TBC1D7 (TBC1 domain family member 7)

Gene Basic Information

Gene Basic Information

symbol
TBC1D7
locus group
protein-coding gene
location
6p24.1
gene_family
-
alias symbol
dJ257A7.3|FLJ32666
alias name
TS complex subunit 3
entrez id
51256
ensembl gene id
ENSG00000145979
ucsc gene id
uc063lxp.1
refseq accession
NM_016495
hgnc_id
HGNC:21066
approved reserved
2003-05-14

Chromosome Location

Chromosome Location

6p24.1

Gene Summary

Gene Summary

ChineseEnglish

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. [provided by RefSeq, Dec 2013]

OMIM entry for TBC1D7     Wikipedia entry for TBC1D7

Gene Sequence

Gene Sequence

Nucleotide sequence of TBC1D7:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MTEDSQRNFR SVYYEKVGFR GVEEKKSLEI LLKDDRLDTE
41KLCTFSQRFP LPSMYRALVW KVLLGILPPH HESHAKVMMY
81 RKEQYLDVL HALKVVRFVS DATPQAEVYL RMYQLESGKL
121PRSPSFPLEP DDEVFLAIAK AMEEMVEDSV DCYWITRRFV
161N QLNTKYRD SLPQLPKAFE QYLNLEDGRL LTHLRMCSAA
201PKLPYDLWFK RCFAGCLPES SLQRVWDKVV SGSCKILVFV
241AV EILLTFK IKVMALNSAE KITKFLENIP QDSSDAIVSK
281AIDLWHKHCG TPVHSS
Structure predicted by AlphaFold DB(UniProt: Q9P0N9). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of TBC1D7:           Showing partial SNPs
rs480122       rs480329       rs482227       rs498338       rs538190       rs543580       rs555100       rs559205       rs563130       rs860266       rs957175       rs957176       rs1112851       rs1398298       rs1512413       rs1899262       rs2439534      

Gene Expression

Gene Expression

Tissue expression of TBC1D7:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
GTGTCCCAGAATGAAATATGACTG
59
TTTCTTCAACTCCACGAAACC
59
ATGACCGTCTGGATACTGAG
58
CTTCCATACCAATGCACGG
59
CTACATCTGGTGAAGGCCT
58
CATCATCTGGCTCCATGTG
58
GCTGAAGTCTATCTCCGCA
59
TTCATCATCTGGCTCCAGTG
59
CAATAAGGAAGGAAGCCCTC
58
TCTCTGAGAGTCCTCAGTC
57
ATAAGGAAGGAAGCCCTCC
58
TTCTCTGAGAGTCCTCAGTC
57
GCTGAAGTCTATCTCCGCA
59
TCATCATCTGGCTCCAGTG
59
TGACCGTCTGGATACTGAG
58
CCTTCCATACCAATGCACG
59
GGGCTACATCTGGTGAAGG
59
ATCTGGCTCCATGTGATAGC
59
GTGTCCCAGAATGAAATATGAC
57
TCTTCAACTCCACGAAACC
57

Gene Ontology

Subcellular localization of TBC1D7 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for TBC1D7:

GO ID
Protein
Source DB
GO:0005096
Q9P0N9 (UniProtKB)
IDA
GO:0005515
Q9P0N9 (UniProtKB)
IPI
GO:0005515
Q9P0N9 (UniProtKB)
IPI
GO:0005515
Q9P0N9 (UniProtKB)
IPI
GO:0005515
Q9P0N9 (UniProtKB)
IPI
GO:0005515
Q9P0N9 (UniProtKB)
IPI
GO:0005515
Q9P0N9 (UniProtKB)
IPI
GO:0005515
Q9P0N9 (UniProtKB)
IPI
GO:0005515
Q9P0N9 (UniProtKB)
IPI
GO:0005515
Q9P0N9 (UniProtKB)
IPI
GO:0005515
Q9P0N9 (UniProtKB)
IPI
GO:0016023
Q9P0N9 (UniProtKB)
IEA
GO:0017137
Q9P0N9 (UniProtKB)
IPI
GO:0031398
Q9P0N9 (UniProtKB)
IDA
GO:0031410
Q9P0N9 (UniProtKB)
IDA
GO:0032007
Q9P0N9 (UniProtKB)
IMP
GO:0036064
Q9P0N9 (UniProtKB)
IDA
GO:0070848
Q9P0N9 (UniProtKB)
IMP
GO:0090630
Q9P0N9 (UniProtKB)
IMP
GO:1902018
Q9P0N9 (UniProtKB)
IMP

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
Loading…
Interacting Gene Interaction Source/Score

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Large head (disorder) 0.12 0 2 CLINVAR
Cardiovascular Diseases 0.002367032 1 1 GAD
Intellectual Disability 0.000814326 3 0 BeFree
Macroencephaly 0.000271442 1 0 BeFree
Macrocephaly 0.000271442 1 0 BeFree
Tuberous Sclerosis 0.000271442 1 0 BeFree
Malignant neoplasm of lung 0.000271442 1 0 BeFree
Non-Small Cell Lung Carcinoma 0.000271442 1 0 BeFree
Celiac Disease 0.000271442 1 0 BeFree
Carcinoma of lung 0.000271442 1 0 BeFree

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