GLDN (gliomedin)

2003-10-01  

Identity

HGNC
LOCATION
15q21.2
LOCUSID
ALIAS
CLOM,COLM,CRG-L2,CRGL2,LCCS11,UNC-112,UNC-122
FUSION GENES

Other Information

Locus ID:

NCBI: 342035
MIM: 608603
HGNC: 29514
Ensembl: ENSG00000186417

Variants:

dbSNP: 342035
ClinVar: 342035
TCGA: ENSG00000186417
COSMIC: GLDN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186417ENST00000335449Q6ZMI3
ENSG00000186417ENST00000396399Q6ZMI3
ENSG00000186417ENST00000558426H0YM22
ENSG00000186417ENST00000560215A0A087X220
ENSG00000186417ENST00000612989Q6ZMI3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
224626672012Nodal proteins are target antigens in Guillain-Barré syndrome.41
220097402011Fibronectin type III-like domains of neurofascin-186 protein mediate gliomedin binding and its clustering at the developing nodes of Ranvier.20
276164812016Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.0
287262662017Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).0

Citation

Dessen P

GLDN (gliomedin)

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/gene/40147/gldn