SPART — spartin

5 sources retrieved · Most recent: April 2026 · Index updated 5 months ago

135PubMed Papers

#3,439 · top 18% of 19K genes

21Diseases

top 12%

0Drugs

29Pathogenic Variants

top 34%

OMIM Disease GeneTransporterExperimental GO EvidenceSwiss-Prot Reviewed

regulation of mitochondrial membrane potentialprotein bindinglipid bindingubiquitin protein ligase bindingTroyer syndromeNeurodevelopmental delayhereditary diseaseGlobal developmental delay

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

spartin

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

Troyer syndromeOpen Targets

0.80Strong

Neurodevelopmental delayOpen Targets

0.45Moderate

hereditary diseaseOpen Targets

0.42Moderate

Global developmental delayOpen Targets

0.26Weak

cerebellar ataxiaOpen Targets

0.26Weak

StrabismusOpen Targets

0.26Weak

DysarthriaOpen Targets

0.26Weak

Failure to thriveOpen Targets

0.26Weak

microcephalyOpen Targets

0.26Weak

eye disorderOpen Targets

0.25Weak

retinal disorderOpen Targets

0.23Weak

retinoschisisOpen Targets

0.23Weak

hereditary spastic paraplegiaOpen Targets

0.19Weak

response to antihypertensive drugOpen Targets

0.17Weak

colonic neoplasmOpen Targets

0.08Suggestive

malignant colon neoplasmOpen Targets

0.07Suggestive

gastric cancerOpen Targets

0.07Suggestive

familial thoracic aortic aneurysm and aortic dissectionOpen Targets

0.06Suggestive

Rare genetic vascular diseaseOpen Targets

0.06Suggestive

Emery-Dreifuss muscular dystrophyOpen Targets

0.05Suggestive

Spastic paraplegia 20, autosomal recessiveUniProt

Pathogenic Variants29

NM_015087.5(SPART):c.364_365del (p.Met122fs)Pathogenic

Troyer syndrome|Inborn genetic diseases|not provided|Neurodevelopmental delay|Epilepsy

★★☆☆2026→ Residue 122

NM_015087.5(SPART):c.1369C>T (p.Arg457Ter)Pathogenic

not provided|Troyer syndrome|Neurodevelopmental delay|Epilepsy

★★☆☆2026→ Residue 457

NM_015087.5(SPART):c.696dup (p.Val233fs)Pathogenic

Troyer syndrome|not provided

★★☆☆2025→ Residue 233

NM_015087.5(SPART):c.685C>T (p.Gln229Ter)Pathogenic

not provided|Troyer syndrome

★★☆☆2025→ Residue 229

NM_015087.5(SPART):c.1474_1477del (p.Gln492fs)Pathogenic

Troyer syndrome|not provided

★★☆☆2024→ Residue 492

NM_015087.5(SPART):c.776del (p.Asp259fs)Pathogenic

not provided|SPART-related disorder

★★☆☆2024→ Residue 259

NM_015087.5(SPART):c.1110del (p.Lys370fs)Pathogenic

Troyer syndrome|not provided|SPART-related disorder

★★☆☆2023→ Residue 370

NM_015087.5(SPART):c.696del (p.Phe232fs)Pathogenic

not provided

★★☆☆2023→ Residue 232

NM_015087.5(SPART):c.1294del (p.Ser432fs)Pathogenic

not provided|Troyer syndrome

★★☆☆2022→ Residue 432

NM_015087.5(SPART):c.853_856del (p.Pro284_Val285insTer)Pathogenic

not provided

★☆☆☆2025→ Residue 284

NM_015087.5(SPART):c.1483+1G>ALikely pathogenic

not provided

★☆☆☆2025

NM_015087.5(SPART):c.1008+1G>CLikely pathogenic

not provided

★☆☆☆2025

NM_015087.5(SPART):c.844_847del (p.Arg282fs)Pathogenic

not provided

★☆☆☆2025→ Residue 282

NM_015087.5(SPART):c.1257G>A (p.Trp419Ter)Pathogenic

not provided

★☆☆☆2024→ Residue 419

NM_015087.5(SPART):c.253_254del (p.Leu85fs)Pathogenic

not provided

★☆☆☆2024→ Residue 85

NM_015087.5(SPART):c.1324G>C (p.Ala442Pro)Likely pathogenic

Troyer syndrome

★☆☆☆2024→ Residue 442

NM_015087.5(SPART):c.1738G>T (p.Gly580Ter)Likely pathogenic

Troyer syndrome

★☆☆☆2023→ Residue 580

NM_015087.5(SPART):c.885dup (p.Pro296fs)Likely pathogenic

not provided

★☆☆☆2022→ Residue 296

NM_015087.5(SPART):c.894_898del (p.Met299fs)Pathogenic

Troyer syndrome

★☆☆☆2022→ Residue 299

NM_015087.5(SPART):c.553_554del (p.Val185fs)Pathogenic

not provided

★☆☆☆2022→ Residue 185

Tissue Expression6 tissues

Ovary

100%

Bone Marrow

63%

Heart

59%

Lung

53%

Brain

51%

Liver

22%

Gene Interaction Network6 neighbors

Click a node to explore

Structure2 PDB hits

Preparing viewer…

PDB4U7I · 1.79 Å · X-ray

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.76LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.58 [0.44–0.76]

Rankings3 dim

Where SPART stands among ~20K protein-coding genes

#3,438of 20,598
Most Researched135 · top quartile
#1,873of 5,529
Most Pathogenic Variants29
#6,063of 17,882
Most Constrained (LOEUF)0.76

Meta

Genes detectedSPART

Sources retrieved5 papers

Response time—

Sources5

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

PMID: 12134148

Nat Genet · 2002

0.95

Troyer syndrome: a combination of central brain abnormality and motor neuron disease?

PMID: 10463356

J Neurol · 1999

0.95

Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PMID: 9628581

DNA Res · 1998

0.95

Generation and analysis of 280,000 human expressed sequence tags.

PMID: 8889549

Genome Res · 1996

0.95

The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting.

PMID: 6022528

Arch Neurol · 1967

0.95

View all 135 papers on PubMed →

Loading gene record…

5 sources retrieved · Most recent: April 2026 · Index updated 5 months ago

135PubMed Papers

#3,439 · top 18% of 19K genes

21Diseases

top 12%

0Drugs

29Pathogenic Variants

top 34%

OMIM Disease GeneTransporterExperimental GO EvidenceSwiss-Prot Reviewed

regulation of mitochondrial membrane potentialprotein bindinglipid bindingubiquitin protein ligase bindingTroyer syndromeNeurodevelopmental delayhereditary diseaseGlobal developmental delay

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

spartin

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

Troyer syndromeOpen Targets

0.80Strong

Neurodevelopmental delayOpen Targets

0.45Moderate

hereditary diseaseOpen Targets

0.42Moderate

Global developmental delayOpen Targets

0.26Weak

cerebellar ataxiaOpen Targets

0.26Weak

StrabismusOpen Targets

0.26Weak

DysarthriaOpen Targets

0.26Weak

Failure to thriveOpen Targets

0.26Weak

microcephalyOpen Targets

0.26Weak

eye disorderOpen Targets

0.25Weak

retinal disorderOpen Targets

0.23Weak

retinoschisisOpen Targets

0.23Weak

hereditary spastic paraplegiaOpen Targets

0.19Weak

response to antihypertensive drugOpen Targets

0.17Weak

colonic neoplasmOpen Targets

0.08Suggestive

malignant colon neoplasmOpen Targets

0.07Suggestive

gastric cancerOpen Targets

0.07Suggestive

familial thoracic aortic aneurysm and aortic dissectionOpen Targets

0.06Suggestive

Rare genetic vascular diseaseOpen Targets

0.06Suggestive

Emery-Dreifuss muscular dystrophyOpen Targets

0.05Suggestive

Spastic paraplegia 20, autosomal recessiveUniProt

Pathogenic Variants29

NM_015087.5(SPART):c.364_365del (p.Met122fs)Pathogenic

Troyer syndrome|Inborn genetic diseases|not provided|Neurodevelopmental delay|Epilepsy

★★☆☆2026→ Residue 122

NM_015087.5(SPART):c.1369C>T (p.Arg457Ter)Pathogenic

not provided|Troyer syndrome|Neurodevelopmental delay|Epilepsy

★★☆☆2026→ Residue 457

NM_015087.5(SPART):c.696dup (p.Val233fs)Pathogenic

Troyer syndrome|not provided

★★☆☆2025→ Residue 233

NM_015087.5(SPART):c.685C>T (p.Gln229Ter)Pathogenic

not provided|Troyer syndrome

★★☆☆2025→ Residue 229

NM_015087.5(SPART):c.1474_1477del (p.Gln492fs)Pathogenic

Troyer syndrome|not provided

★★☆☆2024→ Residue 492

NM_015087.5(SPART):c.776del (p.Asp259fs)Pathogenic

not provided|SPART-related disorder

★★☆☆2024→ Residue 259

NM_015087.5(SPART):c.1110del (p.Lys370fs)Pathogenic

Troyer syndrome|not provided|SPART-related disorder

★★☆☆2023→ Residue 370

NM_015087.5(SPART):c.696del (p.Phe232fs)Pathogenic

not provided

★★☆☆2023→ Residue 232

NM_015087.5(SPART):c.1294del (p.Ser432fs)Pathogenic

not provided|Troyer syndrome

★★☆☆2022→ Residue 432

NM_015087.5(SPART):c.853_856del (p.Pro284_Val285insTer)Pathogenic

not provided

★☆☆☆2025→ Residue 284

NM_015087.5(SPART):c.1483+1G>ALikely pathogenic

not provided

★☆☆☆2025

NM_015087.5(SPART):c.1008+1G>CLikely pathogenic

not provided

★☆☆☆2025

NM_015087.5(SPART):c.844_847del (p.Arg282fs)Pathogenic

not provided

★☆☆☆2025→ Residue 282

NM_015087.5(SPART):c.1257G>A (p.Trp419Ter)Pathogenic

not provided

★☆☆☆2024→ Residue 419

NM_015087.5(SPART):c.253_254del (p.Leu85fs)Pathogenic

not provided

★☆☆☆2024→ Residue 85

NM_015087.5(SPART):c.1324G>C (p.Ala442Pro)Likely pathogenic

Troyer syndrome

★☆☆☆2024→ Residue 442

NM_015087.5(SPART):c.1738G>T (p.Gly580Ter)Likely pathogenic

Troyer syndrome

★☆☆☆2023→ Residue 580

NM_015087.5(SPART):c.885dup (p.Pro296fs)Likely pathogenic

not provided

★☆☆☆2022→ Residue 296

NM_015087.5(SPART):c.894_898del (p.Met299fs)Pathogenic

Troyer syndrome

★☆☆☆2022→ Residue 299

NM_015087.5(SPART):c.553_554del (p.Val185fs)Pathogenic

not provided

★☆☆☆2022→ Residue 185

Tissue Expression6 tissues

Ovary

100%

Bone Marrow

63%

Heart

59%

Lung

53%

Brain

51%

Liver

22%

Gene Interaction Network6 neighbors

Click a node to explore

Structure2 PDB hits

Preparing viewer…

PDB4U7I · 1.79 Å · X-ray

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.76LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.58 [0.44–0.76]

Rankings3 dim

Where SPART stands among ~20K protein-coding genes

#3,438of 20,598
Most Researched135 · top quartile
#1,873of 5,529
Most Pathogenic Variants29
#6,063of 17,882
Most Constrained (LOEUF)0.76