POC1B (POC1 centriolar protein B)

2016-10-01  

Identity

HGNC
POC1B
LOCATION
12q21.33
LOCUSID
282809
ALIAS
CORD20,PIX1,TUWD12,WDR51B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 282809
MIM: 614784
HGNC: 30836
Ensembl: ENSG00000139323

Variants:

dbSNP: 282809
ClinVar: 282809
TCGA: ENSG00000139323
COSMIC: POC1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139323ENST00000313546Q8TC44
ENSG00000139323ENST00000313546A0MNP0
ENSG00000139323ENST00000393179Q8IU52
ENSG00000139323ENST00000546830F8VX21
ENSG00000139323ENST00000547274F8VV91
ENSG00000139323ENST00000547496F8VV91
ENSG00000139323ENST00000548715F8VV91
ENSG00000139323ENST00000549035Q8TC44
ENSG00000139323ENST00000549504F8VPF1

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
372467432024Phenotypic and genotypic features of POC1B-associated cone dystrophy.0
372467432024Phenotypic and genotypic features of POC1B-associated cone dystrophy.0
360940842023Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis.0
370707362023Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.5
360940842023Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis.0
370707362023Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.5
336579742021A homozygous POC1B variant causes recessive cone-rod dystrophy.1
340654992021Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.10
342212092021Differential Expression Study of Lysine Crotonylation and Proteome for Chronic Obstructive Pulmonary Disease Combined with Type II Respiratory Failure.5
336579742021A homozygous POC1B variant causes recessive cone-rod dystrophy.1
340654992021Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.10
342212092021Differential Expression Study of Lysine Crotonylation and Proteome for Chronic Obstructive Pulmonary Disease Combined with Type II Respiratory Failure.5
322445522020Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.10
322445522020Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.10
313906562019Phenotypical 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