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

2014-11-01  

Identity

HGNC
DNAJB13
LOCATION
11q13.4
LOCUSID
374407
ALIAS
CILD34,RSPH16A,TSARG5,TSARG6
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16
149709032004Molecular cloning of TSARG6 gene related to apoptosis in human spermatogenic cells.0
274867832016Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.0

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