene
External Ids for ENSG00000248751 Gene
- Ensembl: ENSG00000248751
- UniProtKB: H0Y2U5
- UniProtKB: H0Y5R9
- UniProtKB: H7C1Q1
- UniProtKB: H7C471
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
- Ensembl(ENSG00000248751)
- UniProtKB(H0Y2U5)
- UniProtKB(H0Y5R9)
- UniProtKB(H7C1Q1)
- UniProtKB(H7C471)
- Open Targets Platform(ENSG00000248751)
- Search for ENSG00000248751 at DataMed
- Search for ENSG00000248751 at HumanCyc
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:
-
- 22q12.2 by Ensembl
ENSG00000248751 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
Protein Expression for ENSG00000248751 Gene
Post-translational modifications for ENSG00000248751 Gene
No Post-translational modifications
Other Protein References for ENSG00000248751 Gene
- ENSEMBL proteins:
Antibody Products
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ENSG00000248751
- Origene Custom Protein Services for ENSG00000248751
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
- InterPro:
- ProtoNet:
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0034618 | arginine binding | IBA | -- |
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Browse CRISPR knockouts for ENSG00000248751
miRNA Products
Inhibitory RNA 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 ENSG00000248751 Gene
Localization for ENSG00000248751 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | IBA | -- |
| GO:0061700 | GATOR2 complex | IBA | -- |
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
Interacting Proteins 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for ENSG00000248751 Gene
Transcripts for ENSG00000248751 Gene
mRNA/cDNA for ENSG00000248751 Gene
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000330168 1974 nts (view in UCSC)
- ENST00000418047 1781 nts (view in UCSC)
- ENST00000434291 1818 nts (view in UCSC)
- ENST00000434987 1811 nts (view in UCSC)
- ENST00000447976 1851 nts (view in UCSC)
CRISPR Products
- Browse CRISPR knockouts for ENSG00000248751
miRNA Products
Inhibitory RNA Products
Clone Products
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
Integrated Proteomics: protein expression in normal tissues and cell lines from MaxQB and MOPED for ENSG00000248751 Gene
Primer Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | -- 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TBC1D10A 31 |
|
OneToMany | |
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| Mouse (Mus musculus) |
Mammalia | Tbc1d10a 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Zebrafish (Danio rerio) |
Actinopterygii | tbc1d10a 31 |
|
ManyToMany | |
| si:ch211-87l2.1 31 |
|
ManyToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | wkd 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | tbc-10 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSB4 31 |
|
ManyToMany | |
| MSB3 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6221 31 |
|
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)
Paralogs for ENSG00000248751 Gene
Paralogs for ENSG00000248751 Gene
- TBC1D10A 5
- TBC1D10B 5
- TBC1D10C 5
- EVI5L 5
- TBC1D8B 5
- TBC1D8 5
- TBC1D9 5
- TBC1D9B 5
- EVI5 5
- USP6NL 5
- TBC1D4 5
- TBC1D1 5
- TBC1D2B 5
- SGSM3 5
- RABGAP1 5
- GRTP1 5
- TBC1D2 5
- SGSM1 5
- TBC1D14 5
- SGSM2 5
- TBC1D16 5
- RABGAP1L 5
- TBC1D5 5
- TBCK 5
- TBC1D30 5
- TBC1D3B 5
- TBC1D3I 5
- TBC1D3F 5
- TBC1D3G 5
- TBC1D3H 5
- TBC1D12 5
- TBC1D3K 5
- TBC1D3L 5
- TBC1D3D 5
- TBC1D3C 5
- TBC1D3E 5
- TBC1D3 5
- ENSG00000288591 5
- TBC1D15 5
- TBC1D17 5
- TBC1D26 5
- TBC1D22B 5
- TBC1D22A 5
- TBC1D25 5
- TBC1D21 5
- TBC1D13 5
- TBC1D28 5
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
- 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
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ENSG00000248751
- Origene Custom Protein Services for ENSG00000248751
- Browse OriGene Inhibitory RNA Products For ENSG00000248751
- Browse OriGene qPCR primer pairs and template standards
- Browse CRISPR knockouts for ENSG00000248751
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ENSG00000248751
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for knockout CRISPR/Cas9 clones, lentivirus, and/or AAV products for ENSG00000248751
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles, and/or promoter clone products for ENSG00000248751
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ENSG00000248751
- Search GeneCopoeia for shRNA, lentivirus, and/or AAV clone products for ENSG00000248751
Sources for ENSG00000248751 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB