SERPINB7 - serpin family B member 7 Gene

Also Known as PPKN; TP55; MEGSIN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8710

About SERPINB7

Cytogenetic location: 18q21.33 Genomic coordinates (GRCh38): 18:63,753,057-63,805,370 (from NCBI)

This gene has 7 transcripts (splice variants), 94 orthologues, 36 paralogues and is associated with 2 phenotypes. Restricted expression toward skin (RPKM 40.5).

Summary

This gene encodes a member of a family of proteins which function as Protease Inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

SERPINB7 Products (4)

mRNA	Protein	Name
NM_001040147.3	NP_001035237.1	serpin B7 isoform 1
NM_001261830.2	NP_001248759.1	serpin B7 isoform 1
NM_001261831.2	NP_001248760.1	serpin B7 isoform 2
NM_003784.4	NP_003775.1	serpin B7 isoform 1

SERPINB7 Protein Structure

Serpin

0
100
200
300
380 a.a.

Protein Preferred Names	Protein Names
serpin B7	mesangium predominant gene, megsin

Related Diseases

Diseases	Alias
Palmoplantar Keratoderma, Nagashima Type	PPKN Keratoderma, Palmoplantar, Nagashima Type Ppk, Nagashima Type Palmoplantar Hyperkeratosis, Nagashima Type
Palmoplantar Keratosis	Palmoplantar Keratoderma Keratosis Palmaris Et Plantaris Palmo-Plantar Keratodermas Keratoderma, Palmoplantar Keratoderma Palmoplantar Keratoderma, Palmoplantar, Diffuse Hyperkeratosis Of Palms And Soles Palmoplantar Hyperkeratosis
Keratosis	Actinic Keratosis Hyperkeratosis
Iga Glomerulonephritis	Iga Nephropathy Glomerulonephritis, Iga Berger'S Iga Or Igg Nephropathy Focal Glomerulonephritis Primary Iga Nephropathy Segmental Glomerulonephritis Berger Disease Berger'S Disease Igan Nephritis, Iga Type Nephropathy Iga Glomerulonephritis Focal Iga Nephropathy, Susceptibility To Primary Immunoglobulin A Nephropathy
Subacute Glomerulonephritis
Mal De Meleda	Meleda Disease Keratosis Palmoplantaris Transgrediens Of Siemens MDM Transgrediens Palmoplantar Keratoderma Of Siemens Acroerythrokeratoderma Keratosis Palmoplantaris Transgradiens Of Siemens
Lipoid Nephrosis	Minimal Change Disease Minimal Change Glomerulonephritis Nephrotic Syndrome With Lesion Of Minimal Change Glomerulonephritis Nephrotic Syndrome With Lesion Of Minimal Change Nephrotic Syndrome Idiopathic Minimal Change Nephrotic Syndrome Mcns Minimal Change Glomerulopathy Minimal Change Nephrotic Syndrome Nephrotic Syndrome Minimal Change Nephrosis, Lipoid Glomerulonephritis, Minimal Change Nephrotic Syndrome, Minimal Change
Membranous Nephropathy	Membranous Glomerulonephritis Glomerulonephritis, Membranous Idiopathic Membranous Nephropathy Idiopathic Membranous Glomerulonephritis MBNP Membranous Nephropathy, Susceptibility To Extramembranous Glomerulonephritis Mgn Membranous Gn Primary Membranous Glomerulonephritis Primary Membranous Nephropathy Nephropathy Membranous
Punctate Palmoplantar Keratoderma	Punctate Palmoplantar Hyperkeratosis Punctate Keratosis Palmoplantaris Punctate Ppk
Tomato Allergy	Solanum Lycopersicum Fruit Allergy
Microvascular Complications Of Diabetes 3	Diabetic Nephropathy Microvascular Complications Of Diabetes, Susceptibility To, 3 MVCD3 Nephropathy, Diabetic Nephropathy, Diabetic, Susceptibility To End-Stage Renal Disease, Diabetic End-Stage Renal Disease, Diabetic, Susceptibility To Diabetic End-Stage Renal Disease Diabetic Nephropathies
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Palmoplantar Keratoderma, Epidermolytic	Epidermolytic Palmoplantar Keratoderma EPPK Keratosis Palmaris Et Plantaris Familiaris Tylosis Keratosis Of Greither Diffuse Nonepidermolytic Palmoplantar Keratoderma Keratoderma, Palmoplantar, Epidermolytic Unna-Thost Palmoplantar Keratoderma Epidermolytic Palmoplantar Keratoderma Of Voerner Ppke Keratoderma, Epidermolytic Palmoplantar Palmoplantar Keratoderma, Vorner Type Hyperkeratosis, Localized Epidermolytic Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type Epidermolytic Palmoplantar Keratoderma Of Vörner Hyperkeratosis Palmoplantar Localized Epidermolytic Diffuse Neppk Ppk Diffusa Circumscripta Thost-Unna Disease Thost-Unna Palmoplantar Keratoderma Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type Diffuse Erythrodermic Palmoplantar Keratoderma, Vorner Type Epidermolytic Palmoplantar Keratoderma Of Vorner Ehppk Epidermolytic Unna-Thost Disease Localized Epidermolytic Hyperkeratosis Palmoplantar Keratoderma Vorner Type Unilateral Palmoplantar Verrucous Nevus UPVN Keratoderma, Palmoplantar, Diffuse Hyperkeratosis Palmoplantar Keratoderma, Nonepidermolytic Epidermolytic Palmoplantar Keratoderma Vorner Type Type B Tylosis Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas Type A Tylosis
Benign Chronic Pemphigus	Hailey-Hailey Disease Pemphigus, Benign Familial Familial Benign Pemphigus Benign Familial Pemphigus Familial Benign Chronic Pemphigus BCPM HHD Benign Chronic Familial Pemphigus Of Hailey-Hailey Pemphigus, Chronic, Benign
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Olmsted Syndrome Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques Palmoplantar And Periorificial Keratoderma Olms
Erythrokeratodermia Variabilis Et Progressiva 1	Erythrokeratodermia Variabilis Erythrokeratodermia Variabilis Et Progressiva Greither Disease Ekv Ekvp PSEK Erythrokeratodermia Variabilis With Erythema Gyratum Repens Keratosis Palmoplantaris Transgrediens Et Progrediens Transgrediens Et Progrediens Palmoplantar Keratoderma EKVP1 Erythrokeratodermia, Progressive Symmetric Erythrokeratodermia Figurata, Congenital Familial, In Plaques Keratoderma Palmoplantaris Transgrediens Keratosis Extremitatum Hereditaria Progrediens Erythrokeratodermia Variabilis, Mendes Da Costa Type Progressive Symmetric Erythrokeratodermia Erythrokeratodermia Figurata Variabilis Greither'S Disease Ekv-P Erythrokeratodermia Variabilis Of Mendes Da Costa Progressive Symmetrical Erythrokeratoderma Of Gottron Progressive Diffuse Ppk Progressive Diffuse Palmoplantar Keratoderma Transgrediens Et Progrediens Ppk Darier-Gottron Disease Erythrokeratodermia Progressiva Symmetrica Progressive Symmetric Erythrokeratodermia, Gottron Type Congenital Familial Erythrokeratodermia Figurata In Plaques Erythrokeratodermia Progressive Symmetric Erythrokeratodermia Variabilis Mendes Da Costa Type
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

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.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS12715	SERPINB7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SERPINB7	VGNC	VGNC:55079
Canis familiaris	SERPINB7	VGNC	VGNC:46032
Mus musculus	SERPINB7	MGD	MGI:2151053
Macaca mulatta	SERPINB7	VGNC	VGNC:77229
Felis catus	SERPINB7	VGNC	VGNC:65027
Rattus norvegicus	SERPINB7	RGD	RGD:71063
Others	SERPINB7	NCBI