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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 variant... See more...
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 TBC/RABGAPs and mTOR signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rab GTPase binding.
UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for TBC1D7 Gene
Genomics for TBC1D7 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TBC1D7 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 TBC1D7 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D7
- Top Transcription factor binding sites by QIAGEN in the TBC1D7 gene promoter:
-
- ATF-2
- CRE-BP1
- En-1
- FOXD1
- Ik-1
- ISGF-3
- LCR-F1
- Nkx2-5
- Pax-2a
- STAT5A
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)
- Size:
- 62,042 bases
- Orientation:
- Minus strand
Genomic View for TBC1D7 Gene
Genes around TBC1D7 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p24.1 by HGNC
- 6p24.1 by Entrez Gene
- 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).
Three dimensional structures from OCA and Proteopedia for TBC1D7 Gene
Protein Expression for TBC1D7 Gene
Post-translational modifications for TBC1D7 Gene
Other Protein References for TBC1D7 Gene
- ENSEMBL proteins:
-
- ENSP00000475727
- ENSP00000401438
- ENSP00000348813
- ENSP00000368602
- ENSP00000475191
- ENSP00000414292
- ENSP00000404680
- ENSP00000394425
- ENSP00000417005
- ENSP00000412102
- ENSP00000414101
- ENSP00000401339
- ENSP00000368593
- ENSP00000475355
- ENSP00000475795
- ENSP00000476109
- ENSP00000475469
- ENSP00000343100
- ENSP00000368609
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TBC1D7
- Novus Biologicals Antibodies for TBC1D7
- Invitrogen Antibodies for TBC1D7 (AFLGC-TBC1D7)
-
Biorbyt 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: Show 4 available TBC1D7 Proteins ranked by validation data
- Compare Top TBC1D7 Proteins
-
Quality Products:
-
Abcam proteins for TBC1D7
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:
-
- RabGAP/TBC domain
- ProtoNet:
Suggested Antigen Peptide Sequences for TBC1D7 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ32666 fis, clone TESTI1000096 (Q96MB8_HUMAN)
- Cell migration-inducing protein 23 (TBCD7_HUMAN)
No data available for Graphical View of Domain Structure and 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 | IBA,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
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TBC1D7 - Select products 50% OFF >
- * TBC1D7 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for TBC1D7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBC1D7
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBC1D7
miRNA for TBC1D7 Gene
- miRTarBase miRNAs that target TBC1D7
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, 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
Clone Products
- Applied Biological Materials (abm): Clones for TBC1D7 - Select products 50% OFF >
- * TBC1D7 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG220454
- MR220454
- MR220454L3
- MR220454L4
- MR228818
- MR229059
- RC202792
- RC202792L3
- RC202792L4
- RC226837
- RC226837L3
- RC226837L4
- RC226903
- RC226903L3
- RC226903L4
- RC226958
- RC226958L3
- RC226958L4
- RC232272
- RG202792
- RG226837
- RG226903
- RG226958
- RG232272
- RR210492
- RR210492L3
- RR210492L4
- MR220454L3V
- MR220454L4V
- RC202792L3V
- RC202792L4V
- RC226837L3V
- RC226837L4V
- RC226903L3V
- RC226903L4V
- RC226958L3V
- RC226958L4V
- RR210492L3V
- RR210492L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TBC1D7
- Addgene plasmids for TBC1D7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBC1D7
Cell Line Products
-
Horizon Cell Lines for TBC1D7
No data available for Enzyme Numbers (IUBMB) , 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 | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| nucleus | 2 |
| endosome | 2 |
| lysosome | 2 |
| extracellular | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0031410 | cytoplasmic vesicle | IEA,IDA | 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) |
.38
|
|
| 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
ENSP00000475727
for TBC1D7 Gene via
UniProtKB
STRING
IID
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
- 7 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000343141 1027 nts (view in UCSC)
- ENST00000356436 1116 nts (view in UCSC)
- ENST00000379291 693 nts (view in UCSC)
- ENST00000379300 1282 nts (view in UCSC)
- ENST00000379307 1084 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TBC1D7 - Select products 50% OFF >
- * TBC1D7 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TBC1D7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBC1D7
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBC1D7
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, 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
Clone Products
- Applied Biological Materials (abm): Clones for TBC1D7 - Select products 50% OFF >
- * TBC1D7 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG220454
- MR220454
- MR220454L3
- MR220454L4
- MR228818
- MR229059
- RC202792
- RC202792L3
- RC202792L4
- RC226837
- RC226837L3
- RC226837L4
- RC226903
- RC226903L3
- RC226903L4
- RC226958
- RC226958L3
- RC226958L4
- RC232272
- RG202792
- RG226837
- RG226903
- RG226958
- RG232272
- RR210492
- RR210492L3
- RR210492L4
- MR220454L3V
- MR220454L4V
- RC202792L3V
- RC202792L4V
- RC226837L3V
- RC226837L4V
- RC226903L3V
- RC226903L4V
- RC226958L3V
- RC226958L4V
- RR210492L3V
- RR210492L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TBC1D7
- Addgene plasmids for TBC1D7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBC1D7
| 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: | - | - | - | - | - | - | - |
Relevant External Links for TBC1D7 Gene
- GeneLoc Exon Structure for
- TBC1D7
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D7
SOURCE 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(4.6)
- Kidney(4.5)
- Blood(4.4)
- Eye(4.2)
- Skin(3)
- Heart(2.2)
- Muscle(2.1)
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 for TBC1D7
-
OriGene qPCR primer pairs and template standards for TBC1D7
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TBC1D7 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TBC1D7 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TBC1D7 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TBC1D7 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tbc1d7 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Tbc1d7 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TBC1D7 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TBC1D7 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tbc1d7 30 |
|
||
| Str.16760 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.20842 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tbc1d7 30 31 |
|
OneToOne | |
| zgc73291 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002392 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG6182 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for TBC1D7 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 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)
- 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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D7 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 725677 | Likely Benign: not provided | 13,307,672(-) | G/A | MISSENSE_VARIANT | |
| 727217 | Benign: not provided | 13,307,677(-) | G/A | SYNONYMOUS_VARIANT | |
| 752023 | Likely Benign: not provided | 13,321,076(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 770546 | Benign: not provided | 13,306,515(-) | T/C | SYNONYMOUS_VARIANT | |
| 776111 | Benign: not provided | 13,307,671(-) | C/T | SYNONYMOUS_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
(9) MalaCards diseases for TBC1D7 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| macrocephaly/megalencephaly syndrome, autosomal recessive |
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| isolated megalencephaly |
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| megalencephaly |
|
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| tuberous sclerosis |
|
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| astigmatism |
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|
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
- 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
- TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease. (PMID: 24515783) Alfaiz AA … Reymond A (Human mutation 2014) 3 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 4
- TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. (PMID: 22795129) Dibble CC … Manning BD (Molecular cell 2012) 3 4
ExternalLinks
Products for TBC1D7 Gene
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