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FLASH GENE

Symbol

GLDN

contributors: mct - updated : 23-11-2016

HGNC name	gliomedin
HGNC id	29514

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LCCS11 lethal congenital contracture syndrome 11
Location	15q21.2      Physical location : 51.633.712 - 51.700.207
Synonym name	collomin
	colmedin
Synonym symbol(s)	COLM, CRG-L2, CLOM, UNC-112, CRGL2

DNA

TYPE	functioning gene
STRUCTURE	71.85 kb     10 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_181789 10 - 5084 NP_861454 - 551 - 2005 16039564 NM_001330297 - - 4604 NP_001317226 - 427 - 2005 16039564

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune spleen         Nervous brain         Reproductive female system placenta       Respiratory respiratory tract larynx

cells

System Cell Pubmed Species Stage Rna symbol Nervous Schwann cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

an olfactomedin (OLF) domain located at the extracellular C-terminus, involved in the accumulation of neuronal plasma membrane voltage-gated sodium channels in the nodes by interacting with NFASC and NRCAM

HOMOLOGY

interspecies	homolog to murine Gldn (88.2pc)
	homolog to rattus Gldn (86.6pc)

Homologene

FAMILY

CATEGORY

adhesion , signaling

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	providing a glial cue for the formation of peripheral nodes of Ranvier
	is one of the essential proteins in the development of the nodes of Ranvier in the vertebrate peripheral nervous system
	secreted cell adhesion molecule involved in the formation of the nodes of Ranvier
	major role of gliomedin in node formation and the development of the peripheral nervous system

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	initial clustering of Na(+) channels at heminodes requires glial NRCAM and GLDN, as well as their axonal receptor neurofascin 186 (NFASC186)
	in the peripheral nervous system (PNS), the axoglial contact mediated by the binding of glial GLDN and NRCAM to axonal NFASC186 is crucial for the initial clustering of voltage-gated Na+ channels at the nodes of Ranvier
	axoglial contact between GLDN and NFASC186 is essential for the initial clustering of Na+ channels at developing nodes

cell & other

interacting with neurofascin and NrCAM, two axonal immunoglobulin cell adhesion molecules

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LCCS11

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         upregulated in hepatocytes throughout the tumor and in preneoplastic foci

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS