CHRDL1 (chordin like 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 91851
Gene name Chordin like 1
Gene symbol CHRDL1
Synonyms (NCBI Gene)
CHLMGC1MGCNNRLN1VOPTdA141H5.1
Chromosome X
Chromosome location Xq23
Summary 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.
8
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.
1045
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300350 29861 ENSG00000101938
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Isolated congenital megalocornea Pathogenic; Likely pathogenic rs2148509595, rs2148418732 RCV001728087
RCV002272816
Megalocornea Pathogenic; Likely pathogenic rs2148409748, rs2148418538, rs2090111362, rs2148409694, rs2148465558, rs2148463846, rs775515705, rs863225435, rs1057516043, rs398122851, rs387906713, rs587776868, rs398122852, rs387906714 RCV001376072
RCV001391101
RCV001391102
RCV001391103
RCV001391104
RCV001391106
RCV001391109
RCV000202388
RCV000408611
RCV000022849
RCV000022850
RCV000022851
RCV000022852
RCV000022853
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CHRDL1-related disorder Uncertain significance; Benign; Likely benign rs2070950130, rs1602437713, rs12688415, rs751250304, rs147128392 RCV003400469
RCV003399967
RCV003905991
RCV003942841
RCV003942956
Colon adenocarcinoma Conflicting classifications of pathogenicity rs189640632 RCV005902942
Familial cancer of breast Conflicting classifications of pathogenicity rs189640632 RCV005902941
Show/Hide Text Mining Associations (29)
Associations from Text MiningDisease 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