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Aliases for PRDM12 Gene

Aliases for PRDM12 Gene

  • PR Domain 12 2 3
  • PR Domain Containing 12 2 3 5
  • PR-Domain Zinc Finger Protein 12 2 3
  • PR-Domain Containing Protein 12 2 3
  • PR Domain-Containing Protein 12 3 4
  • PFM9 3 4
  • EC 2.1.1.- 4
  • HSAN8 3

External Ids for PRDM12 Gene

Previous GeneCards Identifiers for PRDM12 Gene

  • GC09P124554
  • GC09P125086
  • GC09P126893
  • GC09P128816
  • GC09P130569
  • GC09P132529
  • GC09P133539
  • GC09P103027

Summaries for PRDM12 Gene

GeneCards Summary for PRDM12 Gene

PRDM12 (PR Domain 12) is a Protein Coding gene. Diseases associated with PRDM12 include neuropathy, hereditary sensory and autonomic, type viii. GO annotations related to this gene include methyltransferase activity. An important paralog of this gene is PRDM6.

UniProtKB/Swiss-Prot for PRDM12 Gene

  • Involved in the positive regulation of histone H3-K9 dimethylation.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRDM12 Gene

Genomics for PRDM12 Gene

Regulatory Elements for PRDM12 Gene

Genomic Location for PRDM12 Gene

Chromosome:
9
Start:
130,664,594 bp from pter
End:
130,682,997 bp from pter
Size:
18,404 bases
Orientation:
Plus strand

Genomic View for PRDM12 Gene

Genes around PRDM12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRDM12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRDM12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRDM12 Gene

Proteins for PRDM12 Gene

  • Protein details for PRDM12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4Q4-PRD12_HUMAN
    Recommended name:
    PR domain zinc finger protein 12
    Protein Accession:
    Q9H4Q4
    Secondary Accessions:
    • A3KFK9

    Protein attributes for PRDM12 Gene

    Size:
    367 amino acids
    Molecular mass:
    40403 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PRDM12 Gene

neXtProt entry for PRDM12 Gene

Proteomics data for PRDM12 Gene at MOPED

Post-translational modifications for PRDM12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRDM12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PRDM12 Gene

Domains & Families for PRDM12 Gene

Gene Families for PRDM12 Gene

Protein Domains for PRDM12 Gene

Suggested Antigen Peptide Sequences for PRDM12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H4Q4

UniProtKB/Swiss-Prot:

PRD12_HUMAN :
  • Contains 1 SET domain.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.
  • Contains 3 C2H2-type zinc fingers.
Domain:
  • Contains 1 SET domain.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.
Similarity:
  • Contains 3 C2H2-type zinc fingers.
genes like me logo Genes that share domains with PRDM12: view

Function for PRDM12 Gene

Molecular function for PRDM12 Gene

UniProtKB/Swiss-Prot Function:
Involved in the positive regulation of histone H3-K9 dimethylation.

Enzyme Numbers (IUBMB) for PRDM12 Gene

Gene Ontology (GO) - Molecular Function for PRDM12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with PRDM12: view
genes like me logo Genes that share phenotypes with PRDM12: view

Animal Models for PRDM12 Gene

MGI Knock Outs for PRDM12:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PRDM12 Gene

Localization for PRDM12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRDM12 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRDM12 Gene COMPARTMENTS Subcellular localization image for PRDM12 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for PRDM12 Gene

Pathways & Interactions for PRDM12 Gene

SuperPathways for PRDM12 Gene

No Data Available

Interacting Proteins for PRDM12 Gene

Gene Ontology (GO) - Biological Process for PRDM12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022008 neurogenesis IEA --
GO:0032259 methylation IEA --
GO:1900111 positive regulation of histone H3-K9 dimethylation IMP 26005867
genes like me logo Genes that share ontologies with PRDM12: view

No data available for Pathways by source and SIGNOR curated interactions for PRDM12 Gene

Drugs & Compounds for PRDM12 Gene

No Compound Related Data Available

Transcripts for PRDM12 Gene

mRNA/cDNA for PRDM12 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRDM12 Gene

PR domain containing 12:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRDM12 Gene

No ASD Table

Relevant External Links for PRDM12 Gene

GeneLoc Exon Structure for
PRDM12
ECgene alternative splicing isoforms for
PRDM12

Expression for PRDM12 Gene

mRNA expression in normal human tissues for PRDM12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRDM12 Gene

This gene is overexpressed in Brain - Hypothalamus (x7.1), Brain - Cortex (x4.6), Brain - Anterior cingulate cortex (BA24) (x4.4), and Brain - Frontal Cortex (BA9) (x4.2).

Protein differential expression in normal tissues from HIPED for PRDM12 Gene

This gene is overexpressed in Lymph node (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRDM12 Gene



SOURCE GeneReport for Unigene cluster for PRDM12 Gene Hs.495311

mRNA Expression by UniProt/SwissProt for PRDM12 Gene

Q9H4Q4-PRD12_HUMAN
Tissue specificity: Not found in adult tissues except in dorsal root ganglia.
genes like me logo Genes that share expression patterns with PRDM12: view

Protein tissue co-expression partners for PRDM12 Gene

Primer Products

In Situ Assay Products

Orthologs for PRDM12 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRDM12 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRDM12 35
  • 94.01 (n)
  • 98.8 (a)
PRDM12 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC608616 35
  • 94.39 (n)
  • 97.94 (a)
PRDM12 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prdm12 35
  • 91.42 (n)
  • 98.5 (a)
Prdm12 16
Prdm12 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRDM12 35
  • 99.8 (n)
  • 100 (a)
PRDM12 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prdm12 35
  • 90.62 (n)
  • 98.5 (a)
oppossum
(Monodelphis domestica)
Mammalia PRDM12 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRDM12 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRDM12 35
  • 88.32 (n)
  • 93.66 (a)
PRDM12 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prdm12 35
  • 80.64 (n)
  • 90.12 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68944 35
zebrafish
(Danio rerio)
Actinopterygii prdm12b 35
  • 79.38 (n)
  • 88.29 (a)
prdm12b 36
  • 83 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea set-17 36
  • 14 (a)
OneToMany
Species with no ortholog for PRDM12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRDM12 Gene

ENSEMBL:
Gene Tree for PRDM12 (if available)
TreeFam:
Gene Tree for PRDM12 (if available)

Paralogs for PRDM12 Gene

Paralogs for PRDM12 Gene

genes like me logo Genes that share paralogs with PRDM12: view

Variants for PRDM12 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PRDM12 Gene

Q9H4Q4-PRD12_HUMAN
The poly-alanine tract is polymorphic in the general population and contains a maximum of 14 alanines.

Sequence variations from dbSNP and Humsavar for PRDM12 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_074617 Neuropathy, hereditary sensory and autonomic, 8 (HSAN8)
VAR_074618 Neuropathy, hereditary sensory and autonomic, 8 (HSAN8)
VAR_074619 Neuropathy, hereditary sensory and autonomic, 8 (HSAN8)
VAR_074620 Neuropathy, hereditary sensory and autonomic, 8 (HSAN8)
VAR_074621 Neuropathy, hereditary sensory and autonomic, 8 (HSAN8)

Structural Variations from Database of Genomic Variants (DGV) for PRDM12 Gene

Variant ID Type Subtype PubMed ID
nsv831735 CNV Loss 17160897
nsv825122 CNV Gain 20364138
nsv825123 CNV Gain 20364138
nsv825124 CNV Gain 20364138

Variation tolerance for PRDM12 Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRDM12 Gene

HapMap Linkage Disequilibrium report
PRDM12
Human Gene Mutation Database (HGMD)
PRDM12

Disorders for PRDM12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PRDM12 Gene - From: OMIM and Swiss-Prot

Disorder Aliases PubMed IDs
neuropathy, hereditary sensory and autonomic, type viii
  • neuropathy, hereditary sensory and autonomic, 8
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PRD12_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for PRDM12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRDM12
genes like me logo Genes that share disorders with PRDM12: view

No data available for Genatlas for PRDM12 Gene

Publications for PRDM12 Gene

  1. Transcriptional regulator PRDM12 is essential for human pain perception. (PMID: 26005867) Chen Y.C. … Senderek J. (Nat. Genet. 2015) 3 4 67
  2. A potential role for PRDM12 in the pathogenesis of chronic myeloid leukaemia with derivative chromosome 9 deletion. (PMID: 14523459) Reid A.G. … Nacheva E.P. (Leukemia 2004) 2 3
  3. Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. (PMID: 24315451) van der Valk R.J. … de Jongste J.C. (J. Allergy Clin. Immunol. 2014) 3
  4. SET domains and histone methylation. (PMID: 14675547) Xiao B. … Gamblin S.J. (Curr. Opin. Struct. Biol. 2003) 3
  5. The prototypical 4.1R-10-kDa domain and the 4.1g-10-kDa paralog mediate fodrin-actin complex formation. (PMID: 11274145) Kontrogianni-Konstantopoulos A. … Huang S.C. (J. Biol. Chem. 2001) 3

Products for PRDM12 Gene

Sources for PRDM12 Gene

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