GLDN gliomedin [Homo sapiens (human)] - Gene

Summary

Official Symbol: GLDNprovided by HGNC
Official Full Name: gliomedinprovided by HGNC
Primary source: HGNC:HGNC:29514
See related: Ensembl:ENSG00000186417 MIM:608603; AllianceGenome:HGNC:29514
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CLOM; COLM; CRGL2; CRG-L2; LCCS11; UNC-112; UNC-122
Summary: This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 2017]
Expression: Biased expression in brain (RPKM 4.5), fat (RPKM 3.3) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (51341655..51413365)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (49149425..49221133)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (51633852..51700197)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.
Title: The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.
Our findings expand the genotypic and phenotypic spectrum of LCCS11 and demonstrate that the condition may not necessarily be lethal in the neonatal period.
Title: Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
data indicate that mutations of GLDN or CNTNAP1 (MIM: 616286), encoding essential components of the nodes of Ranvier and paranodes, respectively, lead to inherited nodopathies, a distinct disease entity among peripheral neuropathies
Title: Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
gliomedin, NF186, and contactin are novel target antigens in Guillain-Barre syndrome
Title: Nodal proteins are target antigens in Guillain-Barré syndrome.
Fibronectin type III-like domains of neurofascin-186 protein mediate gliomedin binding and its clustering at the developing nodes of Ranvier
Title: Fibronectin type III-like domains of neurofascin-186 protein mediate gliomedin binding and its clustering at the developing nodes of Ranvier.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Lethal congenital contracture syndrome 11 MedGen: C4310670 OMIM: 617194 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

General gene information

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Markers

RH44883 (e-PCR)
- UniSTS:67075

RH98759 (e-PCR)
- UniSTS:87563

WI-14763 (e-PCR)
- UniSTS:76586

A009F18 (e-PCR)
- UniSTS:27228

G32505 (e-PCR)
- UniSTS:117090

D15S1204 (e-PCR)
- UniSTS:38546

SHGC-145291 (e-PCR)
- UniSTS:174497

SHGC-84163 (e-PCR)
- UniSTS:104677

NoName (e-PCR)
- UniSTS:483574

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding involved in heterotypic cell-cell adhesion	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in clustering of voltage-gated sodium channels	IEA Inferred from Electronic Annotation more info
involved_in heterotypic cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in microvillus organization	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gliomedin

Names: collomin; colmedin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_054933.1 RefSeqGene

Range

5140..71485

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001330297.2 → NP_001317226.1 gliomedin isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in a different 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (2) may undergo proteolytic processing similar to isoform 1, but it has a shorter N-terminus and lacks a putative furin cleavage site compared to isoform 1.

Source sequence(s)

AC020891, BC113397, BX101284, BX538105

Consensus CDS

CCDS81882.1

UniProtKB/TrEMBL

Q14DE1

Related

ENSP00000379681.2, ENST00000396399.6
NM_181789.4 → NP_861454.2 gliomedin isoform 1 precursor

See identical proteins and their annotated locations for NP_861454.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1), which undergoes proteolytic processing to generate a secreted form of the protein.

Source sequence(s)

AC020891, BK001262, BX101284

Consensus CDS

CCDS10140.2

UniProtKB/Swiss-Prot

Q6UXZ7, Q6ZMI3, Q7Z359

Related

ENSP00000335196.6, ENST00000335449.11

Conserved Domains (2) summary

pfam01391
Location:160 → 217

Collagen; Collagen triple helix repeat (20 copies)

pfam02191
Location:304 → 542

OLF; Olfactomedin-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

51341655..51413365

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022125.1 → XP_016877614.1 gliomedin isoform X5
XM_017022121.2 → XP_016877610.1 gliomedin isoform X1
XM_017022126.3 → XP_016877615.1 gliomedin isoform X6
XM_017022124.3 → XP_016877613.1 gliomedin isoform X3

UniProtKB/TrEMBL

Q14DE1
XM_017022122.3 → XP_016877611.1 gliomedin isoform X3

UniProtKB/TrEMBL

Q14DE1
XM_011521501.3 → XP_011519803.1 gliomedin isoform X2

UniProtKB/TrEMBL

Q14DE1

Conserved Domains (2) summary

pfam01391
Location:40 → 97

Collagen; Collagen triple helix repeat (20 copies)

pfam02191
Location:184 → 422

OLF; Olfactomedin-like domain
XM_047432431.1 → XP_047288387.1 gliomedin isoform X3
XM_047432433.1 → XP_047288389.1 gliomedin isoform X4
XM_047432432.1 → XP_047288388.1 gliomedin isoform X4