Aliases for TBC1D7 Gene
Aliases for TBC1D7 Gene
External Ids for TBC1D7 Gene
- HGNC: 21066
- Entrez Gene: 51256
- Ensembl: ENSG00000145979
- OMIM: 612655
- UniProtKB: Q9P0N9
Previous GeneCards Identifiers for TBC1D7 Gene
- GC06M013329
- GC06M013374
- GC06M013413
- GC06M013305
- GC06M013242
Summaries for TBC1D7 Gene
-
This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]
GeneCards Summary for TBC1D7 Gene
TBC1D7 (TBC1 Domain Family Member 7) is a Protein Coding gene. Diseases associated with TBC1D7 include Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive and Isolated Megalencephaly. Among its related pathways are Vesicle-mediated transport and mTOR signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rab GTPase binding.
UniProtKB/Swiss-Prot for TBC1D7 Gene
-
Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question.
Additional gene information for TBC1D7 Gene
- Monarch Initiative
- Search for TBC1D7 at DataMed
- Search for TBC1D7 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D7 Gene
Genomics for TBC1D7 Gene
GeneHancer (GH) Regulatory Elements for TBC1D7 Gene
Promoters and enhancers for TBC1D7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TBC1D7 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for TBC1D7 Gene
Genomic Locations for TBC1D7 Gene
- chr6:13,266,542-13,328,583
- (GRCh38/hg38)
- Size:
- 62,042 bases
- Orientation:
- Minus strand
- chr6:13,266,774-13,328,815
- (GRCh37/hg19)
Genomic View for TBC1D7 Gene
Genes around TBC1D7 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p24.1 by Entrez Gene
- 6p24.1 by HGNC
- 6p24.1 by Ensembl
TBC1D7 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
RefSeq DNA sequence for TBC1D7 Gene
Proteins for TBC1D7 Gene
-
Protein details for TBC1D7 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9P0N9-TBCD7_HUMAN
- Recommended name:
- TBC1 domain family member 7
- Protein Accession:
- Q9P0N9
- E7EV96
- Q2TU37
- Q53F44
- Q5SZL7
- Q86VM8
- Q96MB8
Protein attributes for TBC1D7 Gene
- Size:
- 293 amino acids
- Molecular mass:
- 33972 Da
- Quaternary structure:
-
- Component of the TSC-TBC complex (also named Rhebulator complex), composed of the TSC1-TSC2 heterodimer and TBC1D7. Interacts with TSC1 (via C-terminal half of the coiled-coil domain).
Protein Expression for TBC1D7 Gene
Post-translational modifications for TBC1D7 Gene
Other Protein References for TBC1D7 Gene
- ENSEMBL proteins:
-
- ENSP00000475727
- ENSP00000475795
- ENSP00000475191
- ENSP00000412102
- ENSP00000368602
- ENSP00000368609
- ENSP00000343100
- ENSP00000475355
- ENSP00000348813
- ENSP00000414101
- ENSP00000401339
- ENSP00000401438
- ENSP00000394425
- ENSP00000417005
- ENSP00000414292
- ENSP00000476109
- ENSP00000475469
- ENSP00000404680
- ENSP00000368593
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TBC1D7
- Novus Biologicals Antibodies for TBC1D7
- Invitrogen Antibodies for TBC1D7
- Search GeneTex for Antibodies for TBC1D7
-
Boster Bio Antibodies for TBC1D7
-
Santa Cruz Biotechnology (SCBT) Antibodies for TBC1D7
Protein Products
-
OriGene Purified Proteins for TBC1D7
- Search Origene for MassSpec and Protein Over-expression Lysates for TBC1D7
- Origene Custom Protein Services for TBC1D7
- antibodies-online: Search results for 4 available TBC1D7 Proteins ranked by validation data
- Compare Top TBC1D7 Proteins
-
Quality Products:
- Search GeneTex for Proteins for TBC1D7
Assay Products
No data available for DME Specific Peptides for TBC1D7 Gene
Domains & Families for TBC1D7 Gene
Gene Families for TBC1D7 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for TBC1D7 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TBC1D7 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for TBC1D7 Gene
Function for TBC1D7 Gene
Molecular function for TBC1D7 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question.
Phenotypes From GWAS Catalog for TBC1D7 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 |
Phenotypes for TBC1D7 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TBC1D7
-
CRISPR Products
-
OriGene CRISPR knockouts for TBC1D7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBC1D7
- genomics-online: gRNA clones - Search results for 142 available TBC1D7 gene related products
- Overview of 142 available TBC1D7 gene related products
- Applied Biological Materials CRISPR for TBC1D7
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBC1D7
- GenScript: Design CRISPR guide RNA sequences for TBC1D7
miRNA for TBC1D7 Gene
- miRTarBase miRNAs that target TBC1D7
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for TBC1D7
- Browse OriGene Inhibitory RNA Products For TBC1D7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D7
- genomics-online: shRNA clones - Search results for 142 available TBC1D7 gene related products
- Overview of 142 available TBC1D7 gene related products
Clone Products
-
OriGene ORF clones in human for TBC1D7
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for TBC1D7
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TBC1D7
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TBC1D7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBC1D7
- Applied Biological Materials Clones for TBC1D7
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for TBC1D7
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D7 Gene
Localization for TBC1D7 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TBC1D7 Gene
- Cytoplasmic vesicle. Note=Localizes in the cytoplasmic vesicles of the endomembrane in association with TSC1-TSC2 complex.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0031410 | cytoplasmic vesicle | IDA,IEA | 17658474 |
| GO:0036064 | ciliary basal body | IDA | 17646400 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TBC1D7 Gene
Pathways & Interactions for TBC1D7 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | mTOR signaling pathway (KEGG) | ||
| 2 | Vesicle-mediated transport | ||
| 3 | PI3K / Akt Signaling | ||
| 4 | TBC/RABGAPs | ||
Pathways by source for TBC1D7 Gene
3 Reactome pathways for TBC1D7 Gene
1 KEGG pathway for TBC1D7 Gene
1 R&D Systems pathway for TBC1D7 Gene
1 Cell Signaling Technology pathway for TBC1D7 Gene
Interacting Proteins for TBC1D7 Gene
Selected Interacting proteins:
Q9P0N9-TBCD7_HUMAN
ENSP00000348813
for TBC1D7 Gene via
IID
UniProtKB
STRING
GPS-Prot Interaction Network for TBC1D7
| 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 |
No data available for SIGNOR curated interactions for TBC1D7 Gene
Transcripts for TBC1D7 Gene
mRNA/cDNA for TBC1D7 Gene
- (177) Selected AceView cDNA sequences:
- (9) Additional mRNA sequences :
- (7) REFSEQ mRNAs :
- (21) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000343141 1027 bps (uc010jpd.6)
- ENST00000356436 1116 bps (uc003nan.5)
- ENST00000379291 693 bps (uc063lyi.1)
- ENST00000379300 1276 bps (uc003nal.5)
- ENST00000379307 1084 bps (uc003nao.5)
Unigene Clusters for TBC1D7 Gene
- TBC1 domain family, member 7:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for TBC1D7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBC1D7
- genomics-online: gRNA clones - Search results for 142 available TBC1D7 gene related products
- Overview of 142 available TBC1D7 gene related products
- Applied Biological Materials CRISPR for TBC1D7
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBC1D7
- GenScript: Design CRISPR guide RNA sequences for TBC1D7
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for TBC1D7
- Browse OriGene Inhibitory RNA Products For TBC1D7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D7
- genomics-online: shRNA clones - Search results for 142 available TBC1D7 gene related products
- Overview of 142 available TBC1D7 gene related products
Clone Products
-
OriGene ORF clones in human for TBC1D7
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for TBC1D7
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TBC1D7
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TBC1D7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBC1D7
- Applied Biological Materials Clones for TBC1D7
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | ^ | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | - | - | - |
Expression for TBC1D7 Gene
This gene is overexpressed in Fetal Brain (21.8), Frontal cortex (16.1), and Testis (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TBC1D7 Gene
NURSA nuclear receptor signaling pathways regulating expression of TBC1D7 Gene:
TBC1D7SOURCE GeneReport for Unigene cluster for TBC1D7 Gene:
Hs.484678mRNA Expression by UniProt/SwissProt for TBC1D7 Gene:
Q9P0N9-TBCD7_HUMAN
Tissue specificity:
Highly expressed in heart, and slightly in kidney, liver and placenta.
Evidence on tissue expression from TISSUES for TBC1D7 Gene
- Nervous system(4.4)
- Kidney(4.3)
- Blood(4.1)
- Eye(4.1)
- Skin(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D7 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- endocrine
- integumentary
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- chin
- cranial nerve
- eye
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- skull
- tooth
Abdomen:
- adrenal gland
General:
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs and template standards for TBC1D7
-
OriGene qPCR primer pairs for TBC1D7
- genomics-online: primer clones - Search results for 142 available TBC1D7 gene related products
- Overview of 142 available TBC1D7 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TBC1D7 Gene
Orthologs for TBC1D7 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TBC1D7 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TBC1D7 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TBC1D7 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | TBC1D7 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TBC1D7 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Tbc1d7 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Tbc1d7 16 34 33 |
|
||
| chicken (Gallus gallus) |
Aves | TBC1D7 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | TBC1D7 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tbc1d7 33 |
|
||
| Str.16760 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.20842 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tbc1d7 34 33 |
|
OneToOne | |
| zgc73291 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002392 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG6182 34 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for TBC1D7 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- 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)
- worm (Caenorhabditis elegans)
Evolution for TBC1D7 Gene
- ENSEMBL:
- Gene Tree for TBC1D7 (if available)
- TreeFam:
- Gene Tree for TBC1D7 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TBC1D7: view image
Paralogs for TBC1D7 Gene
(1) SIMAP similar genes for TBC1D7 Gene using alignment to 14 proteins:
- TBCD7_HUMAN
- B4DK47_HUMAN
- Q5SZL3_HUMAN
- Q5SZL4_HUMAN
- Q5SZL5_HUMAN
- Q5SZL6_HUMAN
- Q5SZL8_HUMAN
- Q5SZM1_HUMAN
- Q5SZM2_HUMAN
- U3KPS8_HUMAN
- U3KPY5_HUMAN
- U3KQ23_HUMAN
- U3KQD8_HUMAN
- U3KQQ0_HUMAN
No data available for Paralogs for TBC1D7 Gene
Variants for TBC1D7 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs483352922 | pathogenic, Macrocephaly | 13,307,727(-) | A/ | coding_sequence_variant, frameshift, genic_downstream_transcript_variant | |
| rs587777652 | pathogenic, Macrocephaly | 13,326,878(-) | TCTCT/T | coding_sequence_variant, frameshift | |
| rs80189640 | likely-benign, not specified | 13,316,677(-) | G/T | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant | |
| rs9381921 | likely-benign, not specified | 13,316,684(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant | |
| rs1000203086 | -- | 13,315,721(-) | A/G | genic_downstream_transcript_variant, intron_variant |
Residual Variation Intolerance Score:
67.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.51;
55.40% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TBC1D7 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TBC1D7 Gene
Disorders for TBC1D7 Gene
(5) MalaCards diseases for TBC1D7 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| macrocephaly/megalencephaly syndrome, autosomal recessive |
|
|
| isolated megalencephaly |
|
|
| megalencephaly |
|
|
| astigmatism |
|
|
| tuberous sclerosis |
|
|
Search TBC1D7 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TBCD7_HUMAN- Macrocephaly/megalencephaly syndrome, autosomal recessive (MGCPH) [MIM:248000]: A disorder characterized by abnormal enlargement of the cerebral hemispheres, mental retardation, large head, optic atrophy and underdeveloped skeletal musculature. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Additional clinical features include behavioral abnormalities, psychosis, learning difficulties, prognathism, myopia and astigmatism. {ECO:0000269 PubMed:23687350, ECO:0000269 PubMed:24515783}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TBC1D7
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TBC1D7 Gene
Publications for TBC1D7 Gene
- Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 58
- Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7). (PMID: 26893383) Qin J … Xu W (The Journal of biological chemistry 2016) 2 3 58
- TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease. (PMID: 24515783) Alfaiz AA … Reymond A (Human mutation 2014) 3 4 58
- 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 4 58
- TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. (PMID: 22795129) Dibble CC … Manning BD (Molecular cell 2012) 3 4 58
Products for TBC1D7 Gene
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- antibodies-online: Search results for 16 available TBC1D7 Antibodies ranked by validation data
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- Quality Products:
- Search GeneTex for Antibodies for TBC1D7
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- genomics-online: cdna clones - Search results for 142 available TBC1D7 gene related products
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- Boster Bio Antibodies for TBC1D7
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Sources for TBC1D7 Gene
- (1) GeneCards
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- (33) HomoloGene
- (34) PanEnsembl
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- (37) FlyBase
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