Aliases for FBXO38 Gene
Aliases for FBXO38 Gene
External Ids for FBXO38 Gene
- HGNC: 28844
- Entrez Gene: 81545
- Ensembl: ENSG00000145868
- OMIM: 608533
- UniProtKB: Q6PIJ6
Previous GeneCards Identifiers for FBXO38 Gene
- GC05P147795
- GC05P147743
- GC05P142910
Summaries for FBXO38 Gene
-
This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
GeneCards Summary for FBXO38 Gene
FBXO38 (F-Box Protein 38) is a Protein Coding gene. Diseases associated with FBXO38 include Neuronopathy, Distal Hereditary Motor, Type Iid and Distal Hereditary Motor Neuropathy, Type Ii.
UniProtKB/Swiss-Prot for FBXO38 Gene
-
Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. May coactivate KLF7, but does not seem to promote KLF7 ubiquitination (By similarity).
Additional gene information for FBXO38 Gene
- Monarch Initiative
- Search for FBXO38 at DataMed
- Search for FBXO38 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO38 Gene
Genomics for FBXO38 Gene
GeneHancer (GH) Regulatory Elements for FBXO38 Gene
Promoters and enhancers for FBXO38 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around FBXO38 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for FBXO38 Gene
Genomic Locations for FBXO38 Gene
- chr5:148,383,935-148,442,836
- (GRCh38/hg38)
- Size:
- 58,902 bases
- Orientation:
- Plus strand
- chr5:147,763,498-147,822,399
- (GRCh37/hg19)
Genomic View for FBXO38 Gene
Genes around FBXO38 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q32 by Ensembl
- 5q32 by Entrez Gene
- 5q32 by HGNC
FBXO38 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 FBXO38 Gene
Proteins for FBXO38 Gene
-
Protein details for FBXO38 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6PIJ6-FBX38_HUMAN
- Recommended name:
- F-box only protein 38
- Protein Accession:
- Q6PIJ6
- Q6PK72
- Q7Z2U0
- Q86VN3
- Q9BXY6
- Q9H837
- Q9HC40
Protein attributes for FBXO38 Gene
- Size:
- 1188 amino acids
- Molecular mass:
- 133944 Da
- Quaternary structure:
-
- Interacts with KLF7. Part of a SCF (SKP1-cullin-F-box) protein ligase complex (By similarity).
- SequenceCaution:
-
- Sequence=AAG17983.1; Type=Frameshift; Positions=783; Evidence={ECO:0000305}; Sequence=AAH56147.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAK34945.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14783.1; Type=Frameshift; Positions=349; Evidence={ECO:0000305};
Protein Expression for FBXO38 Gene
Post-translational modifications for FBXO38 Gene
- Ubiquitination at posLast=250250
Other Protein References for FBXO38 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
Abcam antibodies for FBXO38
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Protein Products
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- antibodies-online: Search results for 3 available FBXO38 Proteins ranked by validation data
- Compare Top FBXO38 Proteins
-
Quality Products:
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-
Abcam proteins for FBXO38
Assay Products
No data available for DME Specific Peptides for FBXO38 Gene
Domains & Families for FBXO38 Gene
Gene Families for FBXO38 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for FBXO38 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FBXO38 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q6PIJ6UniProtKB/Swiss-Prot:
FBX38_HUMAN :- The N-terminal region aa 1-349 seems to be involved in cytoplasmic localization.
- Domain:
-
- The N-terminal region aa 1-349 seems to be involved in cytoplasmic localization.
- The C-terminal region aa 473-1194 seems to be involved in nuclear localization.
Function for FBXO38 Gene
Molecular function for FBXO38 Gene
- UniProtKB/Swiss-Prot Function:
- Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. May coactivate KLF7, but does not seem to promote KLF7 ubiquitination (By similarity).
Phenotypes From GWAS Catalog for FBXO38 Gene
Phenotypes for FBXO38 Gene
- GenomeRNAi human phenotypes for FBXO38:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Decreased ionizing radiation sensitivity
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Increased transferrin (TF) endocytosis
- Wnt reporter downregulated
- Increased cell death HMECs cells
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
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miRNA for FBXO38 Gene
- miRTarBase miRNAs that target FBXO38
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- Yeast expression
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No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXO38 Gene
Localization for FBXO38 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FBXO38 Gene
- Cytoplasm. Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
- Nucleoplasm (3)
- Plasma membrane (3)
- Cytokinetic bridge (2)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for FBXO38 Gene
No Data Available
Interacting Proteins for FBXO38 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0010976 | positive regulation of neuron projection development | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for FBXO38 Gene
Transcripts for FBXO38 Gene
mRNA/cDNA for FBXO38 Gene
- (10) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (168) Selected AceView cDNA sequences:
- (20) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
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-
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-
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available FBXO38 gene related products
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- Applied Biological Materials Clones for FBXO38
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
| SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP14: |
| ExUns: | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c | ^ | 20 | ^ | 21a | · | 21b | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25a | · | 25b | ^ | 26 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||
| SP14: |
Expression for FBXO38 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (33.8), Blymphocyte (19.2), and Placenta (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBXO38 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of FBXO38 Gene:
FBXO38SOURCE GeneReport for Unigene cluster for FBXO38 Gene:
Hs.483772Evidence on tissue expression from TISSUES for FBXO38 Gene
- Nervous system(4.7)
- Liver(4.2)
- Muscle(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXO38 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- head
Limb:
- digit
- foot
- hand
- lower limb
- toe
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for FBXO38
-
OriGene qPCR primer pairs and template standards for FBXO38
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No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FBXO38 Gene
Orthologs for FBXO38 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBXO38 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FBXO38 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FBXO38 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Fbxo38 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | FBXO38 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FBXO38 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FBXO38 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FBXO38 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | FBXO38 34 |
|
OneToOne |
- Species where no ortholog for FBXO38 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)
- rat (Rattus norvegicus)
- 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 FBXO38 Gene
Pseudogenes.org Pseudogenes for FBXO38 Gene
No data available for Paralogs for FBXO38 Gene
Variants for FBXO38 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs112383068 | likely-benign, Distal hereditary motor neuronopathy 2D | 148,438,493(+) | C/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs116266000 | likely-benign, Distal hereditary motor neuronopathy 2D | 148,427,635(+) | C/A/T | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs11949133 | benign, Distal hereditary motor neuronopathy 2D | 148,433,450(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs143682696 | likely-benign, Distal hereditary motor neuronopathy 2D | 148,442,127(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs145662452 | uncertain-significance, Distal hereditary motor neuronopathy 2D | 148,441,228(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant |
Residual Variation Intolerance Score:
11.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.39;
90.87% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FBXO38 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO38 Gene
Disorders for FBXO38 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuronopathy, distal hereditary motor, type iid |
|
|
| distal hereditary motor neuropathy, type ii |
|
|
Search FBXO38 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FBX38_HUMAN- Neuronopathy, distal hereditary motor, 2D (HMN2D) [MIM:615575]: A disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal. {ECO:0000269 PubMed:24207122}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for FBXO38
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for FBXO38 Gene
Publications for FBXO38 Gene
- A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. (PMID: 24207122) Sumner CJ … Houlden H (American journal of human genetics 2013) 3 4 58
- Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T … Zhu X (Human genetics 2010) 3 44 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
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- 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
- antibodies-online: Search results for 23 available FBXO38 Antibodies ranked by validation data
- Compare Top FBXO38 Antibodies
- antibodies-online: Search results for 12 available FBXO38 Elisa Kits ranked by validation data
- Compare Top FBXO38 Elisa Kits
- antibodies-online: Search results for 3 available FBXO38 Proteins ranked by validation data
- Compare Top FBXO38 Proteins
- Quality Products:
- Search GeneTex for Antibodies for FBXO38
- Search GeneTex for Proteins for FBXO38
- ViGene Biosciences adenoviral particle packaged cDNA for FBXO38 gene
- ViGene Biosciences lentiviral particle packaged cDNA for FBXO38 gene
- ViGene Biosciences ready-to-package AAV shRNAs for FBXO38 gene
- Search ViGene Biosciences for FBXO38
- Horizon Cell Lines for FBXO38
- genomics-online: cdna clones - Search results for available FBXO38 gene related products
- orf clones - Search results for available FBXO38 gene related products
- genomics-online: gRNA clones - Search results for available FBXO38 gene related products
- genomics-online: primer clones - Search results for available FBXO38 gene related products
- genomics-online: shRNA clones - Search results for available FBXO38 gene related products
Sources for FBXO38 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) 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
- (103) GeneReviews
- (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
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew