PRDM13 (PR/SET domain 13)

2018-11-01  

Identity

HGNC
PRDM13
LOCATION
6q16.2
LOCUSID
59336
ALIAS
MU-MB-20.220,PFM10

Other Information

Locus ID:

NCBI: 59336
MIM: 616741
HGNC: 13998
Ensembl: ENSG00000112238

Variants:

dbSNP: 59336
ClinVar: 59336
TCGA: ENSG00000112238
COSMIC: PRDM13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112238ENST00000369214A0A0A0MRL5
ENSG00000112238ENST00000369215Q9H4Q3

Expression (GTEx)

0
1
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
277775032016North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.7
255461592015Deficiency of Prdm13, a dorsomedial hypothalamus-enriched gene, mimics age-associated changes in sleep quality and adiposity.6
297672512018Overexpression of PRDM13 inhibits glioma cells via Rho and GTP enzyme activation protein.1
307104612019Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.0

Citation

Dessen P

PRDM13 (PR/SET domain 13)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57726/prdm13