DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30)

2014-11-01  

Identity

HGNC
DNAJC30
LOCATION
7q11.23
LOCUSID
84277
ALIAS
WBSCR18

Other Information

Locus ID:

NCBI: 84277
MIM: 618202
HGNC: 16410
Ensembl: ENSG00000176410

Variants:

dbSNP: 84277
ClinVar: 84277
TCGA: ENSG00000176410
COSMIC: DNAJC30

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176410ENST00000395176Q96LL9

Expression (GTEx)

0
5
10
15
20
25
30
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
N/A

References

Pubmed IDYearTitleCitations
369399342023Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.4
375798152023Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.1
381393242023DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.1
369399342023Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.4
375798152023Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.1
381393242023DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.1
350914332022DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.9
350914332022DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.9
334650562021Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.61
334650562021Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.61
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62569/gene-fusions-explorer/hgnc