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PRAF2 Gene(Protein Coding)

PRA1 Domain Family Member 2

GCID:
GC0XM049072
GIFtS:
41
Genes Participants
UDN Logo

Aliases for PRAF2 Gene

Aliases for PRAF2 Gene

  • PRA1 Domain Family Member 2 2 3 5
  • PRA1 Domain Family, Member 2 2
  • PRA1 Family Protein 2 3
  • PRA1 Domain Family 2 2
  • Jena-Muenchen 4 3
  • Yip6a 3
  • JM4 3

External Ids for PRAF2 Gene

Previous GeneCards Identifiers for PRAF2 Gene

  • GC0XM048685
  • GC0XM048815
  • GC0XM048928
  • GC0XM046585

Summaries for PRAF2 Gene

GeneCards Summary for PRAF2 Gene

PRAF2 (PRA1 Domain Family Member 2) is a Protein Coding gene. Diseases associated with PRAF2 include Neuroblastoma. An important paralog of this gene is ARL6IP5.

UniProtKB/Swiss-Prot for PRAF2 Gene

  • May be involved in ER/Golgi transport and vesicular traffic. Plays a proapoptic role in cerulenin-induced neuroblastoma apoptosis.

Additional gene information for PRAF2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRAF2 Gene

Genomics for PRAF2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for PRAF2 Gene

Promoters and enhancers for PRAF2 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
GH0XI049071 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.7 719 3.7 PKNOX1 SIN3A YY1 ETS1 GLIS2 ZNF143 KLF7 RUNX3 SP3 YY2 PRAF2 CCDC120 GPKOW TFE3 GC0XP049093 WDR45
GH0XI049037 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.8 +32.9 32940 7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF143 TFE3 PRAF2 OTUD5 RNU6-722P SLC38A5 PLP2 GC0XM049007
GH0XI049099 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.4 -27.2 -27228 3.1 PKNOX1 ATF1 SIN3A ZNF48 YY1 ZNF121 POLR2B GLIS2 ELK1 FOS WDR45 PRAF2 ENSG00000228343 GPKOW
GH0XI048834 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10.1 +238.9 238890 2.3 ZNF133 ARID4B GLI4 ZNF2 KLF7 SP3 SP5 YY2 MIER2 REST PCSK1N ZNF81 ENSG00000204620 FTSJ1 ENSG00000270012 ZNF182 CCDC120 PRAF2 PQBP1 SYP
GH0XI048736 Promoter/Enhancer 1.5 Ensembl ENCODE 10.2 +336.7 336717 2.4 HDGF PKNOX1 ARID4B DMAP1 ZNF2 YY1 POLR2B ZNF213 E2F8 FOS ENSG00000232828 PRAF2 ENSG00000204620 PQBP1 PIR45163
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PRAF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRAF2 gene promoter:

Genomic Locations for PRAF2 Gene

Genomic Locations for PRAF2 Gene
chrX:49,071,156-49,074,071
(GRCh38/hg38)
Size:
2,916 bases
Orientation:
Minus strand
chrX:48,928,813-48,931,730
(GRCh37/hg19)

Genomic View for PRAF2 Gene

Genes around PRAF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRAF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRAF2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PRAF2 Gene

Proteins for PRAF2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PRAF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60831-PRAF2_HUMAN
    Recommended name:
    PRA1 family protein 2
    Protein Accession:
    O60831
    Secondary Accessions:
    • B2RD20

    Protein attributes for PRAF2 Gene

    Size:
    178 amino acids
    Molecular mass:
    19258 Da
    Quaternary structure:
    • Interacts with CCR5 and GDE1.

neXtProt entry for PRAF2 Gene

Protein Expression for PRAF2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PRAF2 Gene

No Post-translational modifications

Other Protein References for PRAF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRAF2 Gene

Domains & Families for PRAF2 Gene

Gene Families for PRAF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for PRAF2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRAF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60831

UniProtKB/Swiss-Prot:

PRAF2_HUMAN :
  • Belongs to the PRA1 family.
Family:
  • Belongs to the PRA1 family.
genes like me logo Genes that share domains with PRAF2: view

Function for PRAF2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PRAF2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in ER/Golgi transport and vesicular traffic. Plays a proapoptic role in cerulenin-induced neuroblastoma apoptosis.

Phenotypes for PRAF2 Gene

MGI mutant phenotypes for PRAF2:
inferred from 1 alleles
GenomeRNAi human phenotypes for PRAF2:
genes like me logo Genes that share phenotypes with PRAF2: view

Animal Models for PRAF2 Gene

MGI Knock Outs for PRAF2:

Animal Model Products

miRNA for PRAF2 Gene

miRTarBase miRNAs that target PRAF2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PRAF2 Gene

Localization for PRAF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRAF2 Gene

Endosome membrane; Multi-pass membrane protein.

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 PRAF2 gene
Compartment Confidence
endosome 3
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010008 endosome membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PRAF2: view

Pathways & Interactions for PRAF2 Gene

SuperPathways for PRAF2 Gene

PathCards logo More details on SuperPathways for PRAF2
No Data Available

Gene Ontology (GO) - Biological Process for PRAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0015813 L-glutamate transport ISS --
genes like me logo Genes that share ontologies with PRAF2: view

No data available for Pathways by source and SIGNOR curated interactions for PRAF2 Gene

Drugs & Compounds for PRAF2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for PRAF2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PRAF2 Gene

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

Unigene Clusters for PRAF2 Gene

PRA1 domain family, member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRAF2 Gene

No ASD Table

Relevant External Links for PRAF2 Gene

GeneLoc Exon Structure for
PRAF2
ECgene alternative splicing isoforms for
PRAF2

Expression for PRAF2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRAF2 Gene

mRNA expression in normal human tissues for PRAF2 Gene
mRNA expression by BioGPS for PRAF2 GenemRNA expression by GTEx for PRAF2 Gene

Protein differential expression in normal tissues from HIPED for PRAF2 Gene

This gene is overexpressed in Nasal epithelium (8.5) and Fetal testis (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRAF2 Gene



Protein tissue co-expression partners for PRAF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRAF2 Gene:

PRAF2

SOURCE GeneReport for Unigene cluster for PRAF2 Gene:

Hs.29595

mRNA Expression by UniProt/SwissProt for PRAF2 Gene:

O60831-PRAF2_HUMAN
Tissue specificity: Strong expression in the brain, small intestine, lung, spleen, and pancreas as well as in tumor tissues of the breast, colon, lung and ovary, with a weaker expression in normal tissues of the same patient. High expression in neuroblastic tumors. Strongly expressed in Purkinje cells and more moderately in cells of the molecular and the granular layers in the cerebellum. Detected in neuronal cells, but not in non-neuronal cells in the cerebral cortex, hippocampus, and lateral ventricles.

Evidence on tissue expression from TISSUES for PRAF2 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with PRAF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRAF2 Gene

Orthologs for PRAF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRAF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PRAF2 33
  • 99.44 (n)
cow
(Bos Taurus)
 Mammalia PRAF2 33 34
  • 90.82 (n)
dog
(Canis familiaris)
 Mammalia PRAF2 33 34
  • 89.89 (n)
rat
(Rattus norvegicus)
 Mammalia Praf2 33
  • 87.27 (n)
mouse
(Mus musculus)
 Mammalia Praf2 33 16 34
  • 86.7 (n)
lizard
(Anolis carolinensis)
 Reptilia PRAF2 34
  • 66 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii praf2 33 34
  • 58.8 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Jwa 34
  • 29 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea praf-3 34
  • 28 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.9659 34
  • 43 (a)
 OneToMany
Species where no ortholog for PRAF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 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)

Evolution for PRAF2 Gene

ENSEMBL:
Gene Tree for PRAF2 (if available)
TreeFam:
Gene Tree for PRAF2 (if available)

Paralogs for PRAF2 Gene

Paralogs for PRAF2 Gene

(2) SIMAP similar genes for PRAF2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PRAF2: view

Variants for PRAF2 Gene

Sequence variations from dbSNP and Humsavar for PRAF2 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs149509552 benign, not specified, Neurodegeneration with brain iron accumulation 5 49,075,271(-) C/G/T upstream_transcript_variant
rs199814778 likely-benign, not specified, Neurodegeneration with brain iron accumulation 5 49,075,173(-) G/A upstream_transcript_variant
rs387907328 pathogenic, Neurodegeneration with brain iron accumulation 5, not provided 49,074,881(-) ATAT/AT upstream_transcript_variant
rs387907329 pathogenic, Neurodegeneration with brain iron accumulation 5, not provided, Absent speech, Delayed gross motor development, Delayed speech and language development, Global developmental delay, Hypoplasia of the corpus callosum, Seizures 49,075,573(-) G/A/T upstream_transcript_variant
rs387907330 pathogenic, Neurodegeneration with brain iron accumulation 5 49,075,866(-) C/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PRAF2 Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV gain+loss 17666407
nsv528292 CNV gain 19592680

Variation tolerance for PRAF2 Gene

Residual Variation Intolerance Score: 76.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRAF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRAF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRAF2 Gene

Disorders for PRAF2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PRAF2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search PRAF2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PRAF2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PRAF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRAF2 Gene

Publications for PRAF2 Gene

  1. Genomic organization, expression profile, and characterization of the new protein PRA1 domain family, member 2 (PRAF2). (PMID: 16481131) Fo CS … Bachmann AS (Gene 2006) 2 3 4 22 58
  2. Expression profile of PRAF2 in the human brain and enrichment in synaptic vesicles. (PMID: 18395978) Koomoa DL … Bachmann AS (Neuroscience letters 2008) 3 4 22 58
  3. Expression of prenylated Rab acceptor 1 domain family, member 2 (PRAF2) in neuroblastoma: correlation with clinical features, cellular localization, and cerulenin-mediated apoptosis regulation. (PMID: 17975142) Geerts D … Bachmann AS (Clinical cancer research : an official journal of the American Association for Cancer Research 2007) 3 4 58
  4. JM4 is a four-transmembrane protein binding to the CCR5 receptor. (PMID: 15757671) Schweneker M … Moelling K (FEBS letters 2005) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for PRAF2 Gene

Sources for PRAF2 Gene

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