PRDM12

Protein identityUniProt · HPA

UniProt accession

Q9H4Q4

Gene

PRDM12

Ensembl

ENSG00000130711

Chromosome

9

Canonical length

367 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

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 finger DNA-binding domains. Naturally occurring mutations in this gene are associated with congenital insensitivity to pain (CIP), and hereditary sensory and autonomic neuropathies (HSAN's) affecting peripheral sensory and autonomic neurons. Deregulation of this gene is associated with solid cancers and hematological malignancies including chronic myeloid leukaemia. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

367 residues, UniProt reviewed canonical sequence.

>Q9H4Q4|PRDM12
     1  MMGSVLPAEA LVLKTGLKAP GLALAEVITS DILHSFLYGR WRNVLGEQLF EDKSHHASPK
    61  TAFTAEVLAQ SFSGEVQKLS SLVLPAEVII AQSSIPGEGL GIFSKTWIKA GTEMGPFTGR
   121  VIAPEHVDIC KNNNLMWEVF NEDGTVRYFI DASQEDHRSW MTYIKCARNE QEQNLEVVQI
   181  GTSIFYKAIE MIPPDQELLV WYGNSHNTFL GIPGVPGLEE DQKKNKHEDF HPADSAAGPA
   241  GRMRCVICHR GFNSRSNLRS HMRIHTLDKP FVCRFCNRRF SQSSTLRNHV RLHTGERPYK
   301  CQVCQSAYSQ LAGLRAHQKS ARHRPPSTAL QAHSPALPAP HAHAPALAAA AAAAAAAAAH
   361  HLPAMVL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRDM12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

1 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRDM12.

Disease | AllUniProt

Conditions PRDM12 is implicated in, by any mechanism.

• Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) MIM:616488

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 348 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital insensitivity to pain-hypohidrosis syndrome
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.37

gnomAD pLI

0.93

gnomAD missense Z

1.67

DepMap mean gene effect

-0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• detection of temperature stimulus involved in sensory perception of pain
• negative regulation of transcription by RNA polymerase II
• neurogenesis
• neuron fate specification
• neuron projection development
• protein methylation
• regulation of gene expression
• sensory perception of pain

Molecular functions

• DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• histone chaperone activity
• histone methyltransferase binding
• zinc ion binding

Cellular components

• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• SET domain
• Zinc finger C2H2-type
• Zinc finger C2H2 superfamily
• SET domain superfamily
• Zinc finger PRDM4/PRDM1/PRDM14-like
• Zinc finger, C2H2 type
• PR domain zinc finger protein 2, PR domain
• PR-domain zinc finger protein PRDM12
• PRDM12, PR/SET domain

KeywordsUniProt

• Activator
• DNA-binding
• Metal-binding
• Neurodegeneration
• Neuropathy
• Nucleus
• Repeat
• Repressor
• Transcription
• Transcription regulation
• Triplet repeat expansion
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of PRDM12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• EHMT2