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0 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ELAPOR2
endosome-lysosome associated apoptosis and autophagy regulator family member 2
Chromosome 7 Β· 7q21.12
NCBI Gene: 222223Ensembl: ENSG00000164659.16HGNC: HGNC:21945UniProt: A8MWY0
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingBMP receptor bindingpositive regulation of BMP signaling pathwaypositive regulation of epidermis developmentresponse to stimuluschronic fatigue syndromegeneralized dystoniathyroiditis
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

endosome-lysosome associated apoptosis and autophagy regulator family member 2

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
response to stimulusOpen Targets
0.33Weak
chronic fatigue syndromeOpen Targets
0.28Weak
generalized dystoniaOpen Targets
0.28Weak
thyroiditisOpen Targets
0.28Weak
ACPA-positive rheumatoid arthritisOpen Targets
0.27Weak
cholelithiasisOpen Targets
0.26Weak
aseptic looseningOpen Targets
0.26Weak
revision of total joint arthroplastyOpen Targets
0.25Weak
systemic lupus erythematosusOpen Targets
0.17Weak
alcohol drinkingOpen Targets
0.06Suggestive
hearing lossOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
neurotic disorderOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.03Suggestive
facial painOpen Targets
0.03Suggestive
mathematical abilityOpen Targets
0.03Suggestive
hyperaldosteronismOpen Targets
0.03Suggestive
Abnormality of refractionOpen Targets
0.03Suggestive
smoking initiationOpen Targets
0.02Suggestive
AnxietyOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
KCPShared pathway50%ARK2CShared pathway33%TMEM79Shared pathway25%SCUBE3Shared pathway25%NGLY1Shared pathway25%ZNF423Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Lung
45%
Heart
33%
Bone Marrow
18%
Ovary
10%
Liver
4%
Gene Interaction Network
Click a node to explore
ELAPOR2KCPARK2CTMEM79SCUBE3NGLY1ZNF423
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A8MWY0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.62–0.94]
RankingsWhere ELAPOR2 stands among ~20K protein-coding genes
  • #15,855of 20,598
    Most Researched14
  • #8,734of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedELAPOR2
Sources retrieved0 papers
Response timeβ€”