• Gene id: 59335

Gene Summary

• Gene Symbol: PRDM12   Gene   UCSC   Ensembl
• Aliases: HSAN8, PFM9
• Gene name: PR/SET domain 12
• Alternate names: PR domain zinc finger protein 12, PR domain containing 12,
• Gene location: 9q34.12 (130664593: 130682982)     Exons: 5     NC_000009.12
• Gene summary(Entrez): This gene encodes a transcriptional regulator of sensory neuronal specification that plays a critical role in pain perception. The encoded protein contains an N-terminal PRDI-BF1 and RIZ homology (PR) domain, a SET domain, and three C-terminal C2H2 zinc f
• OMIM: 609892

Protein Summary

• Protein general information: Q9H4Q4  
  • Name: PR domain zinc finger protein 12 (EC 2.1.1. ) (PR domain containing protein 12)
  • Length: 367  
  • Mass: 40403
  • Tissue specificity: Not found in adult tissues except in dorsal root ganglia. {ECO
• Sequence:

  MMGSVLPAEALVLKTGLKAPGLALAEVITSDILHSFLYGRWRNVLGEQLFEDKSHHASPKTAFTAEVLAQSFSGE
  VQKLSSLVLPAEVIIAQSSIPGEGLGIFSKTWIKAGTEMGPFTGRVIAPEHVDICKNNNLMWEVFNEDGTVRYFI
  DASQEDHRSWMTYIKCARNEQEQNLEVVQIGTSIFYKAIEMIPPDQELLVWYGNSHNTFLGIPGVPGLEEDQKKN
  KHEDFHPADSAAGPAGRMRCVICHRGFNSRSNLRSHMRIHTLDKPFVCRFCNRRFSQSSTLRNHVRLHTGERPYK
  CQVCQSAYSQLAGLRAHQKSARHRPPSTALQAHSPALPAPHAHAPALAAAAAAAAAAAAHHLPAMVL

• Structural information:
  • Protein Domains: (86..20-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR001214  IPR036236  IPR013087  IPR017126  
  • Prosite: PS50280 PS00028 PS50157
  • PDB: 3EP0
  • PDBsum: 3EP0
  • STRING: ENSP00000253008
• Other Databases: GeneCards:  PRDM12  Malacards:  PRDM12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:1900111	positive regulation of histone H3-K9 dimethylation	IBA	biological process
GO:0022008	neurogenesis	IBA	biological process
GO:1990226	histone methyltransferase binding	IBA	molecular function
GO:0010468	regulation of gene expression	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:1900111	positive regulation of histone H3-K9 dimethylation	IMP	biological process
GO:1900111	positive regulation of histone H3-K9 dimethylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:1990226	histone methyltransferase binding	IDA	molecular function
GO:0051574	positive regulation of histone H3-K9 methylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0031175	neuron projection development	IMP	biological process
GO:0050965	detection of temperature stimulus involved in sensory perception of pain	IMP	biological process
GO:0019233	sensory perception of pain	IMP	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0051574	positive regulation of histone H3-K9 methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:1900111	positive regulation of histone H3-K9 dimethylation	IBA	biological process
GO:0022008	neurogenesis	IBA	biological process
GO:1990226	histone methyltransferase binding	IBA	molecular function
GO:0010468	regulation of gene expression	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:1900111	positive regulation of histone H3-K9 dimethylation	IMP	biological process
GO:1900111	positive regulation of histone H3-K9 dimethylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:1990226	histone methyltransferase binding	IDA	molecular function
GO:0051574	positive regulation of histone H3-K9 methylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0031175	neuron projection development	IMP	biological process
GO:0050965	detection of temperature stimulus involved in sensory perception of pain	IMP	biological process
GO:0019233	sensory perception of pain	IMP	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0051574	positive regulation of histone H3-K9 methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881