PRDM9 (PR/SET domain 9)

2013-11-01  

Identity

HGNC
PRDM9
LOCATION
5p14.2
LOCUSID
56979
ALIAS
KMT8B,MEISETZ,MSBP3,PFM6,ZNF899

Other Information

Locus ID:

NCBI: 56979
MIM: 609760
HGNC: 13994
Ensembl: ENSG00000164256

Variants:

dbSNP: 56979
ClinVar: 56979
TCGA: ENSG00000164256
COSMIC: PRDM9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164256ENST00000296682Q9NQV7
ENSG00000164256ENST00000502755D6RD68
ENSG00000164256ENST00000635252A0A0U1RQY2

Expression (GTEx)

0
1
2
3
4
5
6
7
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

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
Cell CycleREACTOMER-HSA-1640170
MeiosisREACTOMER-HSA-1500620
Meiotic recombinationREACTOMER-HSA-912446
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
200445392010PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice.390
200445412010Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination.278
200445382010Prdm9 controls activation of mammalian recombination hotspots.247
208183822010PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans.153
217501512011Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations.71
268404842016Re-engineering the zinc fingers of PRDM9 reverses hybrid sterility in mice.63
200411642009Extraordinary molecular evolution in the PRDM9 fertility gene.47
182315862008Genome-wide survey and developmental expression mapping of zebrafish SET domain-containing genes.42
246342232014Trimethylation of histone H3 lysine 36 by human methyltransferase PRDM9 protein.41
221629472011The case of the fickle fingers: how the PRDM9 zinc finger protein specifies meiotic recombination hotspots in humans.40

Citation

Dessen P

PRDM9 (PR/SET domain 9)

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/gene/53542/prdm9