Gene: PLCH1
Alternate names for this Gene: PLC eta 1|PLC-L3|PLCL3
Gene Summary: PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009].
Gene is located in Chromosome: 3
Location in Chromosome : 3q25.31
Description of this Gene: phospholipase C eta 1
Type of Gene: protein-coding
rs114436839 in
PLCH1 gene and
Adenocarcinoma of large intestine
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs16825225 in
PLCH1 gene and
Adolescent idiopathic scoliosis
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
rs114436839 in
PLCH1 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs114436839 in
PLCH1 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs114436839 in
PLCH1 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs114436839 in
PLCH1 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs114436839 in
PLCH1 gene and
Colorectal Carcinoma
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs114436839 in
PLCH1 gene and
Colorectal Neoplasms
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs114436839 in
PLCH1 gene and
Malignant neoplasm of large intestine
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs114436839 in
PLCH1 gene and
Malignant tumor of colon
PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
rs16825225 in
PLCH1 gene and
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.