Gene: PRICKLE4

Alternate names for this Gene: C6orf49|OBTP|OEBT|TOMM6

Gene Summary: C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.66109.1, SRR1803613.180957.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000458694.6/ ENSP00000404911.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: prickle planar cell polarity protein 4

Type of Gene: protein-coding

Gene: FRS3

Alternate names for this Gene: FRS2-beta|FRS2B|FRS2beta|SNT-2|SNT2

Gene Summary: This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: fibroblast growth factor receptor substrate 3

Type of Gene: protein-coding

rs12193797 in PRICKLE4;FRS3 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs13193974 in PRICKLE4;FRS3 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs6905726 in PRICKLE4;FRS3 gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.