Gene: JAG1

Alternate names for this Gene: AGS|AGS1|AHD|AWS|CD339|DCHE|HJ1|JAGL1

Gene Summary: The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis.

Gene is located in Chromosome: 20

Location in Chromosome : 20p12.2

Description of this Gene: jagged canonical Notch ligand 1

Type of Gene: protein-coding

rs1568791694 in JAG1 gene and Alagille Syndrome PMID 26076142 2015 JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.

PMID 10220506 1999 Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.

PMID 15712272 2005 Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

PMID 12442286 2002 DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.

PMID 9207788 1997 Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

rs1032920906 in JAG1 gene and Alagille Syndrome 1 PMID 15712272 2005 Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

PMID 16575836 2006 Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.

PMID 23801938 2013 Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.

PMID 9585603 1998 Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

PMID 9207788 1997 Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

PMID 12442286 2002 DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.

PMID 11058898 2000 Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.

PMID 20437614 2010 Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

PMID 11180599 2001 Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.

PMID 11157803 2001 Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.

PMID 11139247 2001 Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.

PMID 12497640 2003 Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.

PMID 10533065 1999 Jagged-1 mutation analysis in Italian Alagille syndrome patients.

PMID 10220506 1999 Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.

PMID 22487239 2012 Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.

PMID 25676721 2015 Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.

PMID 24748328 2014 Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.

PMID 26076142 2015 JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.

PMID 26548814 2016 Jagged1 (JAG1): Structure, expression, and disease associations.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 22488849 2012 Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.

rs2273061 in JAG1 gene and Bone Density PMID 20096396 2010 Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.

PMID 22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs2273061 in JAG1 gene and Bone Mineral Density Test PMID 20096396 2010 Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.

PMID 22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

rs727504412 in JAG1 gene and Congenital Heart Defects PMID 9207788 1997 Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

PMID 10220506 1999 Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.

PMID 15712272 2005 Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

PMID 12442286 2002 DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.

rs121918353 in JAG1 gene and Deafness, Congenital Heart Defects, and Posterior Embryotoxon PMID 20437614 2010 Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

PMID 12022040 2002 Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.

rs1883801 in JAG1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs863223648 in JAG1 gene and Mid aortic syndrome PMID 29483232 2018 Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.

rs7828 in JAG1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs28939668 in JAG1 gene and Tetralogy of Fallot PMID 20437614 2010 Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

PMID 11152664 2001 Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

rs12625256 in JAG1 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs1997814 in JAG1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.