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The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
SERPINB6 (Serpin Family B Member 6) is a Protein Coding gene. Diseases associated with SERPINB6 include Deafness, Autosomal Recessive 91 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Dissolution of Fibrin Clot and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and protease binding. An important paralog of this gene is SERPINB8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IPI | 14670919 |
GO:0004867 | serine-type endopeptidase inhibitor activity | IDA | 17761692 |
GO:0030414 | peptidase inhibitor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA | 27068509 |
GO:0005615 | extracellular space | IEA,IBA | 21873635 |
GO:0005634 | NOT nucleus | IDA | 14670919 |
GO:0005737 | cytoplasm | IBA,IDA | 14670919 |
GO:0005829 | cytosol | TAS | 8415716 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
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|
2 | Amoebiasis | ||
3 | Dissolution of Fibrin Clot | ||
4 | Response to elevated platelet cytosolic Ca2+ |
.44
|
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5 | Ectoderm Differentiation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007605 | sensory perception of sound | IMP | 20451170 |
GO:0010466 | negative regulation of peptidase activity | IEA | -- |
GO:0010951 | negative regulation of endopeptidase activity | IDA | 17761692 |
GO:0043312 | neutrophil degranulation | TAS | -- |
GO:0071470 | cellular response to osmotic stress | IMP | 20451170 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Drotrecogin alfa | Approved, Investigational, Withdrawn | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP17: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP18: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
ExUns: | 13a | · | 13b | · | 13c | · | 13d | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c | · | 15d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | - | ||||||||||||||||||
SP3: | - | ||||||||||||||||||
SP4: | - | ||||||||||||||||||
SP5: | - | ||||||||||||||||||
SP6: | - | ||||||||||||||||||
SP7: | - | ||||||||||||||||||
SP8: | - | ||||||||||||||||||
SP9: | - | ||||||||||||||||||
SP10: | - | ||||||||||||||||||
SP11: | - | ||||||||||||||||||
SP12: | |||||||||||||||||||
SP13: | - | ||||||||||||||||||
SP14: | |||||||||||||||||||
SP15: | |||||||||||||||||||
SP16: | |||||||||||||||||||
SP17: | |||||||||||||||||||
SP18: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SERPINB6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SERPINB6 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Serpinb6a 30 17 31 |
|
OneToMany | |
Serpinb6b 31 |
|
OneToMany | |||
Serpinb6c 31 |
|
OneToMany | |||
Serpinb6d 31 |
|
OneToMany | |||
Serpinb6e 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Serpinb6 30 |
|
||
Cow (Bos Taurus) |
Mammalia | LOC617406 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | SERPINB6 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | serpinb6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | serpinb1l4 30 |
|
||
-- 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11177 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Spn6 32 |
|
|
|
Spn1 32 |
|
|
|||
Spn3 32 |
|
|
|||
Spn43Aa 32 |
|
|
|||
CG9455 32 |
|
|
|||
Spn2 32 |
|
|
|||
CG9460 32 |
|
|
|||
nec 32 |
|
|
|||
CG6687 32 |
|
|
|||
CG6717 32 |
|
|
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Spn5 32 |
|
|
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Spn43Ab 32 |
|
|
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Worm (Caenorhabditis elegans) |
Secernentea | srp-6 32 |
|
|
|
srp-7 32 |
|
|
|||
srp-1 32 |
|
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
666752 | Likely Benign: not specified | 2,955,605(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
667324 | Uncertain Significance: not specified | 2,948,483(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
667325 | Uncertain Significance: not specified | 2,954,639(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
668206 | Likely Benign: not provided | 2,948,319(-) | G/A | SYNONYMOUS_VARIANT | |
677156 | Likely Benign: not provided | 2,968,782(-) | G/C | FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 91 |
|
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autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
sensorineural hearing loss |
|
|