SPART (spartin)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23111
Gene name Spartin
Gene symbol SPART
Synonyms (NCBI Gene)
SPG20TAHCCP1
Chromosome 13
Chromosome location 13q13.3
Summary This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with
SNPs SNP information provided by dbSNP.
9
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
SNP ID Visualize variation Clinical significance Consequence
rs148833652 T>A,C Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, non coding transcript variant, coding sequence variant
rs200373703 G>A,C,T Pathogenic Missense variant, non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs730882198 ->T Likely-pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs748835312 G>A,C Pathogenic Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs770560051 A>-,AA Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
121
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (121)
miRTarBase ID miRNA Experiments Reference
MIRT510725 hsa-miR-19a-3p PAR-CLIP 20371350
MIRT031237 hsa-miR-19b-3p PAR-CLIP 20371350
MIRT510724 hsa-miR-454-3p PAR-CLIP 20371350
MIRT510723 hsa-miR-4295 PAR-CLIP 20371350
MIRT510722 hsa-miR-3666 PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
WWP1 Unknown 19307600
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20719964, 32296183, 32814053, 37443287
GO:0005737 Component Cytoplasm IDA 19580544
GO:0005737 Component Cytoplasm IEA
GO:0005741 Component Mitochondrial outer membrane IDA 21559443
GO:0005811 Component Lipid droplet IDA 37443287, 38190532
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607111 18514 ENSG00000133104
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N0X7
Protein name Spartin (Spastic paraplegia 20 protein) (Trans-activated by hepatitis C virus core protein 1)
Protein function Lipophagy receptor that plays an important role in lipid droplet (LD) turnover in motor neurons (PubMed:37443287). Localizes to LDs and interacts with components of the autophagy machinery, such as MAP1LC3A/C proteins to deliver LDs to autophago
PDB 2DL1 , 4U7I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06911 Senescence 427 → 611 Senescence-associated protein Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels of expression detected in adipose tissue.
Sequence 
MEQEPQNGEPAEIKIIREAYKKAFLFVNKGLNTDELGQKEEAKNYYKQGIGHLLRGISIS
SKESEHTGPGWESARQMQQKMKETLQNVRTRLEILEKGLATSLQNDLQEVPKLYPEFPPK
DMCEKLPEPQSFSSAPQHAEVNGNTSTPSAGAVAAPASLSLPSQSCPAEAPPAYTPQAAE
GHYTVSYGTDSGEFSSVGEEFYRNHSQPPPLETLGLDADELILIPNGVQIFFVNPAGEVS
APSYPGYLRIVRFLDNSLDTVLNRPPGFLQVCDWLYPLVPDRSPVLKCTAGAYMFPDTML
QAAGCFVGVVLSSELPEDDRELFEDLLRQMSDLRLQANWNRAEEENEFQIPGRTRPSSDQ
LKEASGTDVKQLDQGNKDVRHKGKRGKRAKDTSSEEVNLSHIVPCEPVPEEKPKELPEWS
EKVAHNILSGASWVSWGLVKGAEITGKAIQKGASKLRERIQPEEKPVEVSPAVTKGLYIA
KQATGGAAKVSQFLVDGVCTVANCVGKELAPHVKKHGSKLVPESLKKDKDGKSPLDGAMV
VAASSVQGFSTVWQGLECAAKCIVNNVSAETVQTVRYKYGYNAGEATHHAVDSAVNVGVT
AYNINNIGIKAMVKKTATQTGHTLLEDYQIVDNSQRENQEGAANVNVRGEKDEQTKEVKE
AKKKDK
Sequence length 666
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Endocytosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental delay Likely pathogenic; Pathogenic rs2137548453, rs775736341, rs200373703 RCV002274398
RCV002273920
RCV002274027
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPART-related disorder Pathogenic; Likely pathogenic rs1060499524, rs748865622 RCV003904801
RCV003404104
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Troyer syndrome Pathogenic; Likely pathogenic rs2137335988, rs2137548824, rs2137515973, rs730882198, rs1060499524, rs775736341, rs770560051, rs771101723, rs200373703, rs777288668 RCV003147629
RCV001808022
RCV002251090
RCV001170017
RCV000003621
View all (5 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (17)
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 Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (87)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer CTD_human_DG 23525077
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 21499309, 21777459
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy Pubtator 29476661 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 28324774
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 36035305 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Apraxia of Phonation Apraxia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autosomal Recessive Hereditary Spastic Paraplegia Spastic paraplegia BEFREE 17332501, 24523286, 25821002
★★★★★
★☆☆☆☆
Found in Text Mining only
Autosomal recessive spastic paraplegia type 20 Spastic Paraplegia Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations