PRSS56 (serine protease 56)

2014-11-01 Affiliation

Identity

HGNC

PRSS56

LOCATION

2q37.1

LOCUSID

646960

ALIAS

MCOP6

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: 646960
MIM: 613858
HGNC: 39433
Ensembl: ENSG00000237412

Variants:

dbSNP: 646960
ClinVar: 646960
TCGA: ENSG00000237412
COSMIC: PRSS56

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000237412	ENST00000617714	P0CW18

Expression (GTEx)

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 ID	Year	Title	Citations
23127749	2013	Biometric and molecular characterization of clinically diagnosed posterior microphthalmos.	16
31266062	2019	Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.	3
31992737	2020	The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.	1
21397065	2011	Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.	0
21532570	2011	Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.	0
21850159	2011	Mutations in a novel serine protease PRSS56 in families with nanophthalmos.	0
23820083	2013	Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.	0
24227917	2013	Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma.	0

Citation

Dessen P

PRSS56 (serine protease 56)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72318/prss56