1. Gene
  2. SERPINB7 - serpin family B member 7 Gene

SERPINB7 - serpin family B member 7 Gene

Homo sapiens

Also known as PPKN; TP55; MEGSIN

Gene ID: 8710 | Gene type: protein coding

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

Serpin: Serpin (serine protease inhibitor) (7 - 380)

  • 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

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