SPG11 (SPG11 vesicle trafficking associated, spatacsin)

2014-08-01  

Identity

HGNC
SPG11
LOCATION
15q21.1
LOCUSID
80208
ALIAS
ALS5,CMT2X,KIAA1840
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80208
MIM: 610844
HGNC: 11226
Ensembl: ENSG00000104133

Variants:

dbSNP: 80208
ClinVar: 80208
TCGA: ENSG00000104133
COSMIC: SPG11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104133ENST00000261866Q96JI7
ENSG00000104133ENST00000427534C4B7M2
ENSG00000104133ENST00000535302Q96JI7
ENSG00000104133ENST00000557866A0A075B718
ENSG00000104133ENST00000558138H0YLR8
ENSG00000104133ENST00000558155H0YLK0
ENSG00000104133ENST00000558319Q96JI7
ENSG00000104133ENST00000558988H0YN96
ENSG00000104133ENST00000559193H0YN34
ENSG00000104133ENST00000559511H0YLK7
ENSG00000104133ENST00000559754H0YM73
ENSG00000104133ENST00000559822H0YKC1
ENSG00000104133ENST00000560435H0YK24
ENSG00000104133ENST00000560858H0YKY8

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
350746132022Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia, cross section hospital base study.0
356141642022"Ears of the lynx" sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers.1
364324902022Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia.3
350746132022Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia, cross section hospital base study.0
356141642022"Ears of the lynx" sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers.1
364324902022Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia.3
335817932021Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.5
340319222021Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11.6
341400362021Circ-SPG11 knockdown hampers IL-1β-induced osteoarthritis progression via targeting miR-337-3p/ADAMTS5.4
335817932021Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.5
340319222021Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11.6
341400362021Circ-SPG11 knockdown hampers IL-1β-induced osteoarthritis progression via targeting miR-337-3p/ADAMTS5.4
319001142020Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.2
320074962020Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found.5
320077542020A novel variant in the spatacsin gene causing SPG11 in a Malian family.3

Citation

Dessen P

SPG11 (SPG11 vesicle trafficking associated, spatacsin)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54663/img/haematological-explorer/tumors-explorer/