DNAJB2 gene

DnaJ heat shock protein family (Hsp40) member B2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]

From NCBI Gene:

  • Spinal muscular atrophy, distal, autosomal recessive, 5
  • Charcot-Marie-Tooth disease, axonal, type 2T

From UniProt:

Charcot-Marie-Tooth disease 2T (CMT2T): An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. [MIM:616233]

Distal spinal muscular atrophy, autosomal recessive, 5 (DSMA5): 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. [MIM:614881]

Cytogenetic Location: 2q35, which is the long (q) arm of chromosome 2 at position 35

Molecular Location: base pairs 219,279,318 to 219,286,900 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q35, which is the long (q) arm of chromosome 2 at position 35
  • CMT2T
  • DSMA5
  • HSJ-1
  • HSJ1
  • HSPF3