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Aliases for FBXO38 Gene

Aliases for FBXO38 Gene

  • F-Box Protein 38 2 3 5
  • Modulator Of KLF7 Activity Homolog 3 4
  • MOKA 3 4
  • F-Box Only Protein 38 3
  • Fbx38 3
  • HMN2D 3
  • SP329 3

External Ids for FBXO38 Gene

Previous GeneCards Identifiers for FBXO38 Gene

  • GC05P147795
  • GC05P147743
  • GC05P142910

Summaries for FBXO38 Gene

Entrez Gene Summary 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).

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

Regulatory Elements for FBXO38 Gene

Enhancers for FBXO38 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G148185 1.3 FANTOM5 Ensembl ENCODE 17.3 -197.5 -197489 1.4 JUND JUN CEBPB FOS CEBPG EP300 MAFK SPINK6 FBXO38 LOC102546294 SPINK7 SPINK14
GH05G148473 1 Ensembl ENCODE 11.2 +90.4 90420 0.8 HDAC1 JUN CEBPG RFX5 FOSL1 POLR2A GATA2 EGR1 FOS SMARCE1 FBXO38 LOC102546294 SPINK14 GC05M148466 ENSG00000251330
GH05G148342 1 FANTOM5 ENCODE 11.1 -40.5 -40490 1.3 TBP CBX3 TAF1 TAL1 NR2F1 ZBED1 MAX ELF4 TCF12 ARID1B SPINK7 SPINK9 FBXO38 LOC102546294 SPINK14 ENSG00000283653
GH05G148730 1 Ensembl ENCODE 10.1 +347.3 347318 0.7 GTF2F1 CTCF RB1 CEBPG RAD21 ZNF101 RFX5 ZNF664 ARID3A FOXK2 ADRB2 LOC102546294 FBXO38 AFAP1L1 GC05M148692
GH05G148733 1 Ensembl ENCODE 10.1 +350.0 349966 0.6 BCOR CTCF ZMYM3 RAD21 RFX5 SCRT2 ZNF143 SMC3 ZNF600 DEK ADRB2 LOC102546294 FBXO38 AFAP1L1 GC05M148692
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBXO38 on UCSC Golden Path with GeneCards custom track

Promoters for FBXO38 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000188639 -135 2001 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for FBXO38 Gene

Chromosome:
5
Start:
148,383,935 bp from pter
End:
148,442,836 bp from pter
Size:
58,902 bases
Orientation:
Plus strand

Genomic View for FBXO38 Gene

Genes around FBXO38 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO38 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO38 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Alternative splice isoforms for FBXO38 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXO38 Gene

Post-translational modifications for FBXO38 Gene

  • Ubiquitination at Lys250
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FBXO38 Gene

Domains & Families for FBXO38 Gene

Gene Families for FBXO38 Gene

Protein Domains for FBXO38 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FBXO38 Gene

Graphical View of Domain Structure for InterPro Entry

Q6PIJ6

UniProtKB/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.
genes like me logo Genes that share domains with FBXO38: view

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).
genes like me logo Genes that share phenotypes with FBXO38: view

Human Phenotype Ontology for FBXO38 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for FBXO38 Gene

miRTarBase miRNAs that target FBXO38

Inhibitory RNA Products

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.

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 FBXO38 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for FBXO38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with FBXO38: view

Pathways & Interactions for FBXO38 Gene

SuperPathways for FBXO38 Gene

No Data Available

Interacting Proteins for FBXO38 Gene

Gene Ontology (GO) - Biological Process for FBXO38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010976 positive regulation of neuron projection development IEA --
genes like me logo Genes that share ontologies with FBXO38: view

No data available for Pathways by source and SIGNOR curated interactions for FBXO38 Gene

Drugs & Compounds for FBXO38 Gene

No Compound Related Data Available

Transcripts for FBXO38 Gene

Unigene Clusters for FBXO38 Gene

F-box protein 38:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO38 Gene

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 ^
SP1: - - - - - - -
SP2: - - - - - -
SP3: - -
SP4: -
SP5: - -
SP6: -
SP7: -
SP8: - - - - - - - - - - - - - - - - -
SP9: - -
SP10:
SP11:
SP12:
SP13:
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:

Relevant External Links for FBXO38 Gene

GeneLoc Exon Structure for
FBXO38
ECgene alternative splicing isoforms for
FBXO38

Expression for FBXO38 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBXO38 Gene

Protein differential expression in normal tissues from HIPED 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



Protein tissue co-expression partners for FBXO38 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FBXO38 Gene:

FBXO38

SOURCE GeneReport for Unigene cluster for FBXO38 Gene:

Hs.483772

Evidence 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
Organs:
Head and neck:
  • brain
  • cerebellum
  • head
Limb:
  • digit
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with FBXO38: view

Primer Products

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.

Orthologs for FBXO38 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXO38 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBXO38 35
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBXO38 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbxo38 35
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBXO38 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO38 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXO38 35
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBXO38 35
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii FBXO38 35
  • 71 (a)
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)

Evolution for FBXO38 Gene

ENSEMBL:
Gene Tree for FBXO38 (if available)
TreeFam:
Gene Tree for FBXO38 (if available)

Paralogs for FBXO38 Gene

Pseudogenes.org Pseudogenes for FBXO38 Gene

genes like me logo Genes that share paralogs with FBXO38: view

No data available for Paralogs for FBXO38 Gene

Variants for FBXO38 Gene

Sequence variations from dbSNP and Humsavar for FBXO38 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs398122838 Pathogenic, Neuronopathy, distal hereditary motor, 2D (HMN2D) [MIM:615575] 148,404,708(+) TTCCT(C/T)GTATC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1000026466 -- 148,395,447(+) TATTT(G/T)TACCC intron-variant
rs1000029730 -- 148,407,854(+) TGGGA(A/G)GCAGA intron-variant
rs1000047153 -- 148,436,232(+) ATGAG(-/AA)ATGCC intron-variant
rs1000062953 -- 148,440,901(+) AGATT(G/T)CTTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FBXO38 Gene

Variant ID Type Subtype PubMed ID
esv3398458 CNV insertion 20981092
nsv477478 CNV novel sequence insertion 20440878
nsv830516 CNV loss 17160897

Variation tolerance for FBXO38 Gene

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)

Relevant External Links for FBXO38 Gene

Human Gene Mutation Database (HGMD)
FBXO38
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXO38

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO38 Gene

Disorders for FBXO38 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FBXO38 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
neuronopathy, distal hereditary motor, type iid
  • neuronopathy, distal hereditary motor, 2d
distal hereditary motor neuropathy, type ii
  • dsma2
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for FBXO38

Genetic Association Database (GAD)
FBXO38
Human Genome Epidemiology (HuGE) Navigator
FBXO38
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBXO38
genes like me logo Genes that share disorders with FBXO38: view

No data available for Genatlas for FBXO38 Gene

Publications for FBXO38 Gene

  1. A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. (PMID: 24207122) Sumner C.J. … Houlden H. (Am. J. Hum. Genet. 2013) 3 4 64
  2. Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T. … Zhu X. (Hum. Genet. 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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) 3 4 64
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D. … Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 64

Products for FBXO38 Gene

Sources for FBXO38 Gene

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