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GeneE
0 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TBC1D2
TBC1 domain family member 2
Chromosome 9 Β· 9q22.33
NCBI Gene: 55357Ensembl: ENSG00000095383.20HGNC: HGNC:18026UniProt: Q9BYX2
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell junctioncytoplasmic vesicleprotein bindingcadherin bindinghypothyroidismthyroid diseasespermatoceleself-injurious ideation
✦AI Summary

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TBC1 domain family member 2

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
hypothyroidismOpen Targets
0.45Moderate
thyroid diseaseOpen Targets
0.33Weak
spermatoceleOpen Targets
0.31Weak
self-injurious ideationOpen Targets
0.31Weak
ovarian neoplasmOpen Targets
0.29Weak
cervical carcinomaOpen Targets
0.28Weak
Hashimoto's thyroiditisOpen Targets
0.27Weak
systemic lupus erythematosusOpen Targets
0.26Weak
type 2 diabetes mellitusOpen Targets
0.25Weak
smoking initiationOpen Targets
0.24Weak
hypertrophic cardiomyopathyOpen Targets
0.24Weak
preeclampsiaOpen Targets
0.12Weak
brain aneurysmOpen Targets
0.12Weak
familial glucocorticoid deficiencyOpen Targets
0.12Weak
duodenitisOpen Targets
0.11Weak
Abnormality of the genital systemOpen Targets
0.11Weak
balanoposthitisOpen Targets
0.07Suggestive
schizophreniaOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.03Suggestive
ovarian cancerOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
RAB7AProtein interaction86%EVI5Shared pathway67%TBC1D3Shared pathway50%TBC1D16Shared pathway50%TBC1D22BShared pathway50%TBC1D19Shared pathway50%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
46%
Liver
32%
Ovary
8%
Brain
7%
Heart
5%
Gene Interaction Network
Click a node to explore
TBC1D2RAB7AEVI5TBC1D3TBC1D16TBC1D22BTBC1D19
PROTEIN STRUCTURE
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PDB2DHK Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.80LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.52–0.80]
RankingsWhere TBC1D2 stands among ~20K protein-coding genes
  • #12,254of 20,598
    Most Researched29
  • #6,601of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedTBC1D2
Sources retrieved0 papers
Response timeβ€”