Aliases for CHRDL1 Gene
Aliases for CHRDL1 Gene
External Ids for CHRDL1 Gene
- HGNC: 29861
- Entrez Gene: 91851
- Ensembl: ENSG00000101938
- OMIM: 300350
- UniProtKB: Q9BU40
Previous HGNC Symbols for CHRDL1 Gene
- MGC1
Previous GeneCards Identifiers for CHRDL1 Gene
- GC0XM108682
- GC0XM109724
- GC0XM109917
- GC0XM099536
Summaries for CHRDL1 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 encoding different isoforms have been described. [provided by RefSeq, Jan 2009]
GeneCards Summary for CHRDL1 Gene
CHRDL1 (Chordin Like 1) is a Protein Coding gene. Diseases associated with CHRDL1 include Megalocornea 1, X-Linked and Megalocornea. Among its related pathways are Signaling by GPCR and Signaling by BMP. An important paralog of this gene is CHRDL2.
UniProtKB/Swiss-Prot for CHRDL1 Gene
-
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 the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation (By similarity). May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior segment eye development.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRDL1 Gene
Genomics for CHRDL1 Gene
Regulatory Elements for CHRDL1 Gene
Enhancers for CHRDL1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH0XG110531 | 0.8 | ENCODE | 17.8 | +263.9 | 263909 | 1.7 | RARA TCF12 ZNF207 ETV6 FOS RELB CREM IKZF2 JUNB CEBPB | RTL9 CHRDL1 TDGF1P3 LOC100131200 |
| GH0XG110667 | 0.6 | ENCODE | 18.2 | +128.1 | 128066 | 1.3 | CTCF ZNF654 TEAD4 MAX ZNF384 REST RAD21 IKZF1 SMC3 | CHRDL1 GC0XP110658 |
| GH0XG110509 | 0.4 | ENCODE | 15.1 | +286.3 | 286292 | 1.3 | TEAD4 CHD7 | CHRDL1 TDGF1P3 AMMECR1 |
| GH0XG110744 | 0.5 | ENCODE | 6.6 | +52.0 | 51971 | 0.2 | ZFHX2 BHLHE40 EGR2 | CHRDL1 GC0XP110658 |
| GH0XG111282 | 0.2 | ENCODE | 4.2 | -487.1 | -487050 | 2.2 | CHRDL1 CAPN6 GC0XP111369 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CHRDL1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CHRDL1 gene promoter:
Regulatory Element Products
Genomic Location for CHRDL1 Gene
- Chromosome:
- X
- Start:
- 110,673,856 bp from pter
- End:
- 110,796,058 bp from pter
- Size:
- 122,203 bases
- Orientation:
- Minus strand
Genomic View for CHRDL1 Gene
Genes around CHRDL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq23 by Ensembl
- Xq23 by Entrez Gene
- Xq23 by HGNC
CHRDL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CHRDL1 Gene
Proteins for CHRDL1 Gene
-
Protein details for CHRDL1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BU40-CRDL1_HUMAN
- Recommended name:
- Chordin-like protein 1
- Protein Accession:
- Q9BU40
- B1AKD0
- B4DMP3
- D3DUY6
- E9PGS5
- Q539E4
- Q9Y3H7
Protein attributes for CHRDL1 Gene
- Size:
- 450 amino acids
- Molecular mass:
- 51168 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAH02909.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAU25841.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAF85795.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for CHRDL1 Gene
Post-translational modifications for CHRDL1 Gene
Other Protein References for CHRDL1 Gene
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for CHRDL1
- R&D Systems Antibodies for CHRDL1 (Chordin-like 1/CHRDL1)
-
Custom Antibody ServicesOriGene Antibodies for CHRDL1
- Novus Biologicals Antibodies for CHRDL1
-
Abcam antibodies for CHRDL1
-
Cloud-Clone Corp. Antibodies for CHRDL1
- Invitrogen Antibodies for CHRDL1
- antibodies-online Antibodies for CHRDL1: See all 53
- GeneTex CHRDL1 antibody for CHRDL1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CHRDL1
Protein Products
- R&D Systems Proteins and Enzymes for CHRDL1 (Chordin-like 1/CHRDL1)
-
OriGene Purified Proteins for CHRDL1
- Search Origene for MassSpec and Protein Over-expression Lysates for CHRDL1
- Origene Custom Protein Services for CHRDL1
- Sino Biological Recombinant Proteins for CHRDL1
- Browse Sino Biological Cell Lysates
-
Cloud-Clone Corp. Proteins for CHRDL1
- antibodies-online Proteins for CHRDL1: See all 7
- Search antibodies-online for peptides
- Search GeneTex for Proteins for CHRDL1
-
Abcam proteins for CHRDL1
No data available for DME Specific Peptides for CHRDL1 Gene
Domains & Families for CHRDL1 Gene
Protein Domains for CHRDL1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CHRDL1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and UniProtKB/Swiss-Prot for CHRDL1 Gene
Function for CHRDL1 Gene
Molecular function for CHRDL1 Gene
- UniProtKB/Swiss-Prot 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 the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation (By similarity). May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior segment eye development.
- UniProtKB/Swiss-Prot Induction:
- By hypoxia in retinal pericytes.
Phenotypes for CHRDL1 Gene
- GenomeRNAi human phenotypes for CHRDL1:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Dynamic nuclei (hole, folded or small irregular)
- Increased transferrin (TF) endocytosis
- Decreased POU5F1-GFP protein expression
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Effect on mitosis
Animal Model Products
-
Taconic Biosciences Mouse Models for CHRDL1
- Cyagen custom Knockout/knockin (KOKI) mouse models for CHRDL1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CHRDL1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CHRDL1 gene
- Search ViGene Biosciences for CHRDL1
CRISPR Products
-
OriGene CRISPR knockouts for CHRDL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHRDL1
- GenScript: Design CRISPR guide RNA sequences for CHRDL1
miRNA for CHRDL1 Gene
- miRTarBase miRNAs that target CHRDL1
-
- hsa-mir-124-3p (MIRT022205)
- hsa-mir-6883-5p (MIRT483329)
- hsa-mir-6785-5p (MIRT483330)
- hsa-mir-4728-5p (MIRT483331)
- hsa-mir-149-3p (MIRT483332)
- hsa-mir-8085 (MIRT483333)
- hsa-mir-6731-5p (MIRT483334)
- hsa-mir-6797-5p (MIRT483335)
- hsa-mir-1249-5p (MIRT483336)
- hsa-mir-4644 (MIRT483337)
- hsa-mir-4306 (MIRT483338)
- hsa-mir-185-5p (MIRT483339)
- hsa-mir-6133 (MIRT483340)
- hsa-mir-6130 (MIRT483341)
- hsa-mir-6129 (MIRT483342)
- hsa-mir-6127 (MIRT483343)
- hsa-mir-4510 (MIRT483344)
- hsa-mir-4419a (MIRT483345)
- hsa-mir-4739 (MIRT483346)
- hsa-mir-4756-5p (MIRT483347)
- hsa-mir-1321 (MIRT483348)
- hsa-mir-6760-5p (MIRT483349)
- hsa-mir-6873-5p (MIRT483350)
- hsa-mir-6856-5p (MIRT483351)
- hsa-mir-6758-5p (MIRT483353)
- hsa-mir-6770-5p (MIRT499210)
- hsa-mir-4679 (MIRT499211)
- hsa-mir-4677-3p (MIRT499212)
- hsa-mir-4779 (MIRT499213)
- hsa-mir-6891-5p (MIRT499214)
- hsa-mir-3173-3p (MIRT499215)
- hsa-mir-140-3p (MIRT608328)
- hsa-mir-8485 (MIRT608330)
- hsa-mir-155-5p (MIRT613942)
- hsa-mir-5583-5p (MIRT613943)
- hsa-mir-3129-3p (MIRT613944)
- hsa-mir-1251-3p (MIRT615583)
- hsa-mir-5006-3p (MIRT640837)
- hsa-mir-4755-5p (MIRT640838)
- hsa-mir-211-5p (MIRT640839)
- hsa-mir-204-5p (MIRT640840)
- hsa-mir-623 (MIRT640841)
- hsa-mir-1252-5p (MIRT640842)
- hsa-mir-3185 (MIRT640843)
- hsa-mir-6832-3p (MIRT640844)
- hsa-mir-651-3p (MIRT640845)
- hsa-mir-583 (MIRT640846)
- hsa-mir-1276 (MIRT640847)
- hsa-mir-4311 (MIRT640848)
- hsa-mir-5582-3p (MIRT640849)
- hsa-mir-1253 (MIRT659522)
- hsa-mir-574-5p (MIRT659523)
- hsa-mir-6867-5p (MIRT659524)
- hsa-mir-4711-3p (MIRT659525)
miRNA Products
- Search ViGene Biosciences for CHRDL1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CHRDL1
- Browse OriGene Inhibitory RNA Products For CHRDL1
-
ViGene Biosciences ready-to-package AAV shRNAs for CHRDL1 gene
Clone Products
- Sino Biological Human cDNA Clone for CHRDL1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CHRDL1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHRDL1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CHRDL1
-
ViGene Biosciences adenoviral particle packaged cDNA for CHRDL1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CHRDL1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CHRDL1 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHRDL1 Gene
Localization for CHRDL1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CHRDL1 Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
Pathways & Interactions for CHRDL1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by BMP |
.33
|
|
| 2 | Signaling by GPCR | ||
Pathways by source for CHRDL1 Gene
1 BioSystems pathway for CHRDL1 Gene
2 Reactome pathways for CHRDL1 Gene
Interacting Proteins for CHRDL1 Gene
Selected Interacting proteins:
ENSP00000361112
Q9BU40-CRDL1_HUMAN
for CHRDL1 Gene via
STRING
IID
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001503 | ossification | IEA | -- |
| GO:0001654 | eye development | IMP | 22284829 |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007399 | nervous system development | IEA | -- |
| GO:0030154 | cell differentiation | IEA | -- |
No data available for SIGNOR curated interactions for CHRDL1 Gene
Transcripts for CHRDL1 Gene
mRNA/cDNA for CHRDL1 Gene
- (9) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (116) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CHRDL1 Gene
- Chordin-like 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for CHRDL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHRDL1
- GenScript: Design CRISPR guide RNA sequences for CHRDL1
miRNA Products
- Search ViGene Biosciences for CHRDL1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CHRDL1
- Browse OriGene Inhibitory RNA Products For CHRDL1
-
ViGene Biosciences ready-to-package AAV shRNAs for CHRDL1 gene
Clone Products
- Sino Biological Human cDNA Clone for CHRDL1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CHRDL1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHRDL1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||
| SP4: |
Expression for CHRDL1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Adipose (Muscoskeletal System)
- Visceral White Adipocytes Visceral White Adipose
- Visceral White Adipose
- Inner Cell Mass (Early Embryonic Tissues)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Neural Ectoderm (Nervous System)
- Spinal Neural Plate Cells Neural Plate
-
Brain (Nervous System)
- Protoplasmic Astrocyte Cells Neocortex
-
Glial Cells
- Protoplasmic Astrocyte Cells Neocortex
- Bone (Muscoskeletal System)
- Ovary (Reproductive System)
-
Uterus (Reproductive System)
-
Prostate (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Esophagus (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for CHRDL1 Gene
This gene is overexpressed in Adipose - Subcutaneous (x4.3).
This gene is overexpressed in Vitreous humor (40.0) and Testis (16.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHRDL1 Gene
NURSA nuclear receptor signaling pathways regulating expression of CHRDL1 Gene:
CHRDL1SOURCE GeneReport for Unigene cluster for CHRDL1 Gene:
Hs.496587mRNA Expression by UniProt/SwissProt for CHRDL1 Gene:
Q9BU40-CRDL1_HUMAN
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.
Evidence on tissue expression from TISSUES for CHRDL1 Gene
- Nervous system(4.6)
- Lung(4.4)
- Muscle(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRDL1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Organs:
Head and neck:
- brain
- eye
- eyelid
- head
Primer Products
-
OriGene qPCR primer pairs and template standards for CHRDL1
-
OriGene qPCR primer pairs for CHRDL1
Orthologs for CHRDL1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CHRDL1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CHRDL1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CHRDL1 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Chrdl1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Chrdl1 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CHRDL1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CHRDL1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CHRDL1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | chrdl1 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | sog 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for CHRDL1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Paralogs for CHRDL1 Gene
(3) SIMAP similar genes for CHRDL1 Gene using alignment to 2 proteins:
Variants for CHRDL1 Gene
| SNP ID | Clin | Chr 0X pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs387906713 | Pathogenic, Megalocornea 1, X-linked (MGC1) [MIM:309300] | 110,688,800(-) | AGTGT(G/T)TGTTT | reference, missense | |
| rs1057516043 | Pathogenic | 110,719,855(-) | AGATT(-/T)CCTGC | intron-variant, reference, frameshift-variant | |
| rs387906714 | Pathogenic | 110,694,289(-) | CAAGC(C/T)GACAG | reference, stop-gained | |
| rs398122851 | Pathogenic | 110,688,710(-) | TACTT(-/G)TAATG | reference, frameshift-variant | |
| rs398122852 | Pathogenic | 110,762,800(-) | TTCAG(-/AG)ACATA | reference, frameshift-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1358058 | CNV | insertion | 17803354 |
| esv21564 | CNV | loss | 19812545 |
| esv2666835 | CNV | deletion | 23128226 |
| esv2667764 | CNV | deletion | 23128226 |
| esv3361732 | OTHER | inversion | 20981092 |
| nsv438151 | CNV | loss | 16468122 |
| nsv442813 | CNV | loss | 18776908 |
| nsv507988 | OTHER | sequence alteration | 20534489 |
| nsv515161 | CNV | loss | 21397061 |
| nsv7037 | CNV | deletion | 18451855 |
Residual Variation Intolerance Score:
69.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.73;
46.65% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CHRDL1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRDL1 Gene
Disorders for CHRDL1 Gene
(5) MalaCards diseases for CHRDL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| megalocornea 1, x-linked |
|
|
| megalocornea |
|
|
| isolated congenital megalocornea |
|
|
| corneal degeneration |
|
|
| scurvy |
|
|
Search CHRDL1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CRDL1_HUMAN- Megalocornea 1, X-linked (MGC1) [MIM:309300]: An eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as anterior megalophthalmos, since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. {ECO:0000269 PubMed:22284829}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for CHRDL1
No data available for Genatlas for CHRDL1 Gene
Publications for CHRDL1 Gene
- X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. (PMID: 22284829) Webb T.R. … Hardcastle A.J. (Am. J. Hum. Genet. 2012) 2 3 4 64
- Chordin-like 1, a bone morphogenetic protein-4 antagonist, is upregulated by hypoxia in human retinal pericytes and plays a role in regulating angiogenesis. (PMID: 18587495) Kane R. … O'Brien C. (Mol. Vis. 2008) 3 4 22 64
- Neuralin-1 is a novel Chordin-related molecule expressed in the mouse neural plate. (PMID: 11118896) Coffinier C. … De Robertis E.M. (Mech. Dev. 2001) 2 3 22 64
- Ventroptin: a BMP-4 antagonist expressed in a double-gradient pattern in the retina. (PMID: 11441185) Sakuta H. … Noda M. (Science 2001) 2 3 22 64
- A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. (PMID: 21378988) (Nat. Genet. 2011) 3 46 64
Products for CHRDL1 Gene
- R&D Systems Antibodies for CHRDL1 (Chordin-like 1/CHRDL1)
- R&D Systems Proteins and Enzymes for CHRDL1 (Chordin-like 1/CHRDL1)
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for CHRDL1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CHRDL1
- Search Origene for MassSpec and Protein Over-expression Lysates for CHRDL1
- Origene Custom Protein Services for CHRDL1
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CHRDL1
- Browse OriGene Inhibitory RNA Products For CHRDL1
- OriGene qPCR primer pairs and template standards for CHRDL1
- OriGene qPCR primer pairs for CHRDL1
- OriGene CRISPR knockouts for CHRDL1
- OriGene ORF clones in human for CHRDL1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CHRDL1
- GenScript: Next-day shipping cDNA ORF clone for CHRDL1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CHRDL1
- GenScript Custom Assay Services for CHRDL1
- GenScript Custom overexpressing Cell Line Services for CHRDL1
- GenScript: Design CRISPR guide RNA sequences for CHRDL1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CHRDL1
- Sino Biological Human cDNA Clone for CHRDL1
- Sino Biological Recombinant Proteins for CHRDL1
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for CHRDL1
- Novus Biologicals proteins and lysates for CHRDL1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for CHRDL1
- Abcam proteins for CHRDL1
- Search for Assays for CHRDL1 at Abcam
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- Cloud-Clone Corp. Antibodies for CHRDL1
- Cloud-Clone Corp. Proteins for CHRDL1
- Cloud-Clone Corp Assay Kits for CHRDL1
- Taconic Biosciences Mouse Models for CHRDL1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- antibodies-online Antibodies for CHRDL1: See all 53
- antibodies-online Kits for CHRDL1: See all 7
- antibodies-online Proteins for CHRDL1: See all 7
- Search antibodies-online for peptides
- GeneTex CHRDL1 antibody for CHRDL1
- Search GeneTex for Proteins for CHRDL1
- ViGene Biosciences adenoviral particle packaged cDNA for CHRDL1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CHRDL1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CHRDL1 gene
- Search ViGene Biosciences for CHRDL1
- Santa Cruz Biotechnology (SCBT) Antibodies for CHRDL1
- Search Santa Cruz Biotechnology (SCBT) for CHRDL1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CHRDL1
- Horizon Cell Lines for CHRDL1
- Cyagen custom Knockout/knockin (KOKI) mouse models for CHRDL1
- VectorBuilder custom plasmid, inducible vectors for CHRDL1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHRDL1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CHRDL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
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- (115) ProteomicsDB
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- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer