Aliases for SPG11 Gene
Aliases for SPG11 Gene
External Ids for SPG11 Gene
- HGNC: 11226
- Entrez Gene: 80208
- Ensembl: ENSG00000104133
- OMIM: 610844
- UniProtKB: Q96JI7
Previous HGNC Symbols for SPG11 Gene
- KIAA1840
Previous GeneCards Identifiers for SPG11 Gene
- GC15U990075
- GC15M042644
- GC15M044854
- GC15M021678
Summaries for SPG11 Gene
-
The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
GeneCards Summary for SPG11 Gene
SPG11 (SPG11, Spatacsin Vesicle Trafficking Associated) is a Protein Coding gene. Diseases associated with SPG11 include Spastic Paraplegia 11, Autosomal Recessive and Charcot-Marie-Tooth Disease, Axonal, Type 2X.
UniProtKB/Swiss-Prot for SPG11 Gene
-
May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.
Additional gene information for SPG11 Gene
- Monarch Initiative
- Search for SPG11 at DataMed
- Search for SPG11 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPG11 Gene
Genomics for SPG11 Gene
GeneHancer (GH) Regulatory Elements for SPG11 Gene
Promoters and enhancers for SPG11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SPG11 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for SPG11 Gene
Genomic Locations for SPG11 Gene
- chr15:44,562,696-44,663,678
- (GRCh38/hg38)
- Size:
- 100,983 bases
- Orientation:
- Minus strand
- chr15:44,854,894-44,955,876
- (GRCh37/hg19)
Genomic View for SPG11 Gene
Genes around SPG11 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q21.1 by Ensembl
- 15q21.1 by Entrez Gene
- 15q21.1 by HGNC
SPG11 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 SPG11 Gene
Proteins for SPG11 Gene
-
Protein details for SPG11 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96JI7-SPTCS_HUMAN
- Recommended name:
- Spatacsin
- Protein Accession:
- Q96JI7
- A8KAX9
- B9EK60
- F5H3N6
- Q4VC11
- Q58G86
- Q69YG6
- Q6NW01
- Q8N270
- Q8TBU9
- Q9H734
Protein attributes for SPG11 Gene
- Size:
- 2443 amino acids
- Molecular mass:
- 278868 Da
- Quaternary structure:
-
- Interacts with AP5Z1, AP5B1, AP5S1 and ZFYVE26.
- SequenceCaution:
-
- Sequence=AAH24161.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAX54692.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15065.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC03600.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for SPG11 Gene
Post-translational modifications for SPG11 Gene
- Ubiquitination at posLast=311311, posLast=326326, isoforms=2, 3550, isoforms=2, 3819, posLast=844844, posLast=11171117, isoforms=2, 31417, posLast=15771577, posLast=17061706, isoforms=2, 31724, posLast=17461746, isoforms=2, 31845, posLast=18531853, posLast=22082208, and isoforms=32368
- Glycosylation at isoforms=2, 3612 and posLast=10461046
Other Protein References for SPG11 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SPG11
- Novus Biologicals Antibodies for SPG11
- Invitrogen Antibodies for SPG11
- Search GeneTex for Antibodies for SPG11
-
Custom Antibody ServicesProSci Antibodies for SPG11
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SPG11
- Origene Custom Protein Services for SPG11
- Search GeneTex for Proteins for SPG11
-
Abcam proteins for SPG11
Assay Products
- antibodies-online: Search results for 2 available SPG11 Elisa Kits ranked by validation data
- Compare Top SPG11 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SPG11 Gene
Domains & Families for SPG11 Gene
Gene Families for SPG11 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for SPG11 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SPG11 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for SPG11 Gene
Function for SPG11 Gene
Molecular function for SPG11 Gene
- UniProtKB/Swiss-Prot Function:
- May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.
Phenotypes From GWAS Catalog for SPG11 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 20613862 |
Phenotypes for SPG11 Gene
- MGI mutant phenotypes for SPG11:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SPG11:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SPG11
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SPG11 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SPG11 gene
- Search ViGene Biosciences for SPG11
CRISPR Products
-
OriGene CRISPR knockouts for SPG11
- genomics-online: gRNA clones - Search results for 84 available SPG11 gene related products
- Overview of 84 available SPG11 gene related products
- Applied Biological Materials CRISPR for SPG11
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPG11
- GenScript: Design CRISPR guide RNA sequences for SPG11
miRNA for SPG11 Gene
- miRTarBase miRNAs that target SPG11
miRNA Products
- Search ViGene Biosciences for SPG11
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SPG11
- Browse OriGene Inhibitory RNA Products For SPG11
- genomics-online: shRNA clones - Search results for 84 available SPG11 gene related products
- Overview of 84 available SPG11 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SPG11 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SPG11
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPG11
-
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 SPG11
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SPG11
-
ViGene Biosciences adenoviral particle packaged cDNA for SPG11 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SPG11 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SPG11 gene
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SPG11 Gene
Localization for SPG11 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SPG11 Gene
- Cytoplasm, cytosol. Nucleus. Cell projection, axon. Cell projection, dendrite. Note=Mainly cytoplasmic. {ECO:0000269 PubMed:17322883}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| lysosome | 5 |
| peroxisome | 1 |
| endosome | 1 |
- Cytosol (3)
- Nucleoli (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005737 | cytoplasm | IDA | 21545838 |
| GO:0005765 | lysosomal membrane | IDA,HDA | 17897319 |
| GO:0005829 | cytosol | ISS,IDA | -- |
Pathways & Interactions for SPG11 Gene
No Data Available
Interacting Proteins for SPG11 Gene
Selected Interacting proteins:
ENSP00000261866
Q96JI7-SPTCS_HUMAN
for SPG11 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007040 | lysosome organization | IEA | -- |
| GO:0007268 | chemical synaptic transmission | IMP | 24794856 |
| GO:0008088 | axo-dendritic transport | IMP | 24794856 |
| GO:0048489 | synaptic vesicle transport | IMP | 24794856 |
| GO:0048675 | axon extension | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for SPG11 Gene
Transcripts for SPG11 Gene
mRNA/cDNA for SPG11 Gene
- (7) REFSEQ mRNAs :
- (239) Selected AceView cDNA sequences:
- (25) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for SPG11
- genomics-online: gRNA clones - Search results for 84 available SPG11 gene related products
- Overview of 84 available SPG11 gene related products
- Applied Biological Materials CRISPR for SPG11
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPG11
- GenScript: Design CRISPR guide RNA sequences for SPG11
miRNA Products
- Search ViGene Biosciences for SPG11
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SPG11
- Browse OriGene Inhibitory RNA Products For SPG11
- genomics-online: shRNA clones - Search results for 84 available SPG11 gene related products
- Overview of 84 available SPG11 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SPG11 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SPG11
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPG11
-
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 SPG11
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: |
| ExUns: | 24b | ^ | 25 | ^ | 26a | · | 26b | ^ | 27a | · | 27b | · | 27c | · | 27d | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34a | · | 34b | · | 34c | · | 34d | ^ | 35 | ^ | 36 | ^ | 37a | · | 37b | · | 37c | · | 37d | ^ | 38 | ^ | 39a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: |
| ExUns: | 39b | ^ | 40 | ^ | 41a | · | 41b | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||
| SP2: | |||||||||||||||
| SP3: | - | ||||||||||||||
| SP4: | - | ||||||||||||||
| SP5: | |||||||||||||||
| SP6: | |||||||||||||||
| SP7: | |||||||||||||||
| SP8: | |||||||||||||||
| SP9: | |||||||||||||||
| SP10: | |||||||||||||||
| SP11: | |||||||||||||||
| SP12: | |||||||||||||||
| SP13: | - | - | |||||||||||||
| SP14: |
Expression for SPG11 Gene
This gene is overexpressed in Bone marrow mesenchymal stem cell (22.2), Peripheral blood mononuclear cells (15.6), Kidney (8.3), and Blymphocyte (6.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPG11 Gene
NURSA nuclear receptor signaling pathways regulating expression of SPG11 Gene:
SPG11SOURCE GeneReport for Unigene cluster for SPG11 Gene:
Hs.656271mRNA Expression by UniProt/SwissProt for SPG11 Gene:
Q96JI7-SPTCS_HUMAN
Tissue specificity:
Expressed in all structures of brain, with a high expression in cerebellum. Expressed in cortical projection neurons.
Evidence on tissue expression from TISSUES for SPG11 Gene
- Nervous system(4.8)
- Intestine(4.3)
- Liver(4.3)
- Lung(2.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SPG11 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- face
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- pharynx
- salivary gland
- skull
- tongue
Thorax:
- esophagus
- lung
Abdomen:
- stomach
Pelvis:
- prostate
- urethra
- urinary bladder
Limb:
- ankle
- arm
- digit
- finger
- foot
- forearm
- hand
- knee
- lower limb
- shin
- thigh
- toe
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for SPG11
- genomics-online: primer clones - Search results for 84 available SPG11 gene related products
- Overview of 84 available SPG11 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 Protein tissue co-expression partners for SPG11 Gene
Orthologs for SPG11 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SPG11 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SPG11 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SPG11 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Spg11 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Spg11 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SPG11 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | SPG11 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SPG11 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | MGC75755 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | spg11 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG13531 34 |
|
OneToOne |
- Species where no ortholog for SPG11 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)
- 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)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for SPG11 Gene
No data available for Paralogs for SPG11 Gene
Variants for SPG11 Gene
| SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1024346199 | uncertain-significance, Spastic paraplegia 11, autosomal recessive | 44,584,469(-) | A/T | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs1057518874 | likely-pathogenic, Difficulty walking, Gait disturbance, Generalized hyperreflexia, Spastic paraparesis | 44,598,738(-) | C/A | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs1060499768 | likely-pathogenic, Abnormality of brain morphology | 44,584,505(-) | TT/T | coding_sequence_variant, frameshift, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant | |
| rs1060501168 | pathogenic, Spastic paraplegia 11, autosomal recessive | 44,575,042(-) | C/A | genic_downstream_transcript_variant, intron_variant, splice_acceptor_variant | |
| rs1060501169 | uncertain-significance, Spastic paraplegia 11, autosomal recessive | 44,565,967(-) | TGGTG/TG | coding_sequence_variant, genic_downstream_transcript_variant, inframe_deletion |
Residual Variation Intolerance Score:
3.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
15.43;
97.14% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SPG11 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPG11 Gene
Disorders for SPG11 Gene
(30) MalaCards diseases for SPG11 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 11, autosomal recessive |
|
|
| charcot-marie-tooth disease, axonal, type 2x |
|
|
| amyotrophic lateral sclerosis 5, juvenile |
|
|
| amyotrophic lateral sclerosis type 5 |
|
|
| spastic paraplegia 11 |
|
|
Search SPG11 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SPTCS_HUMAN- Amyotrophic lateral sclerosis 5, juvenile (ALS5) [MIM:602099]: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS5 is an autosomal recessive, juvenile form characterized by onset of upper and lower motor neuron signs before age 25. {ECO:0000269 PubMed:20110243}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Charcot-Marie-Tooth disease 2X (CMT2X) [MIM:616668]: An autosomal recessive, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2X patients manifest a slowly progressive, peripheral neuropathy affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Some patients also have upper limb involvement. {ECO:0000269 PubMed:26556829}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:17322883, ECO:0000269 PubMed:18079167, ECO:0000269 PubMed:19105190, ECO:0000269 PubMed:27217339}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SPG11
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SPG11 Gene
Publications for SPG11 Gene
- Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. (PMID: 17322883) Stevanin G … Brice A (Nature genetics 2007) 2 3 4 58
- ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. (PMID: 26556829) Montecchiani C … Orlacchio A (Brain : a journal of neurology 2016) 3 4 58
- Genetic and phenotypic characterization of complex hereditary spastic paraplegia. (PMID: 27217339) Kara E … Houlden H (Brain : a journal of neurology 2016) 3 4 58
- Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia. (PMID: 24794856) Pérez-Brangulí F … Winner B (Human molecular genetics 2014) 3 4 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
Products for SPG11 Gene
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Sources for SPG11 Gene
- (1) GeneCards
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