RBCC Red Blood Cell Collection

ERLN2_HUMAN

Source: PM23856902
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: ERLIN2 , C8orf2, SPFH2 , UNQ2441/PRO5003/PRO9924
Protein names and data: ERLN2_HUMAN , Erlin-2 , Endoplasmic reticulum lipid raft-associated protein 2; Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2; SPFH domain-containing protein 2 Lenght: 339 a.a.
Mass: 37840 Da
fasta formatted sequence
Function: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Also involved in ITPR1 degradation by the ERAD pathway.
Disease: ( OMIM: 611225 611605 ) Spastic paraplegia 18, autosomal recessive (SPG18) [MIM:611225]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG18 is a severe form with onset in early childhood. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Note=Associated with lipid raft-like domains of the endoplasmic reticulum membrane.
Tissue specificity: Ubiquitous.

Genetic variants

71 - 71 V -> A (in dbSNP:rs2032066). VAR_059140 2032066

Database cross-references

UniProt: O94905
Ensembl: ENST00000276461
Ensembl: ENST00000335171
Ensembl: ENST00000397228
Ensembl: ENST00000518586
Ensembl: ENST00000519638
Ensembl: ENST00000523107
Ensembl: ENST00000523887
MIM: 611225
MIM: 611605
neXtProt: NX_O94905
Antibodypedia: O94905 (may not find the protein thus also not any antibody)
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