Identity
HGNC
LOCATION
12q21.33
LOCUSID
ALIAS
CORD20,PIX1,TUWD12,WDR51B
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 282809
MIM: 614784
HGNC: 30836
Ensembl: ENSG00000139323
Variants:
dbSNP: 282809
ClinVar: 282809
TCGA: ENSG00000139323
COSMIC: POC1B
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37246743 | 2024 | Phenotypic and genotypic features of POC1B-associated cone dystrophy. | 0 |
| 37246743 | 2024 | Phenotypic and genotypic features of POC1B-associated cone dystrophy. | 0 |
| 36094084 | 2023 | Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis. | 0 |
| 37070736 | 2023 | Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice. | 5 |
| 36094084 | 2023 | Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis. | 0 |
| 37070736 | 2023 | Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice. | 5 |
| 33657974 | 2021 | A homozygous POC1B variant causes recessive cone-rod dystrophy. | 1 |
| 34065499 | 2021 | Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants. | 10 |
| 34221209 | 2021 | Differential Expression Study of Lysine Crotonylation and Proteome for Chronic Obstructive Pulmonary Disease Combined with Type II Respiratory Failure. | 5 |
| 33657974 | 2021 | A homozygous POC1B variant causes recessive cone-rod dystrophy. | 1 |
| 34065499 | 2021 | Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants. | 10 |
| 34221209 | 2021 | Differential Expression Study of Lysine Crotonylation and Proteome for Chronic Obstructive Pulmonary Disease Combined with Type II Respiratory Failure. | 5 |
| 32244552 | 2020 | Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants. | 10 |
| 32244552 | 2020 | Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants. | 10 |
| 31390656 | 2019 | Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance. | 7 |
Citation
Dessen P
POC1B (POC1 centriolar protein B)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56598/poc1b-(poc1-centriolar-protein-b)
