PRSS56 - serine protease 56 Gene

Also Known as MCOP6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 646960

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	References	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

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 Set	/	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
Others	PRSS56	NCBI