Aliases for FBXO48 Gene
External Ids for FBXO48 Gene
- HGNC: 33857
- Entrez Gene: 554251
- Ensembl: ENSG00000204923
- UniProtKB: Q5FWF7
Previous GeneCards Identifiers for FBXO48 Gene
- GC02M068544
- GC02M068689
- GC02M068426
Summaries for FBXO48 Gene
GeneCards Summary for FBXO48 Gene
FBXO48 (F-Box Protein 48) is a Protein Coding gene. Diseases associated with FBXO48 include Parkinson Disease 15, Autosomal Recessive.
No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO48 Gene
Genomics for FBXO48 Gene
Regulatory Elements for FBXO48 Gene
Enhancers for FBXO48 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FBXO48 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FBXO48 gene promoter:
Regulatory Element Products
Genomic Location for FBXO48 Gene
- Chromosome:
- 2
- Start:
- 68,459,419 bp from pter
- End:
- 68,467,316 bp from pter
- Size:
- 7,898 bases
- Orientation:
- Minus strand
Genomic View for FBXO48 Gene
Genes around FBXO48 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p13.3 by Ensembl
- 2p13.3 by Entrez Gene
- 2p13.3 by HGNC
FBXO48 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FBXO48 Gene
Proteins for FBXO48 Gene
-
Protein details for FBXO48 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5FWF7-FBX48_HUMAN
- Recommended name:
- F-box only protein 48
- Protein Accession:
- Q5FWF7
Protein attributes for FBXO48 Gene
- Size:
- 155 amino acids
- Molecular mass:
- 18241 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for FBXO48 Gene
Other Protein References for FBXO48 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FBXO48
-
Abcam antibodies for FBXO48
- Invitrogen Antibodies for FBXO48
- Search GeneTex for Antibodies for FBXO48
Protein Products
-
OriGene Purified Proteins for FBXO48
- Search Origene for MassSpec and Protein Over-expression Lysates for FBXO48
- Origene Custom Protein Services for FBXO48
- Novus Biologicals proteins for FBXO48
- Search GeneTex for Proteins for FBXO48
Assay Products
No data available for DME Specific Peptides for FBXO48 Gene
Domains & Families for FBXO48 Gene
Gene Families for FBXO48 Gene
- HGNC:
Suggested Antigen Peptide Sequences for FBXO48 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for FBXO48 Gene
Function for FBXO48 Gene
Phenotypes for FBXO48 Gene
- GenomeRNAi human phenotypes for FBXO48:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for FBXO48 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FBXO48 gene
- Search ViGene Biosciences for FBXO48
CRISPR Products
-
OriGene CRISPR knockouts for FBXO48
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBXO48
- GenScript: Design CRISPR guide RNA sequences for FBXO48
miRNA for FBXO48 Gene
- miRTarBase miRNAs that target FBXO48
-
- hsa-mir-1277-5p (MIRT303262)
- hsa-mir-5011-5p (MIRT303263)
- hsa-mir-106b-5p (MIRT440652)
- hsa-mir-20a-5p (MIRT440653)
- hsa-mir-3926 (MIRT443212)
- hsa-mir-4313 (MIRT443213)
- hsa-mir-324-3p (MIRT443214)
- hsa-mir-4707-5p (MIRT443215)
- hsa-mir-1913 (MIRT443216)
- hsa-mir-3613-3p (MIRT443217)
- hsa-mir-6083 (MIRT523752)
- hsa-mir-190a-3p (MIRT523753)
- hsa-mir-7151-3p (MIRT679890)
- hsa-mir-5095 (MIRT679891)
- hsa-mir-365b-5p (MIRT679892)
- hsa-mir-365a-5p (MIRT679893)
- hsa-mir-8052 (MIRT679894)
- hsa-mir-3199 (MIRT679895)
- hsa-mir-6789-3p (MIRT679896)
- hsa-mir-6778-3p (MIRT679897)
- hsa-mir-4707-3p (MIRT679898)
- hsa-mir-1292-3p (MIRT679899)
- hsa-mir-4258 (MIRT679900)
- hsa-mir-4740-3p (MIRT679901)
- hsa-mir-4438 (MIRT679902)
- hsa-mir-19b-3p (MIRT727662)
- hsa-mir-19a-3p (MIRT727663)
- hsa-mir-519d-3p (MIRT727664)
- hsa-mir-93-5p (MIRT727665)
- hsa-mir-17-5p (MIRT727666)
- hsa-mir-20b-5p (MIRT727667)
miRNA Products
- Search ViGene Biosciences for FBXO48
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FBXO48
- Browse OriGene Inhibitory RNA Products For FBXO48
-
ViGene Biosciences ready-to-package AAV shRNAs for FBXO48 gene
Clone Products
-
OriGene ORF clones in human for FBXO48
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
Horizon Cell Lines for FBXO48
-
ViGene Biosciences adenoviral particle packaged cDNA for FBXO48 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FBXO48 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FBXO48 gene
Flow Cytometry Products
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXO48 Gene
Localization for FBXO48 Gene
| Compartment | Confidence |
|---|---|
| extracellular | 2 |
| nucleus | 2 |
| mitochondrion | 1 |
| cytosol | 1 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FBXO48 Gene
Transcripts for FBXO48 Gene
mRNA/cDNA for FBXO48 Gene
- (3) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for FBXO48
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBXO48
- GenScript: Design CRISPR guide RNA sequences for FBXO48
miRNA Products
- Search ViGene Biosciences for FBXO48
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FBXO48
- Browse OriGene Inhibitory RNA Products For FBXO48
-
ViGene Biosciences ready-to-package AAV shRNAs for FBXO48 gene
Clone Products
-
OriGene ORF clones in human for FBXO48
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for FBXO48 Gene
NURSA nuclear receptor signaling pathways regulating expression of FBXO48 Gene:
FBXO48SOURCE GeneReport for Unigene cluster for FBXO48 Gene:
Hs.164117Primer Products
-
OriGene qPCR primer pairs for FBXO48
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 FBXO48 Gene
Orthologs for FBXO48 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBXO48 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FBXO48 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FBXO48 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fbxo48 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fbxo48 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FBXO48 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FBXO48 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FBXO48 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FBXO48 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | LOC100537883 34 |
|
||
| FBXO48 35 |
|
OneToOne |
- Species where no ortholog for FBXO48 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)
- 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)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for FBXO48 Gene
No data available for Paralogs for FBXO48 Gene
Variants for FBXO48 Gene
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000125900 | -- | 68,468,988(+) | TAAAG(C/G)GGTGT | intron-variant, upstream-variant-2KB | |
| rs1000208879 | -- | 68,460,539(+) | TTTTA(C/T)ATATA | utr-variant-3-prime | |
| rs1000361613 | -- | 68,466,883(+) | AAGTG(A/C)AGTAA | intron-variant, upstream-variant-2KB | |
| rs1000392815 | -- | 68,467,045(+) | TTGCA(A/G)CTGCT | intron-variant, upstream-variant-2KB | |
| rs1000408231 | -- | 68,469,231(+) | TTGAA(A/C)CTTAA | intron-variant, upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3591168 | CNV | loss | 21293372 |
| esv3892603 | CNV | loss | 25118596 |
Residual Variation Intolerance Score:
53.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.24;
5.29% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for FBXO48 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FBXO48
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO48 Gene
Disorders for FBXO48 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| parkinson disease 15, autosomal recessive |
|
|
Search FBXO48 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for FBXO48
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- FBXO48
No data available for UniProtKB/Swiss-Prot and Genatlas for FBXO48 Gene
Publications for FBXO48 Gene
- Genetic analysis of the FBXO48 gene in Chinese Han patients with Parkinson disease. (PMID: 23485738) Xiu X. … Deng H. (Neurosci. Lett. 2013) 3 64
- Induction of IL-17 and nonclassical T-cell activation by HIV-Tat protein. (PMID: 23898208) Johnson T.P. … Nath A. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 64
- Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PMID: 22190364) Patsopoulos N.A. … de Bakker P.I. (Ann. Neurol. 2011) 3 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64
Products for FBXO48 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for FBXO48
- Search Origene for MassSpec and Protein Over-expression Lysates for FBXO48
- Origene Custom Protein Services for FBXO48
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FBXO48
- Browse OriGene Inhibitory RNA Products For FBXO48
- OriGene qPCR primer pairs for FBXO48
- OriGene CRISPR knockouts for FBXO48
- OriGene ORF clones in human for FBXO48
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For FBXO48
- GenScript: Next-day shipping cDNA ORF clone for FBXO48 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for FBXO48
- GenScript Custom Assay Services for FBXO48
- GenScript Custom overexpressing Cell Line Services for FBXO48
- GenScript: Design CRISPR guide RNA sequences for FBXO48
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for FBXO48
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for FBXO48
- Novus Biologicals proteins for FBXO48
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- ViGene Biosciences adenoviral particle packaged cDNA for FBXO48 gene
- ViGene Biosciences lentiviral particle packaged cDNA for FBXO48 gene
- ViGene Biosciences ready-to-package AAV shRNAs for FBXO48 gene
- Search ViGene Biosciences for FBXO48
- Horizon Cell Lines for FBXO48
- Cyagen custom Knockout/knockin (KOKI) mouse models for FBXO48
- VectorBuilder custom plasmid, inducible vectors for FBXO48
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FBXO48
- 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
Sources for FBXO48 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
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer