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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 (Serpin Family B Member 7) is a Protein Coding gene. Diseases associated with SERPINB7 include Palmoplantar Keratoderma, Nagashima Type and Palmoplantar Keratosis. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINB11.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH18J063774 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE dbSUPER | 261.7 | +24.7 | 24671 | 6.7 | CEBPB EP300 RFX5 JUND POLR2A FOS | SERPINB7 SERPINB10 piR-32023-098 HSALNG0122068-001 SERPINB2 | |
GH18J063753 | Promoter | 0.3 | EPDnew | 250.7 | +0.1 | 103 | 0.1 | SERPINB7 MK280144-310 SERPINB2 | ||
GH18J063680 | Enhancer | 0.9 | FANTOM5 ENCODE | 11.2 | -70.3 | -70281 | 3.4 | BRCA1 CEBPB FOXA2 MAX EP300 RXRA STAT3 TBP JUND USF2 | SERPINB3 SERPINB7 SERPINB12 SERPINB11 SERPINB5 HSALNG0122064 HSALNG0122061 | |
GH18J063730 | Enhancer | 0.7 | Ensembl ENCODE | 12.1 | -21.7 | -21735 | 1.2 | CEBPB MAX MAFF TBP TCF7L2 USF2 MAFK ZBTB12 USF1 | SERPINB7 SERPINB5 SERPINB11 SERPINB10 HSALNG0122065 lnc-SERPINB3-5 SERPINB3 | |
GH18J063588 | Enhancer | 0.5 | Ensembl | 9.6 | -162.8 | -162823 | 3 | CEBPB SPI1 POLR2A MYC MAX | SERPINB11 SERPINB12 SERPINB7 SERPINB10 SERPINB13 piR-38351-233 SERPINB4 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004867 | serine-type endopeptidase inhibitor activity | TAS,IBA | 21873635 |
GO:0030414 | peptidase inhibitor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0010466 | negative regulation of peptidase activity | IEA | -- |
GO:0010951 | negative regulation of endopeptidase activity | IBA | 21873635 |
GO:0032914 | positive regulation of transforming growth factor beta1 production | IEA | -- |
GO:0032967 | positive regulation of collagen biosynthetic process | IEA | -- |
GO:0072126 | positive regulation of glomerular mesangial cell proliferation | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SERPINB7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SERPINB7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SERPINB7 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Serpinb7 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Serpinb7 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SERPINB7 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Spn1 31 |
|
ManyToMany | |
Spn42De 31 |
|
ManyToMany | |||
Spn6 31 |
|
ManyToMany | |||
Spn5 32 |
|
|
|||
Spn42Dc 31 |
|
ManyToMany | |||
Spn3 31 |
|
ManyToMany | |||
Spn2 31 |
|
ManyToMany | |||
Spn7 31 |
|
ManyToMany | |||
Spn43Aa 31 |
|
ManyToMany | |||
Spn4 31 |
|
ManyToMany | |||
Spn47C 31 |
|
ManyToMany | |||
Spn42Db 31 |
|
ManyToMany | |||
Spn28Da 31 |
|
ManyToMany | |||
Spn28Db 31 |
|
ManyToMany | |||
Spn43Ab 31 |
|
ManyToMany | |||
nec 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | srp-6 32 |
|
|
|
srp-7 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
871598 | Uncertain Significance: not provided | 63,804,478(+) |
T/G NM_003784.4(SERPINB7):c.986T>G (p.Val329Gly) |
MISSENSE | |
rs142859678 | Pathogenic: Palmoplantar keratoderma, nagashima type; not provided | 63,804,288(+) |
C/T NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) |
NONSENSE | |
rs201208667 | Uncertain Significance: not provided | 63,804,628(+) |
G/A NM_003784.4(SERPINB7):c.1136G>A (p.Cys379Tyr) |
MISSENSE | |
rs577442939 | Pathogenic: Palmoplantar keratoderma, nagashima type | 63,798,603(+) |
G/A NM_003784.4(SERPINB7):c.455-1G>A |
SPLICE_ACCEPTOR | |
rs672601344 | Pathogenic: Palmoplantar keratoderma, nagashima type; not provided | 63,798,670(+) |
C/CT NM_003784.4(SERPINB7):c.522dup (p.Val175fs) |
FRAMESHIFT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1109412 | CNV | insertion | 17803354 |
esv21739 | CNV | gain | 19812545 |
esv3642781 | CNV | gain | 21293372 |
esv3893113 | CNV | gain | 25118596 |
nsv1066552 | CNV | gain | 25217958 |
nsv1138635 | CNV | deletion | 24896259 |
nsv833672 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
palmoplantar keratoderma, nagashima type |
|
|
palmoplantar keratosis |
|
|
serpinopathy |
|
|
keratosis |
|
|
subacute glomerulonephritis |
|
|