RBCC Red Blood Cell Collection

DNJB2_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: DNAJB2 , HSJ1, HSPF3
Protein names and data: DNJB2_HUMAN , DnaJ homolog subfamily B member 2 , DnaJ protein homolog 1; Heat shock 40 kDa protein 3; Heat shock protein J1; HSJ-1 Lenght: 324 a.a.
Mass: 35580 Da
fasta formatted sequence
Disease: ( OMIM: 604139 614881 ) Distal spinal muscular atrophy, autosomal recessive, 5 (DSMA5) [MIM:614881]: An autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity: Brain (neuronal layers). Weakly, in skeletal muscle and spleen.

Genetic variants

270 - 270 G -> R (in dbSNP:rs34127289). VAR_048910 34127289

Database cross-references

UniProt: P25686
Ensembl: ENST00000336576
Ensembl: ENST00000392086
MIM: 604139
MIM: 614881
neXtProt: NX_P25686
Antibodypedia: P25686 (may not find the protein thus also not any antibody)
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