Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6683
Gene name Gene Name - the full gene name approved by the HGNC.
Spastin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPAST
Synonyms (NCBI Gene) Gene synonyms aliases
ADPSP, FSP2, SPG4
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p22.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellul
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121908509 C>G Pathogenic Coding sequence variant, missense variant
rs121908510 G>A Pathogenic Coding sequence variant, missense variant
rs121908511 C>T Pathogenic Coding sequence variant, missense variant
rs121908512 A>G,T Pathogenic Coding sequence variant, missense variant
rs121908513 T>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021774 hsa-miR-132-3p Microarray 17612493
MIRT698981 hsa-miR-490-3p HITS-CLIP 23313552
MIRT698980 hsa-miR-302f HITS-CLIP 23313552
MIRT698979 hsa-miR-7851-3p HITS-CLIP 23313552
MIRT698978 hsa-miR-6808-5p HITS-CLIP 23313552
Transcription factors
Transcription factor Regulation Reference
NRF1 Activation 22574173
SOX11 Activation 22574173
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000281 Process Mitotic cytokinesis IMP 21310966
GO:0000922 Component Spindle pole IDA 15269182
GO:0001578 Process Microtubule bundle formation IDA 16219033
GO:0003824 Function Catalytic activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604277 11233 ENSG00000021574
Protein
UniProt ID Q9UBP0
Protein name Spastin (EC 5.6.1.1) (Spastic paraplegia 4 protein)
Protein function ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated (PubMed:11809724, PubMed:15716377, PubMed:16219033, PubMed:17389232, PubMed:20530212, PubMed:22637577, PubMed:26875866). Pref
PDB 3EAB , 3VFD , 5Z6Q , 5Z6R , 6PEK , 6PEN , 7S7J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00004 AAA 378 508 ATPase family associated with various cellular activities (AAA) Domain
PF17862 AAA_lid_3 533 587 AAA+ lid domain Domain
PF09336 Vps4_C 563 612 Vps4 C terminal oligomerisation domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. The short isoforms may predominate in brain and spinal cord. {ECO:0000269|PubMed:10610178}.
Sequence
MNSPGGRGKKKGSGGASNPVPPRPPPPCLAPAPPAAGPAPPPESPHKRNLYYFSYPLFVG
FALLRLVAFHLGLLFVWLCQRFSRALMAAKRSSGAAPAPASASAPAPVPGGEAERVRVFH
KQAFEYISIALRIDEDEKAGQKEQAVEWYKKGIEELEKGIAVIVTGQGEQCERARRLQAK
MMTNLVMAKDRLQLLEKMQPVLPFSKSQTDVYNDSTNLACRNGHLQSESGAVPKRKDPLT
HTSNSLPRSKTVMKTGSAGLSGHHRAPSYSGLSMVSGVKQGSGPAPTTHKGTPKTNRTNK
PSTPTTATRKKKDLKNFRNVDSNLANLIMNEIVDNGTAVKFDDIAGQDLAKQALQEIVIL
PSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEGE
KLVRALFAVARELQPSIIFIDEVDSLLCERREGEHDASRRLKTEFLIEFDGVQSAGDDRV
LVMGATNRPQELDEAVLRRFIKRVYVSL
PNEETRLLLLKNLLCKQGSPLTQKELAQLARM
TDGYSGSDLTALAKDAALGPIR
ELKPEQVKNMSASEMRNIRLSDFTESLKKIKRSVSPQT
LEAYIRWNKDFG
DTTV
Sequence length 616
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Sealing of the nuclear envelope (NE) by ESCRT-III
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia 4, Hereditary spastic paraplegia rs121908519, rs1558337136, rs1553317032, rs1060502230, rs1553319524, rs1553317029, rs1553319317, rs863224923, rs1573139616, rs1553399493, rs1558336927, rs1553400002, rs878854992, rs1573121594, rs587777754
View all (132 more)
N/A
Spastic Paraplegia spastic paraplegia rs1553314978, rs1573072864, rs1057518880 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cerebral palsy cerebral palsy N/A N/A ClinVar
Neurodevelopmental Disorders neurodevelopmental disorder N/A N/A GenCC
Spastic Ataxia spastic ataxia, Charlevoix-Saguenay spastic ataxia N/A N/A ClinVar, GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 35076175
Aldred syndrome Associate 10677329
Alzheimer Disease Associate 21659953, 22817815, 24690193, 32501971
Amyotrophic Lateral Sclerosis Associate 30778698
Aortic Aneurysm Familial Abdominal 1 Associate 18701882, 25421405
Astrocytoma Stimulate 21865889
Ataxia Associate 30778698
Cerebral Palsy Associate 35076175, 36103453
Dementia Associate 21659953, 25065914, 9507385
Disease Associate 32493220