PRDM12 (PR/SET domain 12)

2014-11-01 Affiliation

Identity

HGNC

PRDM12

LOCATION

9q34.12

LOCUSID

59335

ALIAS

HSAN8,PFM9

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 59335
MIM: 616458
HGNC: 13997
Ensembl: ENSG00000130711

Variants:

dbSNP: 59335
ClinVar: 59335
TCGA: ENSG00000130711
COSMIC: PRDM12

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000130711	ENST00000253008	Q9H4Q4

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
26005867	2015	Transcriptional regulator PRDM12 is essential for human pain perception.	28
25891934	2015	The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception.	10
14523459	2004	A potential role for PRDM12 in the pathogenesis of chronic myeloid leukaemia with derivative chromosome 9 deletion.	6
26975306	2016	Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.	4
29949203	2018	Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12.	0

Citation

Dessen P

PRDM12 (PR/SET domain 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72193/prdm12