• Gene id: 342035

Gene Summary

• Gene Symbol: GLDN   Gene   UCSC   Ensembl
• Aliases: CLOM, COLM, CRG-L2, CRGL2, LCCS11, UNC-112, UNC-122
• Gene name: gliomedin
• Alternate names: gliomedin, collomin, colmedin,
• Gene location: 15q21.2 (51341654: 51413364)     Exons: 14     NC_000015.10
• Gene summary(Entrez): 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 th
• OMIM: 608603

Protein Summary

• Protein general information: Q6ZMI3  
  • Name: Gliomedin [Cleaved into: Gliomedin shedded ectodomain]
  • Length: 551  
  • Mass: 58957
  • Tissue specificity: Specifically expressed in spinal cord, brain, placenta and sciatic nerve. More abundant in peripheral than central nervous system. {ECO
• Sequence:

  MARGAEGGRGDAGWGLRGALAAVALLSALNAAGTVFALCQWRGLSSALRALEAQRGREQREDSALRSFLAELSRA
  PRGASAPPQDPASSARNKRSHSGEPAPHIRAESHDMLMMMTYSMVPIRVMVDLCNSTKGICLTGPSGPPGPPGAG
  GLPGHNGLDGQPGPQGPKGEKGANGKRGKMGIPGAAGNPGERGEKGDHGELGLQGNEGPPGQKGEKGDKGDVSND
  VLLAGAKGDQGPPGPPGPPGPPGPPGPPGSRRAKGPRQPSMFNGQCPGETCAIPNDDTLVGKADEKASEHHSPQA
  ESMITSIGNPVQVLKVTETFGTWIRESANKSDDRIWVTEHFSGIMVKEFKDQPSLLNGSYTFIHLPYYFHGCGHV
  VYNNSLYYHKGGSNTLVRFEFGQETSQTLKLENALYFDRKYLFANSKTYFNLAVDEKGLWIIYASSVDGSSILVA
  QLDERTFSVVQHVNTTYPKSKAGNAFIARGILYVTDTKDMRVTFAFDLLGGKQINANFDLRTSQSVLAMLAYNMR
  DQHLYSWEDGHLMLYPVQFLSTTLNQ

• Structural information:
  • Protein Domains: (137..19-)
    (/note="Collagen-like-1)
    (196..22-)
    (/note="Collagen-like-2)
    (299..54-)
    (/note="Olfactomedin-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00446"-)
  • Interpro: IPR008160  IPR031224  IPR003112  
  • Prosite: PS51132
  • PDB: 5YBY
  • PDBsum: 5YBY
  • STRING: ENSP00000335196
• Other Databases: GeneCards:  GLDN  Malacards:  GLDN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045162	clustering of voltage-gated sodium channels	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0032528	microvillus organization	IEA	biological process
GO:0045162	clustering of voltage-gated sodium channels	IEA	biological process
GO:0086080	protein binding involved in heterotypic cell-cell adhesion	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0034113	heterotypic cell-cell adhesion	IEA	biological process
GO:0009986	cell surface	IDA	cellular component

Diseases

Associated diseases	References
Lethal congenital contractural syndrome	KEGG:H00865
Lethal congenital contractural syndrome	KEGG:H00865
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq