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GLDN gliomedin [ Homo sapiens (human) ]

Gene ID: 342035, updated on 13-Mar-2020

Summary

Official Symbol
GLDNprovided by HGNC
Official Full Name
gliomedinprovided by HGNC
Primary source
HGNC:HGNC:29514
See related
Ensembl:ENSG00000186417 MIM:608603
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

Genomic context

See GLDN in Genome Data Viewer
Location:
15q21.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (51341655..51413365)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (51633713..51700210)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 19 subfamily A member 1 Neighboring gene uncharacterized LOC112268146 Neighboring gene CYP19A1 promoter I.1 Neighboring gene Dmx like 2 Neighboring gene uncharacterized LOC105370816 Neighboring gene CRISPRi-validated cis-regulatory element chr15.1149

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Clone Names

  • FLJ23917

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding involved in heterotypic cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
clustering of voltage-gated sodium channels IEA
Inferred from Electronic Annotation
more info
 
heterotypic cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
microvillus organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
gliomedin
Names
collomin
colmedin

NCBI Reference Sequences (RefSeq)

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

  1. NG_054933.1 RefSeqGene

    Range
    5140..71485
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330297.1NP_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/Swiss-Prot
    Q6ZMI3
    UniProtKB/TrEMBL
    Q14DE1
    Related
    ENSP00000379681.2, ENST00000396399.6
  2. NM_181789.4NP_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
    Q6ZMI3
    Related
    ENSP00000335196.6, ENST00000335449.11
    Conserved Domains (2) summary
    pfam01391
    Location:160217
    Collagen; Collagen triple helix repeat (20 copies)
    pfam02191
    Location:304542
    OLF; Olfactomedin-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    51341655..51413365
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022125.1XP_016877614.1  gliomedin isoform X4

  2. XM_017022121.1XP_016877610.1  gliomedin isoform X1

  3. XM_017022126.2XP_016877615.1  gliomedin isoform X5

  4. XM_017022124.2XP_016877613.1  gliomedin isoform X3

    UniProtKB/Swiss-Prot
    Q6ZMI3
  5. XM_017022122.2XP_016877611.1  gliomedin isoform X3

    UniProtKB/Swiss-Prot
    Q6ZMI3
  6. XM_011521501.2XP_011519803.1  gliomedin isoform X2

    Conserved Domains (2) summary
    pfam01391
    Location:4097
    Collagen; Collagen triple helix repeat (20 copies)
    pfam02191
    Location:184422
    OLF; Olfactomedin-like domain
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