TBC1D7

Chr 6p24.1

TBC1 domain family member 7

Aliases:: dJ257A7.3, FLJ32666, TBC7
MANE:: ENST00000379300.8

OMIM: 612655 ↗NCBI: 51256 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TBC1D7 · Q9P0N9

v62025-08-01

Predicted Aligned Error matrix for TBC1D7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.7/ 100

Very high

293 residues

Confidence breakdown

Very high(≥ 90)89%
Confident(70–90)2%
Low(50–70)5%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Neurological segmental overgrowth
BIALLELIC, autosomal or pseudoautosomal
Segmental overgrowth disorders - Deep sequencing
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

macrocephaly/megalencephaly syndrome, autosomal recessive
0.60
genetic developmental and epileptic encephalopathy
0.50
neurodegenerative disease
0.46
megalencephaly
0.37
isolated megalencephaly
0.37
Macrocephaly
0.34
placental abruption
0.32
benign neoplasm of eye
0.28
Abnormal erythrocyte morphology
0.20
Abnormality of the skeletal system
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

TBC1 domain family member 7

Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:22795129, PubMed:24529379). The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 (PubMed:22795129, PubMed:24529379). In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signaling (PubMed:22795129). The TSC-TBC complex is inactivated in response to nutrients, relieving inhibition of mTORC1 (PubMed:24529379)