help  | about  | cite  | software

Gene : CRELD1 Homo sapiens

Name  ? cysteine rich with EGF like domains 1 Cytological Location  3p25.3
Brief Description  cysteine rich with EGF like domains 1
Description  This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
  • synonyms:
  • CIRRIN,
  • OTTHUMG00000128653,
  • cysteine-rich with EGF-like domains 1,
  • HGNC:14630,
  • AVSD2,
  • atrioventricular septal defect 2,
  • AF452623,
  • cysteine rich with EGF-like domains 1,
  • NM_015513,
  • uc003buh.3,
  • AVSD2,
  • CRELD1
  • identifiers:
  • 78987,
  • ENSG00000163703,
  • CRELD1

Genome feature

Region: gene ? Length: 11619  
Location: 3:9933788-9945406 Cyto location: 3p25.3


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

6 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results