Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
342035
Gene name Gene Name - the full gene name approved by the HGNC.
Gliomedin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GLDN
Synonyms (NCBI Gene) Gene synonyms aliases
CLOM, COLM, CRG-L2, CRGL2, LCCS11, UNC-112, UNC-122
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LCCS11
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs141816048 A>G Likely-pathogenic Intron variant, splice acceptor variant
rs147954907 G>A Likely-pathogenic, uncertain-significance Missense variant, coding sequence variant
rs186935606 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, genic upstream transcript variant, 5 prime UTR variant
rs199538582 G>A,C,T Likely-pathogenic Coding sequence variant, missense variant, intron variant
rs368085516 C>A,G,T Pathogenic Missense variant, intron variant, synonymous variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025832 hsa-miR-7-5p Microarray 17612493
MIRT497645 hsa-miR-29a-3p PAR-CLIP 22291592
MIRT497644 hsa-miR-29b-3p PAR-CLIP 22291592
MIRT497643 hsa-miR-29c-3p PAR-CLIP 22291592
MIRT497642 hsa-miR-6871-3p PAR-CLIP 22291592
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005581 Component Collagen trimer IEA
GO:0005615 Component Extracellular space IEA
GO:0005886 Component Plasma membrane IEA
GO:0009986 Component Cell surface IDA 27616481
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608603 29514 ENSG00000186417
Protein
UniProt ID Q6ZMI3
Protein name Gliomedin [Cleaved into: Gliomedin shedded ectodomain]
Protein 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. Node
PDB 5YBY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 136 193 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 166 225 Collagen triple helix repeat (20 copies) Repeat
PF02191 OLF 304 544 Olfactomedin-like domain Family
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in spinal cord, brain, placenta and sciatic nerve. More abundant in peripheral than central nervous system. {ECO:0000269|PubMed:16039564}.
Sequence
MARGAEGGRGDAGWGLRGALAAVALLSALNAAGTVFALCQWRGLSSALRALEAQRGREQR
EDSALRSFLAELSRAPRGASAPPQDPASSARNKRSHSGEPAPHIRAESHDMLMMMTYSMV
PIRVMVDLCNSTKGICLTGPSGPPGPPGAGGLPGHNGLDGQPGPQGPKGEKGANGKRGKM
GIPGAAGNPGERG
EKGDHGELGLQGNEGPPGQKGEKGDKGDVSND
VLLAGAKGDQGPPGP
PGPPGPPGPPGPPGSRRAKGPRQPSMFNGQCPGETCAIPNDDTLVGKADEKASEHHSPQA
ESMITSIGNPVQVLKVTETFGTWIRESANKSDDRIWVTEHFSGIMVKEFKDQPSLLNGSY
TFIHLPYYFHGCGHVVYNNSLYYHKGGSNTLVRFEFGQETSQTLKLENALYFDRKYLFAN
SKTYFNLAVDEKGLWIIYASSVDGSSILVAQLDERTFSVVQHVNTTYPKSKAGNAFIARG
ILYVTDTKDMRVTFAFDLLGGKQINANFDLRTSQSVLAMLAYNMRDQHLYSWEDGHLMLY
PVQF
LSTTLNQ
Sequence length 551
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
31680123
Lethal congenital contracture syndrome LETHAL CONGENITAL CONTRACTURE SYNDROME 11 rs121908315, rs386833693, rs121434407, rs1565859132, rs786204798, rs786204799, rs786204800, rs749355583, rs793888524, rs793888525, rs751050956, rs1555642784, rs746361190, rs886041056, rs764239923
View all (10 more)
27616481
Unknown
Disease term Disease name Evidence References Source
Congenital contracture Congenital contracture ClinVar
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Alcoholism Associate 24890784
Arthrogryposis Associate 27616481, 33820833
Bone Diseases Developmental Associate 33820833
Breast Neoplasms Associate 24324964
Carcinoma Hepatocellular Associate 32644941
Colorectal Neoplasms Associate 32323816
Endometrial Neoplasms Associate 17827443, 22320986
Fetal akinesia syndrome X linked Associate 32779773
Genetic Diseases Inborn Associate 27616481
Hypertension Associate 32407592