GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

PMID:19506109

From GONUTS
Jump to: navigation, search
Citation

Smith, KA, Joziasse, IC, Chocron, S, van Dinther, M, Guryev, V, Verhoeven, MC, Rehmann, H, van der Smagt, JJ, Doevendans, PA, Cuppen, E, Mulder, BJ, Ten Dijke, P and Bakkers, J (2009) Dominant-negative ALK2 allele associates with congenital heart defects. Circulation 119:3062-9

Abstract

Serious congenital heart defects occur as a result of improper atrioventricular septum (AVS) development during embryogenesis. Despite extensive knowledge of the genetic control of AVS development, few genetic lesions have been identified that are responsible for AVS-associated congenital heart defects.

Links

PubMed Online version:10.1161/CIRCULATIONAHA.108.843714

Keywords

Activin Receptors, Type I/genetics; Activin Receptors, Type I/metabolism; Alleles; Amino Acid Substitution; Animals; COS Cells; Cattle; Cercopithecus aethiops; Female; Genes, Dominant; Heart/embryology; Heart/physiopathology; Heart Septal Defects/genetics; Heart Septal Defects/metabolism; Heart Septal Defects/physiopathology; Humans; Male; Mutation, Missense; Myocardium/metabolism; Netherlands; Polymorphism, Single Nucleotide; Zebrafish/embryology; Zebrafish/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

DANRE:A0A2R8QME4

involved_in

GO:0001947: heart looping

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-GENO-100813-3

P

Seeded From UniProt

complete

DANRE:A0A2R8QU31

involved_in

GO:0001947: heart looping

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-GENO-100813-3

P

Seeded From UniProt

complete

DANRE:B0S6Y3

involved_in

GO:0001947: heart looping

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-GENO-100813-3

P

Seeded From UniProt

complete

DANRE:F1QQ43

involved_in

GO:0001947: heart looping

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-GENO-100813-3

P

Seeded From UniProt

complete

DANRE:Q1KHF9

involved_in

GO:0001947: heart looping

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-GENO-100813-3

P

Seeded From UniProt

complete

HUMAN:ACVR1

involved_in

GO:0045944: positive regulation of transcription by RNA polymerase II

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:ACVR1

involved_in

GO:0060923: cardiac muscle cell fate commitment

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:ACVR1

involved_in

GO:0032924: activin receptor signaling pathway

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:ACVR1

involved_in

GO:0010862: positive regulation of pathway-restricted SMAD protein phosphorylation

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:ACVR1

involved_in

GO:0006468: protein phosphorylation

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:ACVR1

involved_in

GO:0003289: atrial septum primum morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:ACVR1

involved_in

GO:0003183: mitral valve morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:ACVR1

involved_in

GO:0003143: embryonic heart tube morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:ACVR1

involved_in

GO:0061445: endocardial cushion cell fate commitment

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:ACVR1

involved_in

GO:2000017: positive regulation of determination of dorsal identity

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

See Help:References for how to manage references in GONUTS.