PRSS56 - serine protease 56 Gene

Homo sapiens

Also known as MCOP6

Gene ID: 646960 | Gene type: protein coding

About PRSS56

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:232,520,388-232,525,716 (from NCBI)

This gene has 2 transcripts (splice variants), 182 orthologues, 1 paralogue and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]

PRSS56 Products(2)

mRNA	Protein	Name
NM_001195129.2	NP_001182058.1	serine protease 56 isoform 2 precursor
NM_001369848.1	NP_001356777.1	serine protease 56 isoform 1 precursor

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Reference	Source
involved in camera-type eye development	IMP IMP: Inferred from mutant phenotype	21397065	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRSS56 Protein Structure

Trypsin

0
100
200
300
400
500
604 a.a.

Protein Preferred Names

Protein Names

serine protease 56

protease, serine 56

Related Diseases

Diseases

Alias

Microphthalmia, Isolated 6

Isolated Microphthalmia 6	MCOP6
Microphthalmia, Posterior Nonsyndromic	Posterior Nonsyndromic Microphthalmia
Microphthalmia, Isolated, 6	Autosomal Recessive Posterior Microphthalmos
Posterior Non-Syndromic Microphthalmia	Microphthalmia, Isolated, Type 6

Nanophthalmos

Nanophthalmia

Strabismic Amblyopia

Suppression Amblyopia	Amblyopia
Amblyopia, Suppression

Amblyopia

Lazy Eye

Aqueous Misdirection

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Interval Angle-Closure Glaucoma

Intermittent Angle-Closure Glaucoma	Angle-Closure Glaucoma, Subacute
Prodromal Angle Closure Glaucoma

Isolated Microphthalmia

Optic Disk Drusen

Optic Disc Drusen	Drusen Of Optic Disc
Optic Nerve Head Drusen	Drusen Optic Disc

Pseudopapilledema

Primary Angle-Closure Glaucoma

Primary Angle Closure Glaucoma	Angle Closure Glaucoma
Acg - [Angle Closure Glaucoma]	Angle-Closure Glaucoma
Closed Angle Glaucoma	Acute Glaucoma
Prodromal Angle Closure Glaucoma

Keipert Syndrome

Nasodigitoacoustic Syndrome	KPTS
Nasodigitoacoustic Syndrome, Formerly

Refractive Error

Refractive Errors

Refractive Amblyopia

Ametropic Amblyopia

Kenny-Caffey Syndrome, Type 2

KCS2	Kenny-Caffey Syndrome Type 2
Autosomal Dominant Kenny-Caffey Syndrome	Kenny Syndrome
Dwarfism, Cortical Thickening Of Tubular Bones, And Transient Hypocalcemia	Dwarfism, Cortical Thickening Of Tubular Bones And Transient Hypocalcemia
Kenny-Caffey Syndrome, Autosomal Dominant	Kenny-Caffey Syndrome 2
Dwarfism With Cortical Thickening Of Tubular Bones And Transient Hypocalcemia	Kenny-Caffey Syndrome

Kenny-Caffey Syndrome

Kenny Syndrome

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Cycloplegia

Ciliary Muscle Paresis	Cycloplegic Paralysis Of Accommodation
Paresis Of Accommodation	Visual Accommodation Paralysis
Accommodation Paralysis	Intrinsic Paralysis Of Eye Muscle
Cycloplegic

Primary Congenital Glaucoma

Vitreoretinochoroidopathy

Autosomal Dominant Vitreoretinochoroidopathy	Advirc
Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract	Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2	Vitreoretinochoroidopathy Dominant
VRCP	Vitreoretinochoroidopathy, Autosomal Dominant
Vrcp Autosomal Dominant	Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma
Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract

Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos

Degenerative Myopia

Pathological Myopia	Myopia, Degenerative
Degenerative Progressive High Myopia	Progressive High Myopia
Progressive High Myopia

Total Anomalous Pulmonary Venous Return 1

Scimitar Syndrome	Total Anomalous Pulmonary Venous Return
Anomalous Pulmonary Venous Return	Scimitar Anomaly
TAPVR1	Apvr
Halasz Syndrome	Hypogenetic Lung Syndrome
Pulmonary Venolobar Syndrome	TAPVR
Congenital Total Pulmonary Venous Return Anomaly	Congenital Venolobar Syndrome
Mirror-Image Lung Syndrome	Vena Cava Bronchovascular Syndrome
Pulmonary Venous Return Anomaly	Congenital Pulmonary Venolobar Syndrome
Epibronchial Right Pulmonary Vein Syndrome

Acute Closed-Angle Glaucoma

Acute Angle-Closure Glaucoma

Enophthalmos

Glaucoma 3, Primary Congenital, A

Buphthalmos	Glaucoma, Congenital
Congenital Glaucoma	Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
GLC3A	Glc3
Buphthalmia	Primary Congenital Glaucoma
Glaucoma, Primary Open Angle, Juvenile-Onset	Simple Buphthalmos
Buphthalmus	Glaucoma, Primary Open Angle, Adult-Onset
Primary Congenital Glaucoma 3a	Primary Infantile Glaucoma Type 3a
Glaucoma 3a, Primary Congenital	Glaucoma, Congenital, Primary, Type 3a
Hydrophthalmos	Cystic Eyeball

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E	Primary Open Angle Glaucoma
POAG	Adult-Onset Primary Open Angle Glaucoma
Chronic Simple Glaucoma	GLC1E
Primary Open Angle Glaucoma 1e	Glaucoma, Open Angle, Primary

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11257	PRSS56 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PRSS56	VGNC	VGNC:107606
Rattus norvegicus	PRSS56	RGD	RGD:1563955
Canis familiaris	PRSS56	VGNC	VGNC:45073
Mus musculus	PRSS56	MGD	MGI:1916703
Bos taurus	PRSS56	VGNC	VGNC:106880