Aliases for PRAMEF12 Gene

Aliases for PRAMEF12 Gene

  • PRAME Family Member 12 2 3 4 5
  • OTTHUMG00000001927 2
  • PRAMEF12 5

External Ids for PRAMEF12 Gene

Previous GeneCards Identifiers for PRAMEF12 Gene

  • GC01P012751
  • GC01P012834
  • GC01P011988

Summaries for PRAMEF12 Gene

GeneCards Summary for PRAMEF12 Gene

PRAMEF12 (PRAME Family Member 12) is a Protein Coding gene. Diseases associated with PRAMEF12 include Spastic Paraplegia 14, Autosomal Recessive and Bardet-Biedl Syndrome 4. Gene Ontology (GO) annotations related to this gene include retinoic acid receptor binding. An important paralog of this gene is PRAMEF7.

Additional gene information for PRAMEF12 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRAMEF12 Gene

Genomics for PRAMEF12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PRAMEF12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J012781 Enhancer 0.4 Ensembl 0.4 +8.4 8362 0.6 CTCF RAD21 SMC3 PRAMEF1 PRAMEF12
GH01J012783 Enhancer 0.3 Ensembl 0.4 +9.7 9663 0.4 CTCF PRAMEF1 PRAMEF12
GH01J012791 Promoter 0.3 EPDnew 0.4 +17.6 17640 0.1 PRAMEF1 PRAMEF12
GH01J012757 Enhancer 0.3 Ensembl 0.4 -17.0 -17037 0.2 ZIC2 AADACL3 C1orf158 PRAMEF12
GH01J012756 Enhancer 0.2 Ensembl 0.4 -17.6 -17637 0.2 C1orf158 PRAMEF12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRAMEF12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRAMEF12

Top Transcription factor binding sites by QIAGEN in the PRAMEF12 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • HOXA9
  • HOXA9B
  • Ik-2
  • Meis-1
  • POU2F1
  • POU2F1a
  • PPAR-alpha

Genomic Locations for PRAMEF12 Gene

Genomic Locations for PRAMEF12 Gene
chr1:12,773,738-12,777,906
(GRCh38/hg38)
Size:
4,169 bases
Orientation:
Plus strand
chr1:12,834,984-12,838,049
(GRCh37/hg19)
Size:
3,066 bases
Orientation:
Plus strand

Genomic View for PRAMEF12 Gene

Genes around PRAMEF12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRAMEF12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRAMEF12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRAMEF12 Gene

Proteins for PRAMEF12 Gene

  • Protein details for PRAMEF12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95522-PRA12_HUMAN
    Recommended name:
    PRAME family member 12
    Protein Accession:
    O95522

    Protein attributes for PRAMEF12 Gene

    Size:
    483 amino acids
    Molecular mass:
    54633 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRAMEF12 Gene

Post-translational modifications for PRAMEF12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRAMEF12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRAMEF12 Gene

Domains & Families for PRAMEF12 Gene

Gene Families for PRAMEF12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PRAMEF12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRAMEF12 Gene

GenScript: Design optimal peptide antigens:
  • PRAME family member 12 (PRA12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95522

UniProtKB/Swiss-Prot:

PRA12_HUMAN :
  • Belongs to the PRAME family.
Family:
  • Belongs to the PRAME family.
genes like me logo Genes that share domains with PRAMEF12: view

Function for PRAMEF12 Gene

Phenotypes for PRAMEF12 Gene

genes like me logo Genes that share phenotypes with PRAMEF12: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRAMEF12

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PRAMEF12 Gene

Localization for PRAMEF12 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRAMEF12 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
peroxisome 1
cytosol 1
plasma membrane 0
extracellular 0
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PRAMEF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with PRAMEF12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PRAMEF12 Gene

Pathways & Interactions for PRAMEF12 Gene

PathCards logo

SuperPathways for PRAMEF12 Gene

No Data Available

Interacting Proteins for PRAMEF12 Gene

STRING Interaction Network Preview (showing top 4 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000350358 for PRAMEF12 Gene via STRING

Gene Ontology (GO) - Biological Process for PRAMEF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008284 positive regulation of cell proliferation IEA --
GO:0043066 negative regulation of apoptotic process IEA --
GO:0045596 negative regulation of cell differentiation IEA --
GO:0045892 negative regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with PRAMEF12: view

No data available for Pathways by source and SIGNOR curated interactions for PRAMEF12 Gene

Drugs & Compounds for PRAMEF12 Gene

No Compound Related Data Available

Transcripts for PRAMEF12 Gene

mRNA/cDNA for PRAMEF12 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRAMEF12

Alternative Splicing Database (ASD) splice patterns (SP) for PRAMEF12 Gene

No ASD Table

Relevant External Links for PRAMEF12 Gene

GeneLoc Exon Structure for
PRAMEF12

Expression for PRAMEF12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRAMEF12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRAMEF12 Gene

This gene is overexpressed in Testis (x18.4) and Cervix - Endocervix (x5.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRAMEF12

SOURCE GeneReport for Unigene cluster for PRAMEF12 Gene:

Hs.156406
genes like me logo Genes that share expression patterns with PRAMEF12: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRAMEF12 Gene

Orthologs for PRAMEF12 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for PRAMEF12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PRAMEF12 30 31
  • 99.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pramef12 30
  • 67.25 (n)
Gm12790 31
  • 35 (a)
OneToMany
Pramel13 17
Rat
(Rattus norvegicus)
Mammalia Pramef12 30
  • 67.18 (n)
Species where no ortholog for PRAMEF12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for PRAMEF12 Gene

ENSEMBL:
Gene Tree for PRAMEF12 (if available)
TreeFam:
Gene Tree for PRAMEF12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRAMEF12: view image

Paralogs for PRAMEF12 Gene

Variants for PRAMEF12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRAMEF12 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs17346571 - p.Thr53Lys
rs1812242 - p.Thr157Met

Additional dbSNP identifiers (rs#s) for PRAMEF12 Gene

Structural Variations from Database of Genomic Variants (DGV) for PRAMEF12 Gene

Variant ID Type Subtype PubMed ID
dgv114n54 CNV gain 21841781
dgv115n54 CNV loss 21841781
dgv116n54 CNV loss 21841781
dgv117n54 CNV gain+loss 21841781
dgv19n100 CNV loss 25217958
dgv20n100 CNV loss 25217958
dgv21n100 CNV loss 25217958
dgv23n100 CNV loss 25217958
dgv5n27 CNV gain 19166990
dgv6n111 CNV duplication 26073780
dgv6n27 CNV loss 19166990
nsv1000876 CNV gain 25217958
nsv1011540 CNV loss 25217958
nsv466394 CNV gain 19166990
nsv470695 CNV loss 18288195
nsv528703 CNV loss 19592680
nsv545445 CNV gain 21841781
nsv832869 CNV gain+loss 17160897
nsv945774 CNV duplication 23825009
nsv999658 CNV gain 25217958

Variation tolerance for PRAMEF12 Gene

Residual Variation Intolerance Score: 90% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.42; 63.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRAMEF12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRAMEF12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRAMEF12 Gene

Disorders for PRAMEF12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PRAMEF12 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PRAMEF12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRAMEF12 Gene

Publications for PRAMEF12 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for PRAMEF12 Gene

Sources for PRAMEF12 Gene