ALS2 (alsin Rho guanine nucleotide exchange factor ALS2)

2006-10-01  

Identity

HGNC
ALS2
LOCATION
2q33.1
LOCUSID
57679
ALIAS
ALS2CR6,ALSJ,IAHSP,PLSJ
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57679
MIM: 606352
HGNC: 443
Ensembl: ENSG00000003393

Variants:

dbSNP: 57679
ClinVar: 57679
TCGA: ENSG00000003393
COSMIC: ALS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000003393ENST00000264276Q96Q42
ENSG00000003393ENST00000409632J3KQ33
ENSG00000003393ENST00000410052J3KQ43
ENSG00000003393ENST00000439495H0Y696

Expression (GTEx)

0
50
100
150
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

Pathways

PathwaySourceExternal ID
Amyotrophic lateral sclerosis (ALS)KEGGko05014
Amyotrophic lateral sclerosis (ALS)KEGGhsa05014
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

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
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
331553582021Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.9
334098232021ALS2-related disorders in Spanish children.1
342430652021The N-terminal intrinsically disordered region mediates intracellular localization and self-oligomerization of ALS2.3
331553582021Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.9
334098232021ALS2-related disorders in Spanish children.1
342430652021The N-terminal intrinsically disordered region mediates intracellular localization and self-oligomerization of ALS2.3
319594742020ALS2, the small GTPase Rab17-interacting protein, regulates maturation and sorting of Rab17-associated endosomes.2
319594742020ALS2, the small GTPase Rab17-interacting protein, regulates maturation and sorting of Rab17-associated endosomes.2
294698082018Rab5 and Alsin regulate stress-activated cytoprotective signaling on mitochondria.42
301286552018Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.9
302243572018Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.17
294698082018Rab5 and Alsin regulate stress-activated cytoprotective signaling on mitochondria.42
301286552018Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.9
302243572018Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.17
285021912017A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis.3

Citation

Dessen P

ALS2 (alsin Rho guanine nucleotide exchange factor ALS2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43115/als2-(alsin-rho-guanine-nucleotide-exchange-factor-als2)