DNAJB12 - DnaJ heat shock protein family (Hsp40) member B12 Gene

Also Known as DJ10

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54788

About DNAJB12

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:72,332,863-72,354,919 (from NCBI)

This gene has 6 transcripts (splice variants), 283 orthologues and 11 paralogues. Ubiquitous expression in testis (RPKM 9.5), kidney (RPKM 9.2) and 25 other tissues.

Summary

DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]

DNAJB12 Products (4)

mRNA Protein Name
NM_001002762.5 NP_001002762.3 dnaJ homolog subfamily B member 12 isoform 1
NM_001365080.3 NP_001352009.1 dnaJ homolog subfamily B member 12 isoform 2
NM_001365081.3 NP_001352010.1 dnaJ homolog subfamily B member 12 isoform 1
NM_017626.7 NP_060096.4 dnaJ homolog subfamily B member 12 isoform 1
Molecular Function GO Annotation Evidence References Source
enables Hsp70 protein binding IPI
IPI: Inferred from physical interaction
21148293 GOA
Biological Process GO Annotation Evidence References Source
involved in ERAD pathway IDA
IDA: Inferred from direct assay
21148293 GOA
involved in cellular response to misfolded protein IDA
IDA: Inferred from direct assay
21148293 GOA
involved in chaperone cofactor-dependent protein refolding IDA
IDA: Inferred from direct assay
27916661 GOA
involved in protein-containing complex assembly IDA
IDA: Inferred from direct assay
27916661 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
27916661 GOA
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
21148293 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNAJB12 Protein Structure

DnaJ

DnaJ: DnaJ domain (144 - 205)

DUF1977

DUF1977: Domain of unknown function (DUF1977) (296 - 402)

  • 0
  • 100
  • 200
  • 300
  • 409 a.a.
Protein Preferred Names Protein Names

dnaJ homolog subfamily B member 12

  • DnaJ (Hsp40) homolog, subfamily B, member 12

Related Diseases

Diseases Alias
Niemann-Pick Disease, Type C2
  • NPC2

  • Niemann-Pick Disease Type C2

  • Niemann-Pick C2 Disease

  • Niemann-Pick Disease C2

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus DNAJB12 MGD MGI:1931881
Rattus norvegicus DNAJB12 RGD RGD:1359677
Bos taurus DNAJB12 VGNC VGNC:55983
Macaca mulatta DNAJB12 VGNC VGNC:106032
Others DNAJB12 NCBI