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

2017-08-01  

Identity

HGNC
DNAJC21
LOCATION
5p13.2
LOCUSID
134218
ALIAS
BMFS3,DNAJA5,GS3,JJJ1
FUSION GENES
Show Gene Fusions

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
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
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
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.9
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.9
297008102018Refining the phenotype associated with biallelic DNAJC21 mutations.16
297008102018Refining the phenotype associated with biallelic DNAJC21 mutations.16
280623952017Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.51
280623952017Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.51
273466872016DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.46
273466872016DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.46
150673792004Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain.1
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/haematological-explorer/img/humanGenome