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FLASH GENE
Symbol CHRD contributors: shn - updated : 11-09-2010
HGNC name chordin
HGNC id 1949
Location 3q27.2      Physical location : 184.097.860 - 184.107.619
Synonym symbol(s) UNQ217/PRO243, MGC133038
DNA
TYPE functioning gene
SPECIAL FEATURE opposite orientation
STRUCTURE 9.76 kb     23 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure CHRD and THPO are transcribed from opposite strands using promoters separated by less than 2kb
MAPPING cloned Y linked   status confirmed
Map cen - D3S3609 - D3S3578 - CHRD - D3S3583 - D3S3592 - qter
Physical map
LOC391598 3 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) LOC391599 3 similar to cytochrome P450 2P1 ABCC5 3q27 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 LOC389179 3 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) HTR3D 3q27.3 5-hydroxytryptamine receptor 3 subunit D HTR3C 3q27.3 5-hydroxytryptamine receptor 3 subunit C LOC389180 3 similar to 5-hydroxytryptamine receptor 3 subunit C HTR3E 3q27.3 5-hydroxytryptamine serotonin receptor 3E LOC285244 3q27.3 similar to Heat shock protein HSP 90-alpha (HSP 86) EIF2B5 3q27 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa DVL3 3q27 dishevelled, dsh homolog 3 (Drosophila) LOC389181 3 hypothetical gene supported by U14990; U14992; NM_001005 AP2M1 3q28 adaptor-related protein complex 2, mu 1 subunit ABCF3 3q25-q25.2 ATP-binding cassette, sub-family F (GCN20), member 3 LOC90113 3q27.3 hypothetical protein BC009862 ALG3 3q27.3 asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase) MGC2408 3q27.3 hypothetical protein MGC2408 CAM-KIIN 3q27.3 CaM-KII inhibitory protein ECE2 3q27q28 endothelin converting enzyme 2 PSMD2 3q27.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 EIF4G1 3q27-qter eukaryotic translation initiation factor 4 gamma, 1 MGC21688 3q27.3 hypothetical protein MGC21688 CLCN2 3q27-q28 chloride channel 2 POLR2H 3q28 polymerase (RNA) II (DNA directed) polypeptide H THPO 3q27-q28 thrombopoietin (myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor) CHRD 3q27 chordin LOC285248 3q27.3 hypothetical LOC285248 LOC391600 3 similar to RIKEN cDNA 2310042E22 EPHB3 3q21-qter EphB3 MAGEF1 3q13 EphB3 LOC389182 3 LOC389182 KIAA0804 3q28 LOC389182
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
23 - 3547 102 955 - Lim (2006)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Nervousbrainhindbraincerebellum highly
Reproductivefemale systemovary  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Connectivebone   
Muscularstriatumskeletal highly
cell lineage
cell lines underexpressed in epithelium ovary cancer and epithelial cancer cell lines (Moll 2006)
fluid/secretion
at STAGE
physiological period embryo, fetal
Text liver and brain cerebellum from gastrulation
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four Cys rich repeats (CHRD )domains
  • four VWFC domains, with SD1 from VWC1 and VWC3 confering BMP affinity and specificity to the protein (Fujisawa 2009)
  • an immunoglobulin-like beta-barrel structure based on limited similarity to superoxide dismutases
  • HOMOLOGY
    interspecies ortholog to Chrd, Mus musculus
    ortholog to Chrd, Rattus norvegicus
    ortholog to CHRD, Pan troglodytes
    Homologene
    FAMILY
  • bone morphogenetic protein inhibitors family
  • chordin family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • developmental protein, dorsalizing factor, dorsoventral axis, acting during gastrulation
  • dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins (Pappano 1998)
  • playing a role as a negative regulator of endochondral ossification
  • inhibitor of bone morphogenetic proteins
  • could participate in regulating BMP activity in normal ovarian surface epithelium physiology
  • with CHRDL2, and BMPER, regulate BMP2 signaling by different recognition mechanisms (Zhang 2007)
  • acts in the pharyngeal region to protect TBX1 expression from inhibition by local BMPs (Choi 2009)
  • modifier for the craniofacial anomalies of TBX1 mutations (existence of a second-site modifier for a specific subset of the phenotypes associated with 22q11 deletion syndrome (Choi 2009)
  • promotes oligodendrogenesis from Subventricular Zone (SVZ) cells in vitro and in vivo and regulates oligodendrogenesis after demyelination (Jablonska 2010)
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS development
    text skeletal development
    PATHWAY
    metabolism
    signaling signal transduction
    cell-cell signaling
    a component
  • forming a ternary complex with TSG and BMPs
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TGF-beta-like bone morphogenetic protein, antagonist
  • BMP extracellular regulator
  • Biglycan, Bgn (Moreno 2005)
  • cell & other
    REGULATION
    Other processed by Tolloid which releases an active BMP
    BMP1 is the major antagonist of CARD in early embryogenesis and in pre and post natal embryogenesis
    cleaved by BMP-1 and mTLL-1 (Scott et al, 1999)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in epithelium ovary cancer and epithelial cancer cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene CDLS (Cornelia de Lange Syndrome)
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice double-homozygous mutants for chordin and noggin display severe defects in the development of the prosencephalon (Bachiller et al, 2000)
  • CHRD null phenotype is a completely penetrant constellation of defects including dysmorphic ear, absence of thymus (athymia), persistent truncus arteriosus (PTA), abnormal aortic arch artery structure, cleft palate (Choi 2009)