ENSG00000186417


Homo sapiens

Features
Gene ID: ENSG00000186417
  
Biological name :GLDN
  
Synonyms : GLDN / gliomedin / Q6ZMI3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q21.2
Gene start: 51341629
Gene end: 51408013
  
Corresponding Affymetrix probe sets: 230360_at (Human Genome U133 Plus 2.0 Array)   232649_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000335196
Ensembl peptide - ENSP00000453433
Ensembl peptide - ENSP00000479249
Ensembl peptide - ENSP00000484633
Ensembl peptide - ENSP00000379681
NCBI entrez gene - 342035     See in Manteia.
OMIM - 608603
RefSeq - XM_017022126
RefSeq - XM_017022121
RefSeq - XM_017022122
RefSeq - XM_017022123
RefSeq - XM_017022124
RefSeq - XM_017022125
RefSeq - NM_001330297
RefSeq - NM_181789
RefSeq - XM_011521501
RefSeq Peptide - NP_001317226
RefSeq Peptide - NP_861454
swissprot - H0YM22
swissprot - Q6ZMI3
swissprot - A0A087X220
Ensembl - ENSG00000186417
  
Related genetic diseases (OMIM): 617194 - Lethal congenital contracture syndrome 11, 617194
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gldnENSDARG00000061576Danio rerio
 GLDNENSGALG00000013293Gallus gallus
 GldnENSMUSG00000046167Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q68BL8 / OLFML2B / olfactomedin like 2BENSG0000016274520
Q68BL7 / OLFML2A / olfactomedin like 2AENSG0000018558518
OLFM1 / Q99784 / olfactomedin 1ENSG0000013055817
OLFM4 / Q6UX06 / olfactomedin 4ENSG0000010283717
OLFM2 / O95897 / olfactomedin 2ENSG0000010508816
OLFML3 / Q9NRN5 / olfactomedin like 3ENSG0000011677415
OLFM3 / Q96PB7 / olfactomedin 3ENSG0000011873315
MYOC / Q99972 / myocilinENSG0000003497114
OLFML1 / Q6UWY5 / olfactomedin like 1ENSG0000018380113


Protein motifs (from Interpro)
Interpro ID Name
 IPR003112  Olfactomedin-like domain
 IPR008160  Collagen triple helix repeat
 IPR016133  Insect cysteine-rich antifreeze protein
 IPR031224  Gliomedin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0032528 microvillus organization IEA
 biological_processGO:0034113 heterotypic cell-cell adhesion IEA
 biological_processGO:0045162 clustering of voltage-gated sodium channels IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0086080 protein binding involved in heterotypic cell-cell adhesion IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000278 Retrognathia 
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 HP:0001558 Decreased fetal movement "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators]
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 HP:0002089 Pulmonary hypoplasia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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