CHRDL1 (chordin like 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91851
Gene name Gene Name - the full gene name approved by the HGNC.
Chordin like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHRDL1
Synonyms (NCBI Gene) Gene synonyms aliases
CHL, MGC1, MGCN, NRLN1, VOPT, dA141H5.1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq23
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants enc
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs387906713 C>A Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs387906714 G>A Pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs398122851 C>- Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs398122852 CT>- Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs587776868 A>C Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1045)
miRTarBase ID miRNA Experiments Reference
MIRT022205 hsa-miR-124-3p Microarray 18668037
MIRT613944 hsa-miR-3129-3p HITS-CLIP 23313552
MIRT613943 hsa-miR-5583-5p HITS-CLIP 23313552
MIRT608328 hsa-miR-140-3p HITS-CLIP 23313552
MIRT613942 hsa-miR-155-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0000578 Process Embryonic axis specification IEA
GO:0001503 Process Ossification IEA
GO:0001654 Process Eye development IMP 22284829
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300350 29861 ENSG00000101938
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BU40
Protein name Chordin-like protein 1 (Neuralin-1) (Neurogenesin-1) (Ventroptin)
Protein function Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in th
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00093 VWC 37 → 99 von Willebrand factor type C domain Family
PF00093 VWC 115 → 178 von Willebrand factor type C domain Family
PF00093 VWC 260 → 322 von Willebrand factor type C domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the developing cornea and in the eye anterior segment in addition to the retina. Differentially expressed in the fetal brain. There is high expression in cerebellum and neocortex. Expressed in retinal pericytes. {ECO:00002
Sequence 
MRKKWKMGGMKYIFSLLFFLLLEGGKTEQVKHSETYCMFQDKKYRVGERWHPYLEPYGLV
YCVNCICSENGNVLCSRVRCPNVHCLSPVHIPHLCCPRCPDSLPPVNNKVTSKSCEYNGT
TYQHGELFVAEGLFQNRQPNQCTQCSCSEGNVYCGLKTCPKLTCAFPVSVPDSCCRVCRG
DGELSWEHSDGDIFRQPANREARHSYHRSHYDPPPSRQAGGLSRFPGARSHRGALMDSQQ
ASGTIVQIVINNKHKHGQVCVSNGKTYSHGESWHPNLRAFGIVECVLCTCNVTKQECKKI
HCPNRYPCKYPQKIDGKCCKVCPGKKAKELPGQSFDNKGYFCGEETMPVYESVFMEDGET
TRKIALETERPPQVEVHVWTIRKGILQHFHIEKISKRMFEELPHFKLVTRTTLSQWKIFT
EGEAQISQMCSSRVCRTELEDLVKVLYLERSEKGHC
Sequence length 456
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Signaling by BMP
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA Megalocornea rs863225435, rs1057516043, rs398122851, rs387906713, rs587776868, rs398122852, rs387906714 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Gout Gout N/A N/A GWAS
Show/Hide Text Mining Associations (29)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35021154, 35205284
Adenoma Associate 34477243
Arcus Senilis Associate 22284829
Brain Diseases Associate 34644435
Breast Neoplasms Associate 26976638, 32775417
Carcinoma Pancreatic Ductal Associate 37533202
Carcinoma Squamous Cell Associate 35993054
Carcinoma Squamous Cell Inhibit 38188687
Cataract Associate 22284829
Corneal cerebellar syndrome Associate 22284829