DNAJB2 DnaJ heat shock protein family (Hsp40) member B2

Information
Symbol
DNAJB2
Type
protein-coding
Description
DnaJ heat shock protein family (Hsp40) member B2
Entrez Gene ID
3300
Genome
hg19
Position
chr2:220,144,088-220,151,617
Genome
hg38
Position
chr2:219,279,366-219,286,895
MIM
604139 OMIM
HGNC
HGNC:5228 HGNC
Ensembl
ENSG00000135924 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 20
Benign 0 36
Likely benign 0 240
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 244
Ranking
ClinVar
0
0
90
464
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CMT2T
SYNONYM DSMA5
SYNONYM HMNR5
SYNONYM HSJ-1
SYNONYM HSJ1
SYNONYM HSPF3
MIM 604139 OMIM
HGNC HGNC:5228 HGNC
Ensembl ENSG00000135924 Ensembl
AllianceGenome HGNC:5228
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392086.8 hg38 chr2 219,279,344 219,286,898 7,555
ENST00000336576.10 hg38 chr2 219,279,366 219,286,895 7,530
ENST00000392086.8 hg19 chr2 220,144,066 220,151,620 7,555
ENST00000336576.10 hg19 chr2 220,144,088 220,151,617 7,530
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