Gene: POC1B

Alternate names for this Gene: CORD20|PIX1|TUWD12|WDR51B

Gene Summary: POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12q21.33

Description of this Gene: POC1 centriolar protein B

Type of Gene: protein-coding

rs145485557 in POC1B gene and Alcohol consumption PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs3958726 in POC1B gene and Blood Pressure PMID 22100073 2011 Blood pressure loci identified with a gene-centric array.

rs10535587 in POC1B gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs76216585 in POC1B gene and CONE-ROD DYSTROPHY 20 PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.

PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.

PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

rs76216585 in POC1B gene and Congenital heart disease PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.

PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.

rs145485557 in POC1B gene and Diastolic blood pressure PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs10777163 in POC1B gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs76216585 in POC1B gene and Hepatic Fibrosis, Congenital PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.

PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.

rs10777181 in POC1B gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs145485557 in POC1B gene and Mean blood pressure PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs76216585 in POC1B gene and Microcephaly (physical finding) PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.

PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.

PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

rs35761782 in POC1B gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs35761782 in POC1B gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs76216585 in POC1B gene and Retinal Dystrophies PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.

PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.

rs145485557 in POC1B gene and Systolic Pressure PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.