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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 chromosom... See more...
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 Neuronopathy Type 2.
UniProtKB/Swiss-Prot Summary for FBXO38 Gene
-
Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of PDCD1/PD-1, thereby regulating T-cells-mediated immunity (PubMed:30487606). Required for anti-tumor activity of T-cells by promoting the degradation of PDCD1/PD-1; the PDCD1-mediated inhibitory pathway being exploited by tumors to attenuate anti-tumor immunity and facilitate tumor survival (PubMed:30487606). May indirectly stimulate the activity of transcription factor KLF7, a regulator of neuronal differentiation, without promoting KLF7 ubiquitination (By similarity).
Additional gene information for FBXO38 Gene
- HGNC(28844)
- Entrez Gene(81545)
- Ensembl(ENSG00000145868)
- OMIM(608533)
- UniProtKB(Q6PIJ6)
- Open Targets Platform(ENSG00000145868)
- 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 , Rfam classification and piRNA Summary for FBXO38 Gene
Genomics for FBXO38 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FBXO38 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FBXO38 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBXO38
- Top Transcription factor binding sites by QIAGEN in the FBXO38 gene promoter:
-
- AML1a
- c-Ets-1
- En-1
- GR
- GR-alpha
- GR-beta
- POU2F1a
- POU3F1
- Spz1
- YY1
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)
- 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:
-
- 5q32 by HGNC
- 5q32 by Entrez Gene
- 5q32 by Ensembl
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:
-
- Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO38) composed of CUL1, SKP1, RBX1 and FBXO38 (Probable). Interacts with KLF7 (By similarity). Interacts with PDCD1/PD-1 (PubMed:30487606).
- SequenceCaution:
-
- Sequence=AAG17983.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH56147.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAK34945.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14783.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for FBXO38 Gene
Post-translational modifications for FBXO38 Gene
Other Protein References for FBXO38 Gene
Antibody Products
- Creative Diagnostics Anti-FBXO38 monoclonal antibody
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-
Abcam antibodies for FBXO38
- Invitrogen Antibodies for FBXO38 (AFLGC-FBXO38)
-
Boster Bio Antibodies for FBXO38
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for FBXO38
- Origene Custom Protein Services for FBXO38
- antibodies-online: Show 3 available FBXO38 Proteins ranked by validation data
- Compare Top FBXO38 Proteins
-
Quality Products:
-
Signalway Proteins for FBXO38
-
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:
-
- FBXO38 protein (A0PJ52_HUMAN)
- Modulator of KLF7 activity homolog (FBX38_HUMAN)
- FBXO38 protein (Q6AZE0_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FBXO38 Gene
Function for FBXO38 Gene
Molecular function for FBXO38 Gene
- UniProtKB/Swiss-Prot Function:
- Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of PDCD1/PD-1, thereby regulating T-cells-mediated immunity (PubMed:30487606). Required for anti-tumor activity of T-cells by promoting the degradation of PDCD1/PD-1; the PDCD1-mediated inhibitory pathway being exploited by tumors to attenuate anti-tumor immunity and facilitate tumor survival (PubMed:30487606). May indirectly stimulate the activity of transcription factor KLF7, a regulator of neuronal differentiation, without promoting KLF7 ubiquitination (By similarity).
- UniProtKB/Swiss-Prot Induction:
- Up-regulated by IL2 (PubMed:30487606). Down-regulated in tumor-infiltrating T-cells (PubMed:30487606).
Phenotypes From GWAS Catalog for FBXO38 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 30487606 |
Phenotypes for FBXO38 Gene
- GenomeRNAi human phenotypes for FBXO38:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Increased cell death HMECs cells
- Decreased transferrin (TF) endocytosis, decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased viability
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Decreased ionizing radiation sensitivity
- Wnt reporter downregulated
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FBXO38 - Select products 50% OFF >
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OriGene CRISPR knockouts for FBXO38
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-
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miRNA for FBXO38 Gene
- miRTarBase miRNAs that target FBXO38
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FBXO38
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Clone Products
- Applied Biological Materials (abm): Clones for FBXO38 - Select products 50% OFF >
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-
- MG211785
- MR211785
- MR211785L3
- MR211785L4
- RC204380
- RC204380L1
- RC204380L2
- RC204380L3
- RC204380L4
- RC224439
- RC224439L1
- RC224439L2
- RC224439L3
- RC224439L4
- RC235066
- RG204380
- RG224439
- RG235066
- MR211785L3V
- MR211785L4V
- RC204380L1V
- RC204380L2V
- RC204380L3V
- RC204380L4V
- RC224439L1V
- RC224439L2V
- RC224439L3V
- RC224439L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FBXO38
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FBXO38
Cell Line Products
-
Horizon Cell Lines for FBXO38
No data available for Enzyme Numbers (IUBMB) , 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, cytosol. Nucleus. Note=Accumulates predominantly in the cytosol. Exported from the nucleus in a XPO1/CRM1-dependent manner. {ECO:0000250 UniProtKB:Q8BMI0}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| plasma membrane | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Nucleoplasm (3)
- Plasma membrane (3)
- Cytokinetic bridge (2)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | ISS | -- |
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0005829 | cytosol | IEA | -- |
| GO:0019005 | SCF ubiquitin ligase complex | TAS | 30487606 |
Pathways & Interactions for FBXO38 Gene
UniProtKB/Swiss-Prot Q6PIJ6-FBX38_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for FBXO38 Gene
GPS-Prot Interaction Network for FBXO38
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002250 | adaptive immune response | IEA | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0002842 | positive regulation of T cell mediated immune response to tumor cell | IDA | 30487606 |
| GO:0010976 | positive regulation of neuron projection development | IEA | -- |
| GO:0016567 | protein ubiquitination | IEA | -- |
No data available for Pathways by source for FBXO38 Gene
Transcripts for FBXO38 Gene
mRNA/cDNA for FBXO38 Gene
- 3 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000296701 3680 nts (view in UCSC)
- ENST00000340253 4401 nts (view in UCSC)
- ENST00000394370 4132 nts (view in UCSC)
- ENST00000502571 605 nts (view in UCSC)
- ENST00000502629 386 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FBXO38 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FBXO38
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FBXO38
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBXO38
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FBXO38
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Clone Products
- Applied Biological Materials (abm): Clones for FBXO38 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211785
- MR211785
- MR211785L3
- MR211785L4
- RC204380
- RC204380L1
- RC204380L2
- RC204380L3
- RC204380L4
- RC224439
- RC224439L1
- RC224439L2
- RC224439L3
- RC224439L4
- RC235066
- RG204380
- RG224439
- RG235066
- MR211785L3V
- MR211785L4V
- RC204380L1V
- RC204380L2V
- RC204380L3V
- RC204380L4V
- RC224439L1V
- RC224439L2V
- RC224439L3V
- RC224439L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FBXO38
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FBXO38
| 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
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, MaxQB, and MOPED for FBXO38 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBXO38
SOURCE GeneReport for Unigene cluster for FBXO38 Gene:
Hs.483772Evidence on tissue expression from TISSUES for FBXO38 Gene
- Nervous system(4.8)
- Liver(4.4)
- Muscle(4.4)
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
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FBXO38 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FBXO38 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FBXO38 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Fbxo38 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | FBXO38 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FBXO38 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FBXO38 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FBXO38 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | FBXO38 31 |
|
OneToOne |
- Species where no ortholog for FBXO38 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for FBXO38: view image
Paralogs for FBXO38 Gene
Pseudogenes.org Pseudogenes for FBXO38 Gene
No data available for Paralogs for FBXO38 Gene
Variants for FBXO38 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBXO38 Gene
| SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638363 | Uncertain Significance: Distal hereditary motor neuronopathy 2D | 148,427,369(+) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
| 639253 | Uncertain Significance: Distal hereditary motor neuronopathy 2D | 148,440,514(+) | C/G | MISSENSE_VARIANT | |
| 640185 | Uncertain Significance: Distal hereditary motor neuronopathy 2D | 148,402,005(+) | A/G | MISSENSE_VARIANT | |
| 643077 | Uncertain Significance: Distal hereditary motor neuronopathy 2D | 148,441,971(+) | A/C | MISSENSE_VARIANT | |
| 643331 | Uncertain Significance: Distal hereditary motor neuronopathy 2D | 148,409,170(+) | T/G | MISSENSE_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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO38 Gene
Disorders for FBXO38 Gene
(8) MalaCards diseases for FBXO38 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuronopathy, distal hereditary motor, type iid |
|
|
| distal hereditary motor neuronopathy type 2 |
|
|
| autosomal dominant distal hereditary motor neuronopathy |
|
|
| spinal muscular atrophy |
|
|
| muscular atrophy |
|
|
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
- Open Targets Platform
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) 2 3 4
- FBXO38 mediates PD-1 ubiquitination and regulates anti-tumour immunity of T cells. (PMID: 30487606) Meng X … Xu C (Nature 2018) 3 4
- Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T … Zhu X (Human genetics 2010) 3 41
- 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
- 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
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