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Aliases for GLDN Gene

Aliases for GLDN Gene

  • Gliomedin 2 3 3 5
  • Collomin 2 3
  • COLM 3 4
  • Colmedin 3
  • UNC-112 3
  • CRG-L2 3
  • LCCS11 3
  • CRGL2 3
  • CLOM 3

External Ids for GLDN Gene

Previous HGNC Symbols for GLDN Gene

  • COLM

Previous GeneCards Identifiers for GLDN Gene

  • GC15P049422
  • GC15P051633
  • GC15P028463

Summaries for GLDN Gene

GeneCards Summary for GLDN Gene

GLDN (Gliomedin) is a Protein Coding gene. GO annotations related to this gene include protein binding involved in heterotypic cell-cell adhesion. An important paralog of this gene is OLFM1.

UniProtKB/Swiss-Prot for GLDN Gene

  • Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Mediates interaction between Schwann cell microvilli and axons via its interactions with NRCAM and NFASC. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with NRCAM, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLDN Gene

Genomics for GLDN Gene

Regulatory Elements for GLDN Gene

Enhancers for GLDN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F051317 1.1 Ensembl ENCODE 27.9 -22.7 -22731 2.5 ATF1 MLX THRB ZNF48 RAD21 RARA CREM MIXL1 THAP11 HMG20B GLDN GNB5 ENSG00000259306 CYP19A1
GH15F051332 1 Ensembl ENCODE 27.9 -7.4 -7415 3.8 PKNOX1 JUN MAX BMI1 ZFHX2 GATA3 ZNF766 CBX5 CREM EGR2 GLDN ENSG00000259668 GNB5 CYP19A1 ENSG00000259306
GH15F051340 0.8 ENCODE 27.3 -0.2 -173 2.0 CTCF KLF1 SIN3A ZIC2 E2F1 ZFHX2 GATA2 PATZ1 PRDM10 KLF8 GLDN GNB5 CYP19A1
GH15F051311 1.3 Ensembl ENCODE 15.4 -29.1 -29066 2.2 HDGF PKNOX1 ATF1 CREB3L1 DMAP1 SLC30A9 FOS SP5 NCOA1 MIER2 AP4E1 GLDN CYP19A1 TRPM7 USP8 GC15P051325 PIR34141 MIR7973-1
GH15F051314 1.2 FANTOM5 ENCODE 16.1 -25.9 -25882 3.0 ELF3 MLX ARID4B DMAP1 ZNF48 ZSCAN9 RAD21 RARA GATA4 CREM CYP19A1 GLDN GNB5 AP4E1 ENSG00000259306 MIR7973-2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GLDN on UCSC Golden Path with GeneCards custom track

Promoters for GLDN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001794993 284 801 CTCF KLF1 SUZ12 SIN3A ZIC2 E2F1 ZFHX2 GATA2 PRDM10 KLF8

Genomic Location for GLDN Gene

Chromosome:
15
Start:
51,341,516 bp from pter
End:
51,408,013 bp from pter
Size:
66,498 bases
Orientation:
Plus strand

Genomic View for GLDN Gene

Genes around GLDN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLDN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLDN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLDN Gene

Proteins for GLDN Gene

  • Protein details for GLDN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZMI3-GLDN_HUMAN
    Recommended name:
    Gliomedin
    Protein Accession:
    Q6ZMI3
    Secondary Accessions:
    • Q6UXZ7
    • Q7Z359

    Protein attributes for GLDN Gene

    Size:
    551 amino acids
    Molecular mass:
    58957 Da
    Quaternary structure:
    • Homotrimer (via collagen-like domains). Interacts with NRCAM and NFACS/neurofascin. Interaction with glial NRCAM enhances interaction with axonal NFACS. Interacts with MYOC.

    Alternative splice isoforms for GLDN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLDN Gene

Post-translational modifications for GLDN Gene

  • N-glycosylated.
  • Proteolytic proccessing by a furin-like protease causes shedding of the ectodomain. Further cleavage by BMP1 releases the olfactomedin-like domain.
  • Glycosylation at Asn 130, Asn 329, Asn 357, Asn 378, and Asn 464
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GLDN Gene

Domains & Families for GLDN Gene

Suggested Antigen Peptide Sequences for GLDN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZMI3

UniProtKB/Swiss-Prot:

GLDN_HUMAN :
  • The olfactomedin-like domain mediates NFASC/neurofascin and NRCAM binding.
Domain:
  • The olfactomedin-like domain mediates NFASC/neurofascin and NRCAM binding.
  • Contains 2 collagen-like domains.
  • Contains 1 olfactomedin-like domain.
genes like me logo Genes that share domains with GLDN: view

No data available for Gene Families for GLDN Gene

Function for GLDN Gene

Molecular function for GLDN Gene

UniProtKB/Swiss-Prot Function:
Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Mediates interaction between Schwann cell microvilli and axons via its interactions with NRCAM and NFASC. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with NRCAM, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier.

Gene Ontology (GO) - Molecular Function for GLDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0086080 protein binding involved in heterotypic cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with GLDN: view
genes like me logo Genes that share phenotypes with GLDN: view

Animal Models for GLDN Gene

MGI Knock Outs for GLDN:

Animal Model Products

  • Taconic Biosciences Mouse Models for GLDN

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GLDN Gene

Localization for GLDN Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLDN Gene

Cell membrane; Single-pass type II membrane protein. Note=Detected at the nodes of Ranvier. Detected at immature heminodes. {ECO:0000250 UniProtKB:Q80WL1}.
Gliomedin shedded ectodomain: Secreted. Secreted, extracellular space, extracellular matrix. Note=Proteolytic processing gives rise to a soluble extracellular domain that is secreted. The gliomedin shedded ectodomain localizes to the nodes of Ranvier. {ECO:0000250 UniProtKB:Q80WL1}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLDN gene
Compartment Confidence
plasma membrane 4
extracellular 4
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GLDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GLDN: view

Pathways & Interactions for GLDN Gene

No Data Available

Interacting Proteins for GLDN Gene

Selected Interacting proteins: Q6ZMI3-GLDN_HUMAN for GLDN Gene via IID

Gene Ontology (GO) - Biological Process for GLDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0030154 cell differentiation IEA --
GO:0032528 microvillus organization IEA --
GO:0034113 heterotypic cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with GLDN: view

No data available for Pathways by source and SIGNOR curated interactions for GLDN Gene

Transcripts for GLDN Gene

Unigene Clusters for GLDN Gene

Gliomedin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLDN Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2: -
SP3: - - -
SP4: - -
SP5:

Relevant External Links for GLDN Gene

GeneLoc Exon Structure for
GLDN
ECgene alternative splicing isoforms for
GLDN

Expression for GLDN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLDN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLDN Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.4), Brain - Substantia nigra (x4.8), and Nerve - Tibial (x4.3).

Protein differential expression in normal tissues from HIPED for GLDN Gene

This gene is overexpressed in Serum (64.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GLDN Gene



Protein tissue co-expression partners for GLDN Gene

NURSA nuclear receptor signaling pathways regulating expression of GLDN Gene:

GLDN

SOURCE GeneReport for Unigene cluster for GLDN Gene:

Hs.526441

mRNA Expression by UniProt/SwissProt for GLDN Gene:

Q6ZMI3-GLDN_HUMAN
Tissue specificity: Specifically expressed in spinal cord, brain, placenta and sciatic nerve. More abundant in peripheral than central nervous system.
genes like me logo Genes that share expression patterns with GLDN: view

Primer Products

Orthologs for GLDN Gene

This gene was present in the common ancestor of animals.

Orthologs for GLDN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLDN 34 35
  • 99.27 (n)
cow
(Bos Taurus)
Mammalia GLDN 34 35
  • 88.35 (n)
dog
(Canis familiaris)
Mammalia GLDN 34 35
  • 88.11 (n)
mouse
(Mus musculus)
Mammalia Gldn 34 16 35
  • 85.95 (n)
rat
(Rattus norvegicus)
Mammalia Gldn 34
  • 83.88 (n)
oppossum
(Monodelphis domestica)
Mammalia GLDN 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLDN 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLDN 34 35
  • 66.73 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 53 (a)
OneToMany
-- 35
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gldn 34
  • 62.21 (n)
zebrafish
(Danio rerio)
Actinopterygii gldn 34
  • 53.18 (n)
colm 35
  • 42 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6867 35
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-122 35
  • 21 (a)
ManyToMany
cof-2 35
  • 20 (a)
ManyToMany
Species where no ortholog for GLDN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLDN Gene

ENSEMBL:
Gene Tree for GLDN (if available)
TreeFam:
Gene Tree for GLDN (if available)

Paralogs for GLDN Gene

Paralogs for GLDN Gene

(10) SIMAP similar genes for GLDN Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with GLDN: view

Variants for GLDN Gene

Sequence variations from dbSNP and Humsavar for GLDN Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1001864 -- 51,379,887(+) ttttg(C/G)tgtga intron-variant
rs10162847 -- 51,383,304(+) TATAA(C/T)GAGTT intron-variant
rs10162956 -- 51,380,928(+) CATGA(C/T)CACCT intron-variant
rs10163098 -- 51,381,433(+) AAGTC(A/G)TGGAG intron-variant
rs10468003 -- 51,395,077(+) CTCCT(C/T)TATGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GLDN Gene

Variant ID Type Subtype PubMed ID
dgv4526n54 CNV gain 21841781
esv2760031 CNV gain 17122850
esv34532 CNV gain 17911159
esv3636461 CNV gain 21293372
nsv1047443 CNV gain 25217958
nsv471243 CNV gain 18288195
nsv977716 CNV duplication 23825009
nsv94788 CNV insertion 16902084

Variation tolerance for GLDN Gene

Residual Variation Intolerance Score: 84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.11; 90.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLDN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLDN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLDN Gene

Disorders for GLDN Gene

Relevant External Links for GLDN

Genetic Association Database (GAD)
GLDN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLDN

No disorders were found for GLDN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GLDN Gene

Publications for GLDN Gene

  1. Gliomedin mediates Schwann cell-axon interaction and the molecular assembly of the nodes of Ranvier. (PMID: 16039564) Eshed Y. … Peles E. (Neuron 2005) 2 3 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  4. Identification and characterization of CRG-L2, a new marker for liver tumor development. (PMID: 12642876) Graveel C.R. … Farnham P.J. (Oncogene 2003) 2 3 64
  5. Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men. (PMID: 24049095) Chen Z. … Sun J. (J. Med. Genet. 2013) 3 64

Products for GLDN Gene

Sources for GLDN Gene

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