CHRDL1 (chordin like 1)

2017-08-01  

Identity

HGNC
LOCATION
Xq23
LOCUSID
ALIAS
CHL,MGC1,MGCN,NRLN1,VOPT,dA141H5.1
FUSION GENES

Other Information

Locus ID:

NCBI: 91851
MIM: 300350
HGNC: 29861
Ensembl: ENSG00000101938

Variants:

dbSNP: 91851
ClinVar: 91851
TCGA: ENSG00000101938
COSMIC: CHRDL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101938ENST00000372042Q9BU40
ENSG00000101938ENST00000372045A0A452Q6Z9
ENSG00000101938ENST00000394797Q9BU40
ENSG00000101938ENST00000444321Q9BU40
ENSG00000101938ENST00000482160Q9BU40

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by BMPREACTOMER-HSA-201451

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
114411852001Ventroptin: a BMP-4 antagonist expressed in a double-gradient pattern in the retina.50
185874952008Chordin-like 1, a bone morphogenetic protein-4 antagonist, is upregulated by hypoxia in human retinal pericytes and plays a role in regulating angiogenesis.22
284235642017Hypermethylation of the CHRDL1 promoter induces proliferation and metastasis by activating Akt and Erk in gastric cancer.12
222848292012X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.10
269766382016Chordin-Like 1 Suppresses Bone Morphogenetic Protein 4-Induced Breast Cancer Cell Migration and Invasion.9
269558892016Identification of Human Juvenile Chondrocyte-Specific Factors that Stimulate Stem Cell Growth.8
250935882014Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.4
257121322015Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.4
240735972015X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8).2

Citation

Dessen P

CHRDL1 (chordin like 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56935/chrdl1