Aliases for PRAF2 Gene
Aliases for PRAF2 Gene
External Ids for PRAF2 Gene
- HGNC: 28911
- Entrez Gene: 11230
- Ensembl: ENSG00000243279
- OMIM: 300840
- UniProtKB: O60831
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.
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
GeneHancer (GH) Regulatory Elements for PRAF2 Gene
Promoters and enhancers for PRAF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PRAF2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- Xp11.23 by Ensembl
- Xp11.23 by Entrez Gene
- Xp11.23 by HGNC
PRAF2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)


RefSeq DNA sequence for PRAF2 Gene
Proteins for PRAF2 Gene
-
Protein details for PRAF2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O60831-PRAF2_HUMAN
- Recommended name:
- PRA1 family protein 2
- Protein Accession:
- O60831
- B2RD20
Protein attributes for PRAF2 Gene
- Size:
- 178 amino acids
- Molecular mass:
- 19258 Da
- Quaternary structure:
-
- Interacts with CCR5 and GDE1.
Protein Expression for PRAF2 Gene
Post-translational modifications for PRAF2 Gene
No Post-translational modifications
Other Protein References for PRAF2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
Abcam antibodies for PRAF2
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Protein Products
-
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-
Abcam proteins for PRAF2
Assay Products
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- Family:
-
- Belongs to the PRA1 family.
Function for PRAF2 Gene
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:
Animal Models for PRAF2 Gene
- MGI Knock Outs for PRAF2:
-
- Praf2 tm1e(EUCOMM)Wtsi
Animal Model Products
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-
-
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-
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-
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-
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miRNA for PRAF2 Gene
- miRTarBase miRNAs that target PRAF2
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Inhibitory RNA Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
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Cell Line Products
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-
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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.
- Endoplasmic reticulum (2)
- Vesicles (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0010008 | endosome membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for PRAF2 Gene
No Data Available
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006810 | transport | IEA | -- |
GO:0015031 | protein transport | IEA | -- |
GO:0015813 | L-glutamate transport | ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for PRAF2 Gene
Transcripts for PRAF2 Gene
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
CRISPR Products
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRAF2
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miRNA Products
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Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for PRAF2 gene
Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for PRAF2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PRAF2 Gene:
PRAF2SOURCE GeneReport for Unigene cluster for PRAF2 Gene:
Hs.29595mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for PRAF2
-
OriGene qPCR primer pairs and template standards for PRAF2
- genomics-online: primer clones - Search results for 95 available PRAF2 gene related products
- Overview of 95 available PRAF2 gene related products
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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | PRAF2 33 |
|
||
cow (Bos Taurus) |
Mammalia | PRAF2 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | PRAF2 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Praf2 33 |
|
||
mouse (Mus musculus) |
Mammalia | Praf2 33 16 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | PRAF2 34 |
|
OneToOne | |
zebrafish (Danio rerio) |
Actinopterygii | praf2 33 34 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Jwa 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | praf-3 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9659 34 |
|
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)
Paralogs for PRAF2 Gene
(2) SIMAP similar genes for PRAF2 Gene using alignment to 2 proteins:
Variants 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 |
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
Disorder | Aliases | PubMed IDs |
---|---|---|
neuroblastoma |
|
|
Search PRAF2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PRAF2
No data available for UniProtKB/Swiss-Prot and Genatlas for PRAF2 Gene
Publications for PRAF2 Gene
- 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
- 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
- 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
- JM4 is a four-transmembrane protein binding to the CCR5 receptor. (PMID: 15757671) Schweneker M … Moelling K (FEBS letters 2005) 3 4 58
- 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
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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Sources for PRAF2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
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- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
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- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
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- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
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- (125) NCBI Bookshelf
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- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew