ALS2CL (ALS2 C-terminal like)

2011-03-01  

Identity

HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
RN49018
FUSION GENES

Other Information

Locus ID:

NCBI: 259173
MIM: 612402
HGNC: 20605
Ensembl: ENSG00000178038

Variants:

dbSNP: 259173
ClinVar: 259173
TCGA: ENSG00000178038
COSMIC: ALS2CL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178038ENST00000318962Q60I27
ENSG00000178038ENST00000318962A0A024R2U1
ENSG00000178038ENST00000415953Q60I27
ENSG00000178038ENST00000415953A0A024R2U1
ENSG00000178038ENST00000423707H7C0M4
ENSG00000178038ENST00000434140G5E9N5

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
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

References

Pubmed IDYearTitleCitations
234253352013Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.9
234253352013Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.9
206571802010Multiple tumor-suppressor genes on chromosome 3p contribute to head and neck squamous cell carcinoma tumorigenesis.13
206571802010Multiple tumor-suppressor genes on chromosome 3p contribute to head and neck squamous cell carcinoma tumorigenesis.13
172398222007ALS2CL, a novel ALS2-interactor, modulates ALS2-mediated endosome dynamics.14
172398222007ALS2CL, a novel ALS2-interactor, modulates ALS2-mediated endosome dynamics.14
153883342004ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics.18
153883342004ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics.18

Citation

Dessen P

ALS2CL (ALS2 C-terminal like)

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/gene/52127/js/lib/css/welcome