DNAJB13 (DnaJ heat shock protein family (Hsp40) member B13)

2014-11-01  

Identity

HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
CILD34,RSPH16A,TSARG5,TSARG6
FUSION GENES

Other Information

Locus ID:

NCBI: 374407
MIM: 610263
HGNC: 30718
Ensembl: ENSG00000187726

Variants:

dbSNP: 374407
ClinVar: 374407
TCGA: ENSG00000187726
COSMIC: DNAJB13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187726ENST00000339764P59910
ENSG00000187726ENST00000537753P59910
ENSG00000187726ENST00000542350H0YFX2
ENSG00000187726ENST00000543947P59910

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
351669912022A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia.1
351669912022A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia.1
313426712020Missense mutation in DNAJB13 gene correlated with male fertility in asthenozoospermia.8
313426712020Missense mutation in DNAJB13 gene correlated with male fertility in asthenozoospermia.8
274867832016Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.37
274867832016Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.37
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.19
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.19
149709032004Molecular cloning of TSARG6 gene related to apoptosis in human spermatogenic cells.5
149709032004Molecular cloning of TSARG6 gene related to apoptosis in human spermatogenic cells.5

Citation

Dessen P

DNAJB13 (DnaJ heat shock protein family (Hsp40) member B13)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62559/dnajb13-(dnaj-heat-shock-protein-family-(hsp40)-member-b13)