PRDM12 (PR/SET domain 12)

2014-11-01  

Identity

HGNC
LOCATION
9q34.12
LOCUSID
ALIAS
HSAN8,PFM9
FUSION GENES

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130711ENST00000253008Q9H4Q4

Expression (GTEx)

0
1

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
361118462022Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.5
361118462022Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.5
347694592021PRDM12 in Health and Diseases.8
347694592021PRDM12 in Health and Diseases.8
299492032018Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12.7
299492032018Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12.7
269753062016Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.17
269753062016Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.17
258919342015The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception.24
260058672015Transcriptional regulator PRDM12 is essential for human pain perception.70
258919342015The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception.24
260058672015Transcriptional regulator PRDM12 is essential for human pain perception.70
145234592004A potential role for PRDM12 in the pathogenesis of chronic myeloid leukaemia with derivative chromosome 9 deletion.11
145234592004A potential role for PRDM12 in the pathogenesis of chronic myeloid leukaemia with derivative chromosome 9 deletion.11

Citation

Dessen P

PRDM12 (PR/SET domain 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72193/prdm12-(pr-set-domain-12)