DNAJB1
DnaJ heat shock protein family (Hsp40) member B1
Summary
This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7258365 | 19:14,626,472 | G/T | regulatory region variant | — |
| rs150137137 | 19:14,626,766 | C/A | — | uncertain significance |
| rs750634405 | 19:14,626,777 | A/G | — | uncertain significance |
| rs138234955 | 19:14,626,787 | A/T | — | uncertain significance |
| rs1400322538 | 19:14,626,804 | T/C | — | uncertain significance |
| rs758885471 | 19:14,626,844 | G/A | — | uncertain significance |
| rs1259860352 | 19:14,626,861 | G/A | — | uncertain significance |
| rs1269803421 | 19:14,626,883 | G/T | — | uncertain significance |
| rs143320658 | 19:14,626,895 | G/A | — | uncertain significance |
| rs2230251 | 19:14,626,911 | A/G | — | benign |
| rs374296355 | 19:14,626,925 | C/T | — | uncertain significance |
| rs2230250 | 19:14,626,959 | G/A | — | benign |
| rs2072266868 | 19:14,627,384 | T/C | — | uncertain significance |
| rs2512935417 | 19:14,627,393 | T/C | — | uncertain significance |
| rs769796405 | 19:14,627,642 | T/C | — | uncertain significance |
| rs753013282 | 19:14,627,664 | T/C | — | uncertain significance |
| rs766733011 | 19:14,627,667 | G/A | — | uncertain significance |
| rs777046843 | 19:14,627,752 | G/A | — | likely benign |
| rs373025639 | 19:14,627,767 | C/T | — | uncertain significance |
| rs369749322 | 19:14,627,813 | T/C | — | uncertain significance |
| rs376653817 | 19:14,627,853 | T/G | — | uncertain significance |
| rs149631311 | 19:14,629,027 | G/T | — | uncertain significance |
| rs370382932 | 19:14,629,043 | C/G | — | uncertain significance |
| rs1172409599 | 19:14,629,048 | C/A | — | uncertain significance |
| rs1329583135 | 19:14,629,074 | G/A | — | uncertain significance |
| rs148338323 | 19:14,629,120 | G/C | — | benign |
| rs201552567 | 19:14,629,131 | G/T | — | uncertain significance |
| rs1341043222 | 19:14,629,133 | C/T | — | uncertain significance |
| rs1207240675 | 19:14,629,146 | A/G | — | uncertain significance |
| rs3962158 | 19:14,629,150 | G/A | synonymous variant | — |
| rs4926125 | 19:14,643,499 | C/T | upstream gene variant | — |
| rs772111893 | 19:14,665,128 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.