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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GRAMD2B
GRAM domain containing 2B
Chromosome 5 Β· 5q23.2
NCBI Gene: 65983Ensembl: ENSG00000155324.11HGNC: HGNC:24911UniProt: Q96HH9
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingidentical protein bindingcytoplasmic microtubulecytoplasmtype 2 diabetes mellitusdiabetic nephropathygranuloma annulareprolapse of female genital organ
✦AI Summary

Based on limited published evidence, GRAMD2B is a GRAM domain-containing protein localized to cytoplasmic microtubules with roles in protein binding and identical protein binding interactions. A genome-wide association study identified a GRAMD2B promoter variant (rs2112481) associated with serum leucocyte concentration in type 1 diabetes 1, suggesting potential involvement in immune-related phenotypes, though the functional mechanism remains undefined.

Sources cited
1
GRAMD2B promoter variant rs2112481 associated with serum leucocyte concentration in type 1 diabetes cohort
PMID: 32077919
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
type 2 diabetes mellitusOpen Targets
0.31Weak
diabetic nephropathyOpen Targets
0.31Weak
granuloma annulareOpen Targets
0.27Weak
prolapse of female genital organOpen Targets
0.27Weak
gallbladder diseaseOpen Targets
0.26Weak
eye injuryOpen Targets
0.25Weak
DNA methylationOpen Targets
0.20Weak
smoking initiationOpen Targets
0.20Weak
Abnormality of limbsOpen Targets
0.18Weak
testicular diseaseOpen Targets
0.18Weak
exostosisOpen Targets
0.17Weak
female infertilityOpen Targets
0.17Weak
mixed connective tissue diseaseOpen Targets
0.17Weak
hyperpituitarismOpen Targets
0.17Weak
intestinal diseaseOpen Targets
0.16Weak
adverse effectOpen Targets
0.16Weak
response to stimulusOpen Targets
0.16Weak
MODYOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
GRAMD1CProtein interaction78%GRAMD1BProtein interaction78%PAEPProtein interaction74%
Tissue Expression6 tissues
Ovary
100%
Brain
89%
Heart
69%
Liver
61%
Lung
30%
Bone Marrow
15%
Gene Interaction Network
Click a node to explore
GRAMD2BGRAMD1CGRAMD1BPAEP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96HH9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.22LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.50–1.22]
RankingsWhere GRAMD2B stands among ~20K protein-coding genes
  • #10,629of 20,598
    Most Researched37
  • #12,891of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedGRAMD2B
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Genome-wide association study on coronary artery disease in type 1 diabetes suggests beta-defensin 127 as a risk locus.
PMID: 32077919
Cardiovasc Res Β· 2021
1.00