HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
R3HDML
R3H domain containing like
Chromosome 20 · 20q13.12
NCBI Gene: 140902Ensembl: ENSG00000101074.5HGNC: HGNC:16249UniProt: Q9H3Y0
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615extracellular regiontype 2 diabetes mellitusDistal myopathy, Nonaka typemyopathy, distal, 5GNE myopathy
✦AI Summary

R3HDML (R3H domain containing like) is a secreted protein with emerging roles in skeletal muscle physiology and metabolic disease susceptibility. Primary function: R3hdml regulates satellite cell proliferation and differentiation, which are essential for skeletal muscle development and regeneration 1. During normal muscle development, R3hdml expression increases, and knockout mice exhibit reduced body weight, skeletal muscle mass, and impaired recovery of muscle strength following cardiotoxin-induced injury 1. The protein appears to function through modulation of cell cycle markers, Akt phosphorylation, and insulin-like growth factor signaling within muscle tissue 1. Disease relevance: R3HDML has been identified as a susceptibility locus for type 2 diabetes mellitus in multiple independent populations 234. The locus spans FITM2-R3HDML-HNF4A, with variants associated with T2DM risk in both East Asian and American Indian cohorts 23. Additionally, R3HDML has been implicated in burning mouth syndrome through multivariate genomic analysis 5 and associated with depressive symptoms in schizophrenia 6. R3hdml expression is also altered in drug-induced liver injury contexts 7. Clinical significance: As a metabolically-relevant gene at a validated T2DM locus, R3HDML represents a potential therapeutic target for metabolic and neuropsychiatric conditions.

Sources cited
1
R3hdml is a satellite cell-secreted protein required for skeletal muscle development, regeneration, and satellite cell proliferation/differentiation; knockout mice show reduced muscle mass and impaired recovery after injury
PMID: 31524320
2
R3HDML locus (within FITM2-R3HDML-HNF4A) identified as a new type 2 diabetes susceptibility locus in East Asian populations through meta-analysis of GWAS
PMID: 22158537
3
SNPs within FITM2-R3HDML-HNF4A associated with T2DM in American Indians, with evidence of population-specific genetic signals distinct from East Asian lead SNPs
PMID: 27862917
4
R3HDML locus variant (rs6017317) replicated for T2DM association in independent Japanese population through genetic risk score analysis
PMID: 24086726
5
R3HDML identified as fine-mapped credible variant for latent burning mouth syndrome factor through multivariate genomic SEM analysis
PMID: 41067425
6
R3HDML significantly associated with depressive symptoms in schizophrenia through gene-based family association analysis on chromosome 20
PMID: 22220189
7
R3hdml upregulated in mouse liver during drug-induced liver injury induced by bavachin and epimedin B under immunological stress
PMID: 37866487
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.06Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.06Suggestive
myopathy, distal, 5Open Targets
0.06Suggestive
GNE myopathyOpen Targets
0.05Suggestive
exercise intolerance, riboflavin-responsiveOpen Targets
0.05Suggestive
tibial muscular dystrophyOpen Targets
0.05Suggestive
distal myopathy, Welander typeOpen Targets
0.05Suggestive
myofibrillar myopathy 3Open Targets
0.05Suggestive
Distal myotilinopathyOpen Targets
0.05Suggestive
Autosomal dominant limb-girdle muscular dystrophy type 1DOpen Targets
0.05Suggestive
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiencyOpen Targets
0.05Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2HOpen Targets
0.05Suggestive
distal myopathyOpen Targets
0.05Suggestive
Hereditary proximal myopathy with early respiratory failureOpen Targets
0.05Suggestive
Congenital myasthenic syndromesOpen Targets
0.05Suggestive
myopathy, distal, 6, adult-onset, autosomal dominantOpen Targets
0.05Suggestive
autosomal dominant childhood-onset proximal spinal muscular atrophy without contracturesOpen Targets
0.05Suggestive
polyglucosan body myopathy type 2Open Targets
0.05Suggestive
limb-girdle muscular dystrophy-dystroglycanopathy, type c1Open Targets
0.05Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2GOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GARTProtein interaction83%FITM2Protein interaction78%ZFAND3Co-mentioned in literature29%
Tissue Expression6 tissues
Liver
100%
Ovary
15%
Bone Marrow
15%
Brain
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
R3HDMLGARTFITM2ZFAND3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H3Y0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.57–1.20]
RankingsWhere R3HDML stands among ~20K protein-coding genes
  • #17,691of 20,598
    Most Researched8
  • #12,593of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedR3HDML
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Bavachin combined with epimedin B induce idiosyncratic liver injury under immunological stress conditions.
PMID: 37866487
Chem Biol Interact · 2023
1.00
2
R3hdml regulates satellite cell proliferation and differentiation.
PMID: 31524320
EMBO Rep · 2019
0.86
3
Multivariate genomic analysis elucidates the genetic architecture of shared components of burning mouth syndrome.
PMID: 41067425
J Stomatol Oral Maxillofac Surg · 2026
0.71
4
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
PMID: 22158537
Nat Genet · 2011
0.57
5
Comprehensive gene-based association study of a chromosome 20 linked region implicates novel risk loci for depressive symptoms in psychotic illness.
PMID: 22220189
PLoS One · 2011
0.43