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Aliases for SERPINB6 Gene

Aliases for SERPINB6 Gene

  • Serpin Family B Member 6 2 3 5
  • Cytoplasmic Antiproteinase 2 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade B (Ovalbumin), Member 6 2 3
  • Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 6 2 3
  • PI-6 3 4
  • CAP 3 4
  • PI6 3 4
  • PTI 3 4
  • Protease Inhibitor 6 (Placental Thrombin Inhibitor) 3
  • Deafness, Autosomal Recessive 91 2
  • Placental Thrombin Inhibitor 4
  • Peptidase Inhibitor 6 4
  • Serpin B6 3
  • MSTP057 3
  • DFNB91 3
  • SPI3 3

External Ids for SERPINB6 Gene

Previous HGNC Symbols for SERPINB6 Gene

  • PI6
  • DFNB91

Previous GeneCards Identifiers for SERPINB6 Gene

  • GC06M002933
  • GC06M002893
  • GC06M002821

Summaries for SERPINB6 Gene

Entrez Gene Summary for SERPINB6 Gene

  • 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]

GeneCards Summary for SERPINB6 Gene

SERPINB6 (Serpin Family B Member 6) is a Protein Coding gene. Diseases associated with SERPINB6 include Deafness, Autosomal Recessive 91 and Dfna91 Nonsyndromic Hearing Loss And Deafness. Among its related pathways are Innate Immune System and Ectoderm Differentiation. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and protease binding. An important paralog of this gene is SERPINB8.

UniProtKB/Swiss-Prot for SERPINB6 Gene

  • May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss.

Gene Wiki entry for SERPINB6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINB6 Gene

Genomics for SERPINB6 Gene

Regulatory Elements for SERPINB6 Gene


Enhancers around SERPINB6 on UCSC Golden Path with GeneCards custom track

Promoters for SERPINB6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000192154 765 1601 HDGF CREB3L1 ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 KLF13

Genomic Location for SERPINB6 Gene

Chromosome:
6
Start:
2,948,159 bp from pter
End:
2,972,165 bp from pter
Size:
24,007 bases
Orientation:
Minus strand

Genomic View for SERPINB6 Gene

Genes around SERPINB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINB6 Gene

Proteins for SERPINB6 Gene

  • Protein details for SERPINB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35237-SPB6_HUMAN
    Recommended name:
    Serpin B6
    Protein Accession:
    P35237
    Secondary Accessions:
    • B2RBA8
    • Q59F97
    • Q5TD06
    • Q7Z2Y7
    • Q96J44
    • Q9UDI7

    Protein attributes for SERPINB6 Gene

    Size:
    376 amino acids
    Molecular mass:
    42622 Da
    Quaternary structure:
    • Forms a complex with the monomeric form of beta-tryptase.
    SequenceCaution:
    • Sequence=BAD92800.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD98106.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SERPINB6 Gene

Post-translational modifications for SERPINB6 Gene

  • Ubiquitination at isoforms=252 and Lys314
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for SERPINB6

Assay Products

  • Cloud-Clone Corp Assay Kits for SERPINB6

No data available for DME Specific Peptides for SERPINB6 Gene

Domains & Families for SERPINB6 Gene

Protein Domains for SERPINB6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINB6 Gene

Graphical View of Domain Structure for InterPro Entry

P35237

UniProtKB/Swiss-Prot:

SPB6_HUMAN :
  • Belongs to the serpin family. Ov-serpin subfamily.
Family:
  • Belongs to the serpin family. Ov-serpin subfamily.
genes like me logo Genes that share domains with SERPINB6: view

Function for SERPINB6 Gene

Molecular function for SERPINB6 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss.

Gene Ontology (GO) - Molecular Function for SERPINB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 14670919
GO:0004867 serine-type endopeptidase inhibitor activity IDA,TAS 17761692
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINB6: view
genes like me logo Genes that share phenotypes with SERPINB6: view

Human Phenotype Ontology for SERPINB6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SERPINB6 Gene

MGI Knock Outs for SERPINB6:

Animal Model Products

  • Taconic Biosciences Mouse Models for SERPINB6

CRISPR Products

miRNA for SERPINB6 Gene

miRTarBase miRNAs that target SERPINB6

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SERPINB6 Gene

Localization for SERPINB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINB6 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINB6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
cytoskeleton 3
nucleus 3
endoplasmic reticulum 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SERPINB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA,IBA --
GO:0005634 NOT nucleus IDA 14670919
GO:0005737 cytoplasm IDA,IEA 14670919
GO:0005829 cytosol TAS 8415716
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with SERPINB6: view

Pathways & Interactions for SERPINB6 Gene

genes like me logo Genes that share pathways with SERPINB6: view

Pathways by source for SERPINB6 Gene

1 BioSystems pathway for SERPINB6 Gene
1 KEGG pathway for SERPINB6 Gene

Gene Ontology (GO) - Biological Process for SERPINB6 Gene

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
genes like me logo Genes that share ontologies with SERPINB6: view

No data available for SIGNOR curated interactions for SERPINB6 Gene

Drugs & Compounds for SERPINB6 Gene

(2) Drugs for SERPINB6 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Drotrecogin alfa Approved, Investigational, Withdrawn Pharma Target 0

(1) Additional Compounds for SERPINB6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINB6: view

Transcripts for SERPINB6 Gene

Unigene Clusters for SERPINB6 Gene

Serpin peptidase inhibitor, clade B (ovalbumin), member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINB6 Gene

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:

Relevant External Links for SERPINB6 Gene

GeneLoc Exon Structure for
SERPINB6
ECgene alternative splicing isoforms for
SERPINB6

Expression for SERPINB6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SERPINB6 Gene

Protein differential expression in normal tissues from HIPED for SERPINB6 Gene

This gene is overexpressed in Pancreatic juice (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SERPINB6 Gene



Protein tissue co-expression partners for SERPINB6 Gene

NURSA nuclear receptor signaling pathways regulating expression of SERPINB6 Gene:

SERPINB6

SOURCE GeneReport for Unigene cluster for SERPINB6 Gene:

Hs.519523

mRNA Expression by UniProt/SwissProt for SERPINB6 Gene:

P35237-SPB6_HUMAN
Tissue specificity: Expressed in keratinocytes (at protein level). Highest levels in skeletal muscle. Also found in placenta, cardiac muscle, lung, liver, kidney and pancreas. Expressed in the inner ear hair cells. Expressed abundantly by normal mast cells in different tissues and by mast cells in mastocytoma lesions.

Evidence on tissue expression from TISSUES for SERPINB6 Gene

  • Nervous system(4.9)
  • Intestine(4.7)
  • Liver(4.6)
  • Lung(4)
  • Muscle(4)
  • Pancreas(3.1)
  • Eye(2.8)
  • Skin(2.8)
  • Kidney(2.6)
  • Stomach(2.6)
  • Heart(2.5)
  • Spleen(2.5)
  • Adrenal gland(2.4)
  • Blood(2.3)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINB6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with SERPINB6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SERPINB6 Gene

Orthologs for SERPINB6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINB6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERPINB6 34 35
  • 97.78 (n)
dog
(Canis familiaris)
Mammalia SERPINB6 34 35
  • 80.22 (n)
mouse
(Mus musculus)
Mammalia Serpinb6a 34 16 35
  • 79.43 (n)
Serpinb6b 35
  • 72 (a)
OneToMany
Serpinb6c 35
  • 68 (a)
OneToMany
Serpinb6d 35
  • 59 (a)
OneToMany
Serpinb6e 35
  • 51 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Serpinb6 34
  • 78.9 (n)
cow
(Bos Taurus)
Mammalia LOC617406 34
  • 77.66 (n)
-- 35
  • 76 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 55 (a)
OneToMany
-- 35
  • 52 (a)
OneToMany
-- 35
  • 45 (a)
OneToMany
-- 35
  • 42 (a)
OneToMany
chicken
(Gallus gallus)
Aves SERPINB6 34
  • 67.2 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia serpinb6 34
  • 62.91 (n)
zebrafish
(Danio rerio)
Actinopterygii serpinb1l4 34
  • 61.11 (n)
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11177 34
fruit fly
(Drosophila melanogaster)
Insecta Spn6 36
  • 34 (a)
Spn1 36
  • 33 (a)
Spn3 36
  • 33 (a)
Spn43Aa 36
  • 33 (a)
CG9455 36
  • 32 (a)
Spn2 36
  • 32 (a)
CG9460 36
  • 30 (a)
nec 36
  • 30 (a)
CG6687 36
  • 29 (a)
CG6717 36
  • 29 (a)
Spn5 36
  • 29 (a)
Spn43Ab 36
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea srp-6 36
  • 30 (a)
srp-7 36
  • 30 (a)
srp-1 36
  • 28 (a)
Species where no ortholog for SERPINB6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SERPINB6 Gene

ENSEMBL:
Gene Tree for SERPINB6 (if available)
TreeFam:
Gene Tree for SERPINB6 (if available)

Paralogs for SERPINB6 Gene

Variants for SERPINB6 Gene

Sequence variations from dbSNP and Humsavar for SERPINB6 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs267607037 Pathogenic 2,948,696(-) AGGTG(G/T)AGAAA reference, stop-gained
rs144895010 Likely benign 2,948,935(+) GTCTC(A/G)TCCGG reference, synonymous-codon
rs145397970 Likely benign 2,948,334(+) ATCCC(A/G)TTGGT reference, synonymous-codon
rs145538358 Likely benign 2,959,233(+) GGACA(C/T)GCTCA intron-variant, reference, missense
rs146252067 Likely benign 2,954,643(+) CTCTA(C/T)GGCGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SERPINB6 Gene

Variant ID Type Subtype PubMed ID
nsv1018369 CNV loss 25217958
nsv1145088 CNV deletion 24896259
nsv437477 CNV loss 16327808
nsv600832 CNV loss 21841781
nsv600833 CNV loss 21841781
nsv830575 CNV loss 17160897
nsv950760 CNV deletion 24416366
nsv956956 CNV deletion 24416366

Variation tolerance for SERPINB6 Gene

Residual Variation Intolerance Score: 58.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.98; 49.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SERPINB6 Gene

Human Gene Mutation Database (HGMD)
SERPINB6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINB6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINB6 Gene

Disorders for SERPINB6 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SERPINB6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 91
  • autosomal recessive nonsyndromic deafness 91
dfna91 nonsyndromic hearing loss and deafness
  • deafness, autosomal recessive 91
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
sensorineural hearing loss
  • central hearing loss
gnathomiasis
  • gnathostomiasis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPB6_HUMAN
  • Deafness, autosomal recessive, 91 (DFNB91) [MIM:613453]: A form of non-syndromic deafness characterized by progressive and age-dependent sensorineural hearing loss. Vestibular function is normal. {ECO:0000269 PubMed:20451170}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SERPINB6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPINB6
genes like me logo Genes that share disorders with SERPINB6: view

No data available for Genatlas for SERPINB6 Gene

Publications for SERPINB6 Gene

  1. Cloning and molecular characterization of a human intracellular serine proteinase inhibitor. (PMID: 8415716) Coughlin P. … Bird P. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 3 4 22 64
  2. A truncating mutation in SERPINB6 is associated with autosomal- recessive nonsyndromic sensorineural hearing loss. (PMID: 20451170) Sirmaci A. … Tekin M. (Am. J. Hum. Genet. 2010) 2 3 4 64
  3. SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes. (PMID: 17761692) Scott F.L. … Bird P.I. (J. Biochem. 2007) 3 4 22 64
  4. Intracellular serpin SERPINB6 (PI6) is abundantly expressed by human mast cells and forms complexes with beta-tryptase monomers. (PMID: 14670919) Strik M.C. … Kummer J.A. (Blood 2004) 3 4 22 64
  5. A serpin gene cluster on human chromosome 6p25 contains PI6, PI9 and ELANH2 which have a common structure almost identical to the 18q21 ovalbumin serpin genes. (PMID: 9858835) Sun J. … Bird P.I. (Cytogenet. Cell Genet. 1998) 2 3 22 64

Products for SERPINB6 Gene

Sources for SERPINB6 Gene

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