SERPINB4 serpin family B member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SERPINB4provided by HGNC
Official Full Name: serpin family B member 4provided by HGNC
Primary source: HGNC:HGNC:10570
See related: Ensembl:ENSG00000206073 MIM:600518; AllianceGenome:HGNC:10570
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: PI11; SCCA1; SCCA2; LEUPIN; SCCA-2
Summary: The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic inflammation. [provided by RefSeq, Jan 2017]
Expression: Biased expression in esophagus (RPKM 63.1), urinary bladder (RPKM 11.6) and 1 other tissue See more
Orthologs: all
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Genomic context

Location:: 18q21.33

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (63637259..63644256, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (63842341..63849338, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (61304493..61311490, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ALK fusion NSCLC oncogenes promote survival and inhibit NK cell responses via SERPINB4 expression.
Title: ALK fusion NSCLC oncogenes promote survival and inhibit NK cell responses via SERPINB4 expression.
Increased expression of squamous cell carcinoma antigen 1 and 2 in mycosis fungoides and Sezary syndrome", trans "Increased expression of squamous cell carcinoma antigen 1 and 2 in mycosis fungoides and Sezary syndrome.
Title: Increased expression of squamous cell carcinoma antigen 1 and 2 in mycosis fungoides and Sézary syndrome.
Differences in Thymus and Activation-Regulated Chemokine and Squamous Cell Carcinoma Antigen 2 Levels in Food Protein-Induced Enterocolitis Syndrome and Atopic Dermatitis.
Title: Differences in Thymus and Activation-Regulated Chemokine and Squamous Cell Carcinoma Antigen 2 Levels in Food Protein-Induced Enterocolitis Syndrome and Atopic Dermatitis.
Evaluation of squamous cell carcinoma antigen 1 expression in oral squamous cell carcinoma (tumor cells and peritumoral T-lymphocytes) and verrucous carcinoma and comparison with normal oral mucosa.
Title: Evaluation of squamous cell carcinoma antigen 1 expression in oral squamous cell carcinoma (tumor cells and peritumoral T-lymphocytes) and verrucous carcinoma and comparison with normal oral mucosa.
Clinical Significance of Serum Squamous Cell Carcinoma Antigen for Patients with Recurrent Esophageal Squamous Cell Carcinoma.
Title: Clinical Significance of Serum Squamous Cell Carcinoma Antigen for Patients with Recurrent Esophageal Squamous Cell Carcinoma.
Measurement of squamous cell carcinoma antigen 2 in lichen planus patients.
Title: Measurement of squamous cell carcinoma antigen 2 in lichen planus patients.
Serum SCCA1, SCCA2, periostin and TARC levels were all significantly increased in atopic dermatitis (AD) in Japanese Ishigaki cohort compared with those in non-AD, but only serum SCCA2 showed a significant increase in AD when assessed in each age group or in subgroup analysis and showed the best diagnosability for AD in ROC analysis.
Title: Serum squamous cell carcinoma antigen (SCCA)-2 correlates with clinical severity of pediatric atopic dermatitis in Ishigaki cohort.
Studied association of progastrin-releasing peptide (proGRP), neuron specific enolase (NSE), chromogranin a (CgA), and squamous cell cancer antigen (SCCA1) in pulmonary neuroendocrine tumor (PNET) and non-small-cell lung carcinoma (NSCLC). Results showed ProGRP can distinguish PNET patients from NSCLC patients, and with adjusted NSE values, it can differentiate the PNET group from the benign disease group.
Title: Clinical significance of progastrin-releasing peptide, neuron-specific enolase, chromogranin a, and squamous cell cancer antigen in pulmonary neuroendocrine tumors.
serum SCCA can not only be used in diagnosis and prognosis of squamous cell carcinomas but also as biomarkers for uremia, azotemia, diabetic nephropathy, and nephritic syndrome.
Title: Serum SCCA levels in patients suffering cancers or other diseases.
this study shows that SERPINB4 contributes to survival of allergenic TH2 cells
Title: Antiapoptotic serine protease inhibitors contribute to survival of allergenic T(H)2 cells.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD05659 (e-PCR)
- UniSTS:286722

ECD01269 (e-PCR)
- UniSTS:282376

G15930 (e-PCR)
- UniSTS:60179

ECD19313 (e-PCR)
- UniSTS:300320

RH123576 (e-PCR)
- UniSTS:135996

RH71207 (e-PCR)
- UniSTS:37445

ECD01075 (e-PCR)
- UniSTS:282182

ECD04703 (e-PCR)
- UniSTS:285774

ECD12688 (e-PCR)
- UniSTS:293721

REN10653 (e-PCR)
- UniSTS:335453

REN10654 (e-PCR)
- UniSTS:335454

REN10655 (e-PCR)
- UniSTS:335455

ECD01357 (e-PCR)
- UniSTS:282463

REN10656 (e-PCR)
- UniSTS:335456

REN10657 (e-PCR)
- UniSTS:335457

REN10658 (e-PCR)
- UniSTS:335458

REN10659 (e-PCR)
- UniSTS:335459

REN10660 (e-PCR)
- UniSTS:335460

REN10661 (e-PCR)
- UniSTS:335461

REN10662 (e-PCR)
- UniSTS:335462

REN10663 (e-PCR)
- UniSTS:335463

REN10664 (e-PCR)
- UniSTS:335464

REN10665 (e-PCR)
- UniSTS:335465

REN10666 (e-PCR)
- UniSTS:335466

REN10667 (e-PCR)
- UniSTS:335467

REN10668 (e-PCR)
- UniSTS:335468

REN10669 (e-PCR)
- UniSTS:335469

REN10670 (e-PCR)
- UniSTS:335470

REN10671 (e-PCR)
- UniSTS:335471

REN10672 (e-PCR)
- UniSTS:335472

REN10673 (e-PCR)
- UniSTS:335473

REN10674 (e-PCR)
- UniSTS:335474

REN10675 (e-PCR)
- UniSTS:335475

REN10676 (e-PCR)
- UniSTS:335476

REN10677 (e-PCR)
- UniSTS:335477

REN10678 (e-PCR)
- UniSTS:335478

REN10679 (e-PCR)
- UniSTS:335479

REN10680 (e-PCR)
- UniSTS:335480

REN10681 (e-PCR)
- UniSTS:335481

REN10682 (e-PCR)
- UniSTS:335482

REN10683 (e-PCR)
- UniSTS:335483

REN10684 (e-PCR)
- UniSTS:335484

REN10685 (e-PCR)
- UniSTS:335485

REN10686 (e-PCR)
- UniSTS:335486

REN10687 (e-PCR)
- UniSTS:335487

REN10688 (e-PCR)
- UniSTS:335488

ECD01651 (e-PCR)
- UniSTS:282752

REN10689 (e-PCR)
- UniSTS:335489

REN10690 (e-PCR)
- UniSTS:335490

REN10691 (e-PCR)
- UniSTS:335491

ECD20198 (e-PCR)
- UniSTS:301202

ECD21747 (e-PCR)
- UniSTS:302740

D18S86 (e-PCR)
- UniSTS:147627

REN10732 (e-PCR)
- UniSTS:335532

REN10735 (e-PCR)
- UniSTS:335535

ECD14338 (e-PCR)
- UniSTS:295359

REN10753 (e-PCR)
- UniSTS:335553

REN10755 (e-PCR)
- UniSTS:335555

REN10756 (e-PCR)
- UniSTS:335556

REN10757 (e-PCR)
- UniSTS:335557

REN10758 (e-PCR)
- UniSTS:335558

REN10759 (e-PCR)
- UniSTS:335559

REN10760 (e-PCR)
- UniSTS:335560

REN10764 (e-PCR)
- UniSTS:335564

REN10765 (e-PCR)
- UniSTS:335565

REN10767 (e-PCR)
- UniSTS:335567

RH17905 (e-PCR)
- UniSTS:82383

ECD06913 (e-PCR)
- UniSTS:287971

ECD23654 (e-PCR)
- UniSTS:304638

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase inhibitor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of peptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in protection from natural killer cell mediated cytotoxicity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of proteolysis	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: serpin B4

Names: SCCA2/SCCA1 fusion protein; peptidase inhibitor 11; protease inhibitor (leucine-serpin); serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4; serpin peptidase inhibitor, clade B (ovalbumin), member 4; squamous cell carcinoma antigen 1; squamous cell carcinoma antigen 2

NCBI Reference Sequences (RefSeq)

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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

NG_053001.1 RefSeqGene

Range

5064..12061

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002974.4 → NP_002965.1 serpin B4 isoform 1

See identical proteins and their annotated locations for NP_002965.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC017401, BU676816

Consensus CDS

CCDS11986.1

UniProtKB/Swiss-Prot

A8K847, P48594

UniProtKB/TrEMBL

Q86W05

Related

ENSP00000343445.5, ENST00000341074.10

Conserved Domains (1) summary

cl00137
Location:4 → 390

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 ...
NM_175041.2 → NP_778206.1 serpin B4 isoform 2

See identical proteins and their annotated locations for NP_778206.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AB046400, AK292212, BU676816

UniProtKB/TrEMBL

H0Y5H9, Q9BYF7

Related

ENSP00000398645.1, ENST00000413673.5

Conserved Domains (1) summary

cl00137
Location:4 → 369

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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

63637259..63644256 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011526138.2 → XP_011524440.1 serpin B4 isoform X1

See identical proteins and their annotated locations for XP_011524440.1

UniProtKB/Swiss-Prot

A8K847, P48594

UniProtKB/TrEMBL

Q86W05

Conserved Domains (1) summary

cl00137
Location:4 → 390

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 ...