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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]
SERPINB4 (Serpin Family B Member 4) is a Protein Coding gene. Diseases associated with SERPINB4 include Squamous Cell Carcinoma and Maxillary Sinus Inverted Papilloma. Among its related pathways are Amoebiasis. Gene Ontology (GO) annotations related to this gene include enzyme binding and protease binding. An important paralog of this gene is SERPINB3.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH18J063644 | Promoter/Enhancer | 0.5 | EPDnew Ensembl | 250.7 | -0.3 | -291 | 1.6 | SERPINB4 lnc-SERPINB3-4 SERPINB3 HSALNG0122061 SERPINB11 | ||
GH18J063641 | Enhancer | 0.4 | Ensembl | 0.7 | +2.9 | 2909 | 0.8 | CEBPB EP300 STAT3 JUND | SERPINB3 SERPINB4 lnc-SERPINB3-4 HSALNG0122060 SERPINB13 | |
GH18J063603 | Enhancer | 0.5 | ENCODE | 0.3 | +39.8 | 39833 | 2.6 | BCL11A IRF4 JUND BATF ATF2 JUNB USF1 ZFHX2 | SERPINB11 HSALNG0122058 piR-38351-233 SERPINB13 SERPINB4 | |
GH18J063616 | Enhancer | 0.3 | Ensembl | 0.3 | +27.2 | 27209 | 0.6 | JUNB MTA2 | HSALNG0122058 piR-42002-003 RF00998-063 SERPINB4 SERPINB13 | |
GH18J063588 | Enhancer | 0.5 | Ensembl | 0.2 | +54.2 | 54198 | 3 | CEBPB SPI1 POLR2A MYC MAX | SERPINB11 SERPINB12 SERPINB7 SERPINB10 SERPINB13 piR-38351-233 SERPINB4 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IPI | 21857942 |
GO:0004867 | serine-type endopeptidase inhibitor activity | IBA,NAS | 7589435 |
GO:0019899 | enzyme binding | IPI | 23382074 |
GO:0030414 | peptidase inhibitor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IEA,IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Amoebiasis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0010466 | negative regulation of peptidase activity | IEA,IDA | 12949073 |
GO:0010951 | negative regulation of endopeptidase activity | IBA | 21873635 |
GO:0030162 | regulation of proteolysis | NAS | 7589435 |
GO:0042270 | protection from natural killer cell mediated cytotoxicity | IMP | 21857942 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SERPINB4 30 |
|
||
Dog (Canis familiaris) |
Mammalia | SERPINB4 30 |
|
||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | LOC100337240 30 |
|
||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
SERPINB4 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | Serpinb3a 30 17 31 |
|
ManyToMany | |
Serpinb3d 31 |
|
ManyToMany | |||
Serpinb3b 31 |
|
ManyToMany | |||
Serpinb3c 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Serpinb3a 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | OVALY 30 31 |
|
ManyToMany | |
SERPINB14 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100490314 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Spn42Dd 30 |
|
||
Spn4 32 |
|
|
|||
Spn1 32 |
|
|
|||
CG9455 32 |
|
|
|||
Spn2 32 |
|
|
|||
Spn6 32 |
|
|
|||
serpin-27A 32 |
|
|
|||
CG9460 32 |
|
|
|||
Spn3 32 |
|
|
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Spn43Aa 32 |
|
|
|||
CG6717 32 |
|
|
|||
Spn5 32 |
|
|
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CG7722 32 |
|
|
|||
nec 32 |
|
|
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CG6687 32 |
|
|
|||
Spn43Ab 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | srp-5 30 |
|
||
srp-7 32 |
|
|
|||
srp-1 32 |
|
|
|||
srp-6 32 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SRP3 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0610700 30 |
|
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs193921093 | Uncertain Significance: Malignant tumor of prostate | 63,639,770(-) |
A/T NM_002974.4(SERPINB4):c.476T>A (p.Ile159Asn) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv621e214 | CNV | loss | 21293372 |
dgv994e212 | CNV | loss | 25503493 |
esv2313855 | CNV | deletion | 18987734 |
esv2717205 | CNV | deletion | 23290073 |
esv3642777 | CNV | loss | 21293372 |
esv3642778 | CNV | loss | 21293372 |
esv3642779 | CNV | gain | 21293372 |
nsv1066552 | CNV | gain | 25217958 |
nsv833672 | CNV | gain | 17160897 |
nsv978638 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
squamous cell carcinoma |
|
|
maxillary sinus inverted papilloma |
|
|
maxillary sinus benign neoplasm |
|
|
inverted papilloma |
|
|
acute frontal sinusitis |
|
|