Gene Gene information from NCBI Gene database.
Entrez ID 6683
Gene name Spastin
Gene symbol SPAST
Synonyms (NCBI Gene)
ADPSPFSP2SPG4
Chromosome 2
Chromosome location 2p22.3
Summary 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.
166
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.
581
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 factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
NRF1 Activation 22574173
SOX11 Activation 22574173
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
89
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604277 11233 ENSG00000021574
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
44
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal central motor function Likely pathogenic; Pathogenic rs878854991 RCV001814125
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal myelination Pathogenic rs1553315329 RCV000626921
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatigue Pathogenic rs1553315329 RCV000626921
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Flexion contracture Likely pathogenic; Pathogenic rs1060502227 RCV000626922
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATYPICAL FEMORAL FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4 Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cerebral palsy Benign; Likely benign; other; risk factor ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 21659953, 22817815, 24690193, 32501971 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer disease, familial, type 3 Alzheimer disease BEFREE 24690193
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 16240363, 18608088
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 30778698 Associate
★☆☆☆☆
Found in Text Mining only
Arachnoid Cysts Arachnoid cyst BEFREE 15159500
★☆☆☆☆
Found in Text Mining only
Arachnoid Cysts Arachnoid cyst LHGDN 15159500
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 21865889
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 21865889 Stimulate
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 30778698 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28778789
★☆☆☆☆
Found in Text Mining only