PRDM12
entrez
59335
canonical
uniprot
Q9H4Q4
canonical
ensembl
ENSG00000130711
resolver
ensp
ENSP00000253008
resolver
enst
ENST00000253008
resolver
genesymbol
PRDM12
resolver
genesymbol_syn
PFM9
resolver
hgnc
HGNC:13997
resolver
uniprot
A3KFK9
resolver
uniprot_entry
PRD12_HUMAN
resolver
uniprot_sec
A3KFK9
resolver
amino_acid_sequence
MMGSVLPAEALVLKTGLKAPGLALAEVITSDILHSFLYGRWRNVLGEQLFEDKSHHASPKTAFTAEVLAQSFSGEVQKLSSLVLPAEVIIAQSSIPGEGLGIFSKTWIKAGTEMGPFTGRVIAPEHVDICKNNNLMWEVFNEDGTVRYFIDASQEDHRSWMTYIKCARNEQEQNLEVVQIGTSIFYKAIEMIPPDQELLVWYGNSHNTFLGIPGVPGLEEDQKKNKHEDFHPADSAAGPAGRMRCVICHRGFNSRSNLRSHMRIHTLDKPFVCRFCNRRFSQSSTLRNHVRLHTGERPYKCQVCQSAYSQLAGLRAHQKSARHRPPSTALQAHSPALPAPHAHAPALAAAAAAAAAAAAHHLPAMVL
uniprot
proteins
disease_involvement
DISEASE: Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN8 patients manifest congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Some patients may also have decreased sweating and tear production. {ECO:0000269|PubMed:26005867}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional regulator necessary for the development of nociceptive neurons, playing a key role in determining the nociceptive lineage from neural crest cell progenitors. Initiates neurogenesis and activates downstream pro-neuronal transcription factors, such as NEUROD1, BRN3A, and ISL1, specifically within nociceptive neurons, while repressing non-nociceptor cell fates. Essential for the proper function of nociceptors in adults, influencing both their excitability and their gene expression, thereby impacting how these neurons respond to various pain stimuli. {ECO:0000250|UniProtKB:A2AJ77}.
uniprot
proteins
mass_dalton
40403
uniprot
proteins
protein_family
Class V-like SAM-binding methyltransferase superfamily
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
26005867
uniprot
proteins
sequence_length
367
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26005867}.
uniprot
proteins