Entity Details

Primary name PRD12_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H4Q4
EntryNamePRD12_HUMAN
FullNamePR domain zinc finger protein 12
TaxID9606
Evidenceevidence at protein level
Length367
SequenceStatuscomplete
DateCreated2002-11-08
DateModified2021-06-02

Ontological Relatives

GenesPRDM12

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0003677 DNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0008168 methyltransferase activity
GO:0010468 regulation of gene expression
GO:0019233 sensory perception of pain
GO:0022008 neurogenesis
GO:0031175 neuron projection development
GO:0032259 methylation
GO:0046872 metal ion binding
GO:0050965 detection of temperature stimulus involved in sensory perception of pain
GO:0051574 positive regulation of histone H3-K9 methylation
GO:1900111 positive regulation of histone H3-K9 dimethylation
GO:1990226 histone methyltransferase binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001214 SET domainDomainDomain
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR017126 PR-domain zinc finger protein PRDM12FamilyFamily
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily
IPR044406 PRDM12, PR/SET domainDomainDomain

Diseases

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Disease IDSourceNameDescription
616488 OMIMNeuropathy, hereditary sensory and autonomic, 8 (HSAN8)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

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