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Aliases for SERPINB6 Gene

Aliases for SERPINB6 Gene

  • Serpin Family B Member 6 2 3
  • Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 6 2 3 5
  • Cytoplasmic Antiproteinase 2 3 4
  • Serine (Or Cysteine) Proteinase 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
  • 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 Amoebiasis and Dissolution of Fibrin Clot. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and protease binding. An important paralog of this gene is SERPINB12.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINB6 Gene

Genomics for SERPINB6 Gene

Regulatory Elements for SERPINB6 Gene

Enhancers for SERPINB6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around SERPINB6 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for SERPINB6 Gene at MOPED

Post-translational modifications for SERPINB6 Gene

  • Ubiquitination at Lys 252 and Lys 314
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SERPINB6 Gene

Domains & Families for SERPINB6 Gene

Gene 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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SERPINB6 Gene COMPARTMENTS Subcellular localization image for SERPINB6 gene
Compartment Confidence
cytosol 5
extracellular 5
cytoskeleton 3
nucleus 3
endoplasmic reticulum 2
mitochondrion 2
plasma membrane 2
chloroplast 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SERPINB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 14670919
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

2 Reactome pathways for SERPINB6 Gene
1 KEGG pathway for SERPINB6 Gene

Gene Ontology (GO) - Biological Process for SERPINB6 Gene

None

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:

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 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, MOPED, and MaxQB for SERPINB6 Gene



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.
genes like me logo Genes that share expression patterns with SERPINB6: view

Protein tissue co-expression partners for SERPINB6 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia LOC617406 35
  • 77.66 (n)
  • 77.13 (a)
-- 36
  • 76 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SERPINB6 35
  • 80.22 (n)
  • 77.2 (a)
SERPINB6 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serpinb6a 35
  • 79.43 (n)
  • 76.35 (a)
Serpinb6a 16
Serpinb6a 36
  • 72 (a)
OneToMany
Serpinb6b 36
  • 72 (a)
OneToMany
Serpinb6c 36
  • 68 (a)
OneToMany
Serpinb6d 36
  • 59 (a)
OneToMany
Serpinb6e 36
  • 51 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia SERPINB6 35
  • 97.78 (n)
  • 96.77 (a)
SERPINB6 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Serpinb6 35
  • 78.9 (n)
  • 73.94 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 55 (a)
OneToMany
-- 36
  • 52 (a)
OneToMany
-- 36
  • 45 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves SERPINB6 35
  • 67.2 (n)
  • 60.86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia serpinb6 35
  • 62.91 (n)
  • 61.66 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
serpinb1l4 35
  • 61.11 (n)
  • 54.03 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11177 35
fruit fly
(Drosophila melanogaster)
Insecta CG6687 37
  • 29 (a)
CG6717 37
  • 29 (a)
CG9455 37
  • 32 (a)
CG9460 37
  • 30 (a)
nec 37
  • 30 (a)
Spn1 37
  • 33 (a)
Spn2 37
  • 32 (a)
Spn3 37
  • 33 (a)
Spn43Aa 37
  • 33 (a)
Spn43Ab 37
  • 27 (a)
Spn5 37
  • 29 (a)
Spn6 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea srp-1 37
  • 28 (a)
srp-6 37
  • 30 (a)
srp-7 37
  • 30 (a)
Species with no ortholog for SERPINB6:
  • 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

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

Variants for SERPINB6 Gene

Sequence variations from dbSNP and Humsavar for SERPINB6 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs2295769 - 2,955,568(+) GGCCA(C/T)CCTAA reference, missense
rs2295766 - 2,953,160(+) TGAGC(C/T)CGGAG reference, missense
rs1040858 -- 2,954,385(-) TCCCT(A/G)TTTCC intron-variant
rs1047315 -- 2,949,040(-) ATGTT(C/G/T)AAGCA reference, synonymous-codon, missense
rs1125455 -- 2,970,141(-) AGACC(A/G)CACAC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv830575 CNV Loss 17160897
nsv883396 CNV Loss 21882294
nsv883398 CNV Loss 21882294
nsv437477 CNV Loss 16327808
dgv6429n71 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
SERPINB6
Human Gene Mutation Database (HGMD)
SERPINB6

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

Disorders for SERPINB6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 91
  • deafness, autosomal recessive, 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
hyperlipoproteinemia type iii
  • carbohydrate induced hyperlipemia
- 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 23 67
  2. 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 23
  3. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C. … Vasiliou V. (Hum. Genomics 2013) 2 3
  4. 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
  5. SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes. (PMID: 17761692) Scott F.L. … Bird P.I. (J. Biochem. 2007) 3 23

Products for SERPINB6 Gene

Sources for SERPINB6 Gene

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