CHRD Gene Summary [Human]

This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. It has been suggested that this gene could be a candidate gene for Cornelia de Lange syndrome. Reduced expression of this gene results in enhanced bone regeneration. Alternative splicing results in multiple transcript variants. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq, Jan 2015]

Details

Type
Nonsense Mediated Decay
Official Symbol
CHRD
Official Name
chordin [Source:HGNC Symbol;Acc:HGNC:1949]
Ensembl ID
ENSG00000090539
Bio databases IDs NCBI: 8646 Ensembl: ENSG00000090539
Aliases chordin
Synonyms Chd, chordin
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CHRD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • von Willebrand factor type C domain
  • cytokine binding
  • binding protein
  • CHRD domain
  • syndecan binding
  • protein binding
  • heparin binding
  • cysteine rich domain

Pathways

Biological processes and signaling networks where the CHRD gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • osteogenesis imperfecta type III
  • holoprosencephaly
  • androgenic alopecia
  • tinnitus
  • congenital heart disease
  • cyclopia
regulated by
regulates
role in cell
  • proliferation
  • cell death
  • migration
  • differentiation
  • morphology
  • organization
  • invasion
  • adhesion
  • Clathrin mediated endocytosis by
  • commitment

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • cell surface

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CHRD gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of BMP signaling pathway
  • skeletal system development
  • BMP signaling pathway
  • spinal cord dorsal/ventral patterning
  • positive regulation of mesenchymal cell proliferation
  • positive regulation of cell adhesion
  • floor plate development
  • negative regulation of cell migration
  • dorsal/ventral pattern formation
  • negative regulation of osteoblast differentiation

Cellular Component

Where in the cell the gene product is active
  • extracellular space

Molecular Function

What the gene product does at the molecular level
  • BMP binding
  • protein binding
  • cytokine binding

Gene-Specific Assays for Results You Can Trust

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