DNAJC21 (DnaJ heat shock protein family (Hsp40) member C21)

2017-08-01  

Identity

HGNC
LOCATION
5p13.2
LOCUSID
ALIAS
BMFS3,DNAJA5,GS3,JJJ1
FUSION GENES

Other Information

Locus ID:

NCBI: 134218
MIM: 617048
HGNC: 27030
Ensembl: ENSG00000168724

Variants:

dbSNP: 134218
ClinVar: 134218
TCGA: ENSG00000168724
COSMIC: DNAJC21

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168724ENST00000382021Q5F1R6
ENSG00000168724ENST00000642285A0A2R8Y4Q0
ENSG00000168724ENST00000642675A0A2R8Y534
ENSG00000168724ENST00000642851Q5F1R6
ENSG00000168724ENST00000644357A0A2R8Y4N5
ENSG00000168724ENST00000646714A0A2R8YET8
ENSG00000168724ENST00000648817Q5F1R6

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
280623952017Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.27
273466872016DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.18
297008102018Refining the phenotype associated with biallelic DNAJC21 mutations.4
301985702019Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.2
150673792004Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain.1

Citation

Dessen P

DNAJC21 (DnaJ heat shock protein family (Hsp40) member C21)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/57023/dnajc21