U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SERPINB7 serpin family B member 7 [ Homo sapiens (human) ]

Gene ID: 8710, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
SERPINB7provided by HGNC
Official Full Name
serpin family B member 7provided by HGNC
Primary source
HGNC:HGNC:13902
See related
Ensembl:ENSG00000166396 MIM:603357; AllianceGenome:HGNC:13902
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PPKN; TP55; MEGSIN
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]
Expression
Restricted expression toward skin (RPKM 40.5) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See SERPINB7 in Genome Data Viewer
Location:
18q21.33
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (63753057..63805370)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (63958110..64010475)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (61420291..61472604)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene serpin family B member 11 Neighboring gene uncharacterized LOC124904318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13469 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:61536385-61537584 Neighboring gene uncharacterized LOC124904356 Neighboring gene serpin family B member 2 Neighboring gene serpin family B member 10

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. SerpinB7 deficiency contributes to development of psoriasis via calcium-mediated keratinocyte differentiation dysfunction. Zheng H, et al. Cell Death Dis, 2022 Jul 21. PMID 35864103, Free PMC Article
  2. Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population. Xiao T, et al. J Dermatol, 2022 May. PMID 35178744, Free PMC Article
  3. Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion. Cohen-Barak E, et al. Exp Dermatol, 2022 Feb. PMID 34379845, Free PMC Article
  4. Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma. Ito Y, et al. J Dermatol Sci, 2021 Aug. PMID 34334259
  5. SERPINB7 novel mutation in Chinese patients with Nagashima-type palmoplantar keratosis and cases associated with atopic dermatitis. Zhao J, et al. Int J Dermatol, 2020 Sep. PMID 32406097

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SERPINB7 mutation causes Nagashima-type palmoplantar keratosis and its spatiotemporal expression in zebrafish.
    Title: SERPINB7 mutation causes Nagashima-type palmoplantar keratosis and its spatiotemporal expression in zebrafish.
  2. SerpinB7 deficiency contributes to development of psoriasis via calcium-mediated keratinocyte differentiation dysfunction.
    Title: SerpinB7 deficiency contributes to development of psoriasis via calcium-mediated keratinocyte differentiation dysfunction.
  3. Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population.
    Title: Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population.
  4. Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis.
    Title: Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis.
  5. Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.
    Title: Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.
  6. Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma.
    Title: Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma.
  7. SERPINB7 novel mutation in Chinese patients with Nagashima-type palmoplantar keratosis and cases associated with atopic dermatitis.
    Title: SERPINB7 novel mutation in Chinese patients with Nagashima-type palmoplantar keratosis and cases associated with atopic dermatitis.
  8. Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation.
    Title: Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation.
  9. SERPINB7 may be a valuable candidate for further studies. In the present study, a method for identifying novel key pathogenic skinspecific molecules is presented, which may be used for investigating and treating psoriasis.
    Title: Systematic screening and identification of novel psoriasis‑specific genes from the transcriptome of psoriasis‑like keratinocytes.
  10. mutant SERPINB7 mRNAs harboring r.796c>u were degraded by nonsense-mediated mRNA decay. Furthermore, the truncated SERPINB7 protein was degraded via a proteasome-mediated pathway
    Title: Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts.
Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Palmoplantar keratoderma, Nagashima type
MedGen: C3810072 OMIM: 615598 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of serpin peptidase inhibitor, clade B, member 7 (SERPINB7) in peptide-treated PBMCs PubMed
capsid gag Exposure of dendritic cells to HIV-1 CA significantly decreases the presentation of ovalbumin to a SIINFEKL-specific CD8(+) T-cell hybridoma, and that decrease could be overcome by pretreating the cells with INF-gamma PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC120014, MGC120015, DKFZp686D06190

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of collagen biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of glomerular mesangial cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of platelet-derived growth factor production IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transforming growth factor beta1 production IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
serpin B7
Names
mesangium predominant gene, megsin
serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7
serpin peptidase inhibitor, clade B (ovalbumin), member 7

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034150.1 RefSeqGene

    Range
    27372..57324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001040147.3 → NP_001035237.1  serpin B7 isoform 1

    See identical proteins and their annotated locations for NP_001035237.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AF027866, CD702645, D88575
    Consensus CDS
    CCDS11988.1
    UniProtKB/Swiss-Prot
    B4DUW8, F5GZC0, O75635, Q1ED45, Q3KPG4
    UniProtKB/TrEMBL
    A8K4B1
    Related
    ENSP00000337212.2, ENST00000336429.6
    Conserved Domains (1) summary
    cd19566
    Location:1 → 380
    serpinB7_megsin; serpin family B member 7, megsin

  2. NM_001261830.2 → NP_001248759.1  serpin B7 isoform 1

    See identical proteins and their annotated locations for NP_001248759.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AF027866, AK290673, D88575
    Consensus CDS
    CCDS11988.1
    UniProtKB/Swiss-Prot
    B4DUW8, F5GZC0, O75635, Q1ED45, Q3KPG4
    UniProtKB/TrEMBL
    A8K4B1
    Related
    ENSP00000444861.1, ENST00000546027.5
    Conserved Domains (1) summary
    cd19566
    Location:1 → 380
    serpinB7_megsin; serpin family B member 7, megsin

  3. NM_001261831.2 → NP_001248760.1  serpin B7 isoform 2

    See identical proteins and their annotated locations for NP_001248760.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AF027866, AK300828, BP332064, D88575
    Consensus CDS
    CCDS58633.1
    UniProtKB/TrEMBL
    A8K4B1
    Related
    ENSP00000444572.1, ENST00000540675.5
    Conserved Domains (1) summary
    cl00137
    Location:4 → 363
    SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...

  4. NM_003784.4 → NP_003775.1  serpin B7 isoform 1

    See identical proteins and their annotated locations for NP_003775.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2 and 3 encode the same isoform.
    Source sequence(s)
    AF027866, BC069417, BP332064, D88575
    Consensus CDS
    CCDS11988.1
    UniProtKB/Swiss-Prot
    B4DUW8, F5GZC0, O75635, Q1ED45, Q3KPG4
    UniProtKB/TrEMBL
    A8K4B1
    Related
    ENSP00000381101.2, ENST00000398019.7
    Conserved Domains (1) summary
    cd19566
    Location:1 → 380
    serpinB7_megsin; serpin family B member 7, megsin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    63753057..63805370
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451278.1 → XP_024307046.1  serpin B7 isoform X1

    UniProtKB/Swiss-Prot
    B4DUW8, F5GZC0, O75635, Q1ED45, Q3KPG4
    UniProtKB/TrEMBL
    A8K4B1
    Conserved Domains (1) summary
    cd19566
    Location:1 → 380
    serpinB7_megsin; serpin family B member 7, megsin

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    63958110..64010475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319290.1 → XP_054175265.1  serpin B7 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75635.1 GenPept UniProtKB/Swiss-Prot:O75635

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous