Free for academic non-profit institutions. Other users need a Commercial license
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 ... See more...
Aliases for SERPINB6 Gene
Aliases for SERPINB6 Gene
External Ids for SERPINB6 Gene
- HGNC: 8950
- Entrez Gene: 5269
- Ensembl: ENSG00000124570
- OMIM: 173321
- UniProtKB: P35237
Previous HGNC Symbols for SERPINB6 Gene
- PI6
- DFNB91
Previous GeneCards Identifiers for SERPINB6 Gene
- GC06M002933
- GC06M002893
- GC06M002821
Summaries 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 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.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for SERPINB6 Gene
- HGNC(8950)
- Entrez Gene(5269)
- Ensembl(ENSG00000124570)
- OMIM(173321)
- UniProtKB(P35237)
- Open Targets Platform(ENSG00000124570)
- Monarch Initiative
- Search for SERPINB6 at DataMed
- Search for SERPINB6 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINB6 Gene
Genomics for SERPINB6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SERPINB6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SERPINB6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINB6
- Top Transcription factor binding sites by QIAGEN in the SERPINB6 gene promoter:
-
- AP-1
- ATF
- ATF-2
- c-Jun
- E2F
- E2F-1
- E2F-2
- E2F-3a
- Sp1
Genomic Locations for SERPINB6 Gene
Genomic Locations for SERPINB6 Gene
- chr6:2,948,159-2,972,165
- (GRCh38/hg38)
- Size:
- 24,007 bases
- Orientation:
- Minus strand
- chr6:2,948,393-2,972,399
- (GRCh37/hg19)
- 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:
-
- 6p25.2 by HGNC
- 6p25.2 by Entrez Gene
- 6p25.2 by Ensembl
SERPINB6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for SERPINB6 Gene
Post-translational modifications for SERPINB6 Gene
Other Protein References for SERPINB6 Gene
- ENSEMBL proteins:
-
- ENSP00000369896
- ENSP00000369901
- ENSP00000369912
- ENSP00000369919
- ENSP00000493936
- ENSP00000497149
- ENSP00000496073
- ENSP00000484343
- ENSP00000481398
- ENSP00000494161
- ENSP00000494650
- ENSP00000369891
- ENSP00000495362
- ENSP00000495361
- ENSP00000495086
- ENSP00000496225
- ENSP00000494217
- ENSP00000496341
- ENSP00000494453
- ENSP00000494783
- ENSP00000494930
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ SERPINB6 Antibody
- Novus Biologicals Antibodies for SERPINB6
- Invitrogen Antibodies for SERPINB6 (AFLGC-SERPINB6)
-
Biorbyt antibodies for SERPINB6
-
Santa Cruz Biotechnology (SCBT) Antibodies for SERPINB6
- Sino Biological Antibodies for SERPINB6
Protein Products
- G Biosciences Human Serpin B6, Lyophilized
- Search Origene for MassSpec and Protein Over-expression Lysates for SERPINB6
- Origene Custom Protein Services for SERPINB6
- Sino Biological Recombinant Proteins for SERPINB6
- Sino Biological Cell Lysates for SERPINB6
-
ProSci Proteins for SERPINB6
-
Abcam proteins for SERPINB6
Assay Products
- G Biosciences Immunotag™ Human SERPINB6 (Serpin B6) ELISA and Immunotag™ Serpin B6 ELISA Kit
- RayBiotech Custom Human Serpin B6 ELISA
- antibodies-online: Show 17 available SERPINB6 Elisa Kits ranked by validation data
- Compare Top SERPINB6 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for SERPINB6
No data available for DME Specific Peptides for SERPINB6 Gene
Domains & Families for SERPINB6 Gene
Gene Families for SERPINB6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for SERPINB6 Gene
- InterPro:
- Blocks:
-
- Serpin
- ProtoNet:
Suggested Antigen Peptide Sequences for SERPINB6 Gene
- GenScript: Design optimal peptide antigens:
-
- Serpin peptidase inhibitor, clade B (Ovalbumin), member 6 (Q5TD02_HUMAN)
- Placental thrombin inhibitor (SPB6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P35237- Family:
-
- Belongs to the serpin family. Ov-serpin subfamily.
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.
Phenotypes From GWAS Catalog 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 | 17761692 |
| GO:0030414 | peptidase inhibitor activity | IEA | -- |
Phenotypes for SERPINB6 Gene
- MGI mutant phenotypes for SERPINB6:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SERPINB6:
Animal Models for SERPINB6 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SERPINB6 - Select products 50% OFF >
- * SERPINB6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SERPINB6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SERPINB6
-
Santa Cruz Biotechnology (SCBT) CRISPR for SERPINB6
miRNA for SERPINB6 Gene
- miRTarBase miRNAs that target SERPINB6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SERPINB6
- Browse OriGene Inhibitory RNA Products For SERPINB6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINB6
Clone Products
- Applied Biological Materials (abm): Clones for SERPINB6 - Select products 50% OFF >
- * SERPINB6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene ORF clones in human for SERPINB6
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SERPINB6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SERPINB6
Cell Line Products
-
Horizon Cell Lines for SERPINB6
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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| extracellular | 4 |
| cytoskeleton | 3 |
| nucleus | 3 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Centrosome (2)
| 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 |
Pathways & Interactions for SERPINB6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
| 2 | Amoebiasis | ||
| 3 | Dissolution of Fibrin Clot | ||
| 4 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 5 | Ectoderm Differentiation | ||
Pathways by source for SERPINB6 Gene
1 BioSystems pathway for SERPINB6 Gene
5 Reactome pathways for SERPINB6 Gene
1 KEGG pathway for SERPINB6 Gene
Interacting Proteins for SERPINB6 Gene
GPS-Prot Interaction Network for SERPINB6
| 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 |
No data available for SIGNOR curated interactions for SERPINB6 Gene
Drugs & Compounds for SERPINB6 Gene
| 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 |
|---|
Drug Products
- G Biosciences Human Serpin B6, Lyophilized
Transcripts for SERPINB6 Gene
mRNA/cDNA for SERPINB6 Gene
- 11 REFSEQ mRNAs :
- 30 NCBI additional mRNA sequence :
- 25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000380520 1313 nts (view in UCSC)
- ENST00000380524 1495 nts (view in UCSC)
- ENST00000380529 1370 nts (view in UCSC)
- ENST00000380539 1315 nts (view in UCSC)
- ENST00000380546 1375 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SERPINB6 - Select products 50% OFF >
- * SERPINB6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SERPINB6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SERPINB6
-
Santa Cruz Biotechnology (SCBT) CRISPR for SERPINB6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SERPINB6
- Browse OriGene Inhibitory RNA Products For SERPINB6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINB6
Clone Products
- Applied Biological Materials (abm): Clones for SERPINB6 - Select products 50% OFF >
- * SERPINB6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene ORF clones in human for SERPINB6
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SERPINB6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SERPINB6
| 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
Expression for SERPINB6 Gene
This gene is overexpressed in Pancreatic juice (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SERPINB6 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINB6
SOURCE GeneReport for Unigene cluster for SERPINB6 Gene:
Hs.519523mRNA 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(4.8)
- Liver(4.6)
- Muscle(4.2)
- Lung(4.1)
- Pancreas(3.4)
- Skin(3.4)
- Eye(3.4)
- Stomach(3.2)
- Heart(3.1)
- Kidney(2.9)
- Blood(2.8)
- Spleen(2.8)
- Adrenal gland(2.6)
- Thyroid gland(2.4)
- Bone(2.4)
- Lymph node(2.4)
- Gall bladder(2.2)
- Bone marrow(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINB6 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- head
- inner ear
- middle ear
- outer ear
- skull
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for SERPINB6
-
OriGene qPCR primer pairs and template standards for SERPINB6
Gene Expression 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.
| 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 |
|
|
|||
| Spn5 32 |
|
|
|||
| Spn43Ab 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | srp-6 32 |
|
|
|
| srp-7 32 |
|
|
|||
| srp-1 32 |
|
|
- Species where no ortholog for SERPINB6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for SERPINB6: view image
Paralogs for SERPINB6 Gene
Paralogs for SERPINB6 Gene
- SERPINB8 5
- SERPINB9 5
- SERPINB1 5
- SERPINB2 5
- SERPINB4 5
- SERPINB3 5
- SERPINB10 5
- SERPINB12 5
- SERPINB13 5
- SERPINB7 5
- SERPINB5 5
- SERPINI2 5
- SERPINC1 5
- SERPINA3 5
- SERPINI1 5
- SERPINB11 5
- SERPINA6 5
- SERPINA1 5
- SERPINA9 5
- SERPINA5 5
- SERPINA4 5
- SERPIND1 5
- SERPINA12 5
- SERPINE2 5
- SERPINE1 5
- SERPINA7 5
- SERPINA10 5
- SERPINA11 5
- SERPINF2 5
- SERPINE3 5
- SERPINH1 5
- SERPING1 5
- SERPINF1 5
- HMSD 5
- AGT 5
- SERPINA2 5
(37) SIMAP similar genes for SERPINB6 Gene using alignment to 1 proteins:
- SPB6_HUMAN
- SERPINB8
- SERPINB9
- DKFZp686O07189
- HMSD
- PLANH2
- SERPINB1
- SCCA1
- SERPINB11
- SERPINB3
- SERPINB10
- SCCA2
- SERPINB12
- SERPINB13
- SERPINB5
- SERPINA5
- SERPINB2
- SERPINB4
- SERPINI2
- DKFZp686D06190
- SERPINA1
- SERPINI1
- SERPINC1
- SERPINB7
- SERPINA3
- SERPINA12
- SERPINA9
- SERPINA6
- AT3
- SERPINE2
- SERPINH1
- SERPINA7
- SERPINA4
- SERPINE1
- SERPINA2
- SERPINA10
- SERPINA11
- ra-a47
Variants for SERPINB6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINB6 Gene
| 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 |
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)
Additional Variant Information for SERPINB6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINB6 Gene
Disorders for SERPINB6 Gene
(3) MalaCards diseases for SERPINB6 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 91 |
|
|
| autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
| sensorineural hearing loss |
|
|
Search SERPINB6 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for SERPINB6
No data available for Genatlas for SERPINB6 Gene
Publications for SERPINB6 Gene
- Cloning and molecular characterization of a human intracellular serine proteinase inhibitor. (PMID: 8415716) Coughlin P … Bird P (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 23
- A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. (PMID: 20451170) Sirmaci A … Tekin M (American journal of human genetics 2010) 2 3 4
- SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes. (PMID: 17761692) Scott FL … Bird PI (Journal of biochemistry 2007) 3 4 23
- Intracellular serpin SERPINB6 (PI6) is abundantly expressed by human mast cells and forms complexes with beta-tryptase monomers. (PMID: 14670919) Strik MC … Kummer JA (Blood 2004) 3 4 23
- 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 PI (Cytogenetics and cell genetics 1998) 2 3 23
ExternalLinks
Products for SERPINB6 Gene
- Custom Antibody ServicesOriGene Antibodies for SERPINB6
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for SERPINB6
- Origene Custom Protein Services for SERPINB6
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SERPINB6
- Browse OriGene Inhibitory RNA Products For SERPINB6
- OriGene qPCR primer pairs for SERPINB6
- OriGene qPCR primer pairs and template standards for SERPINB6
- OriGene CRISPR knockouts for SERPINB6
- OriGene ORF clones in human for SERPINB6
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SERPINB6
- Sino Biological Human cDNA Clone for SERPINB6
- Sino Biological Recombinant Proteins for SERPINB6
- Sino Biological Cell Lysates for SERPINB6
- Sino Biological Antibodies for SERPINB6
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SERPINB6
- Novus Biologicals proteins and lysates for SERPINB6
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for SERPINB6
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for SERPINB6 (AFLGC-SERPINB6)
- VectorBuilder Custom and pre-made DNA vectors for SERPINB6 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SERPINB6 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SERPINB6 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SERPINB6 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SERPINB6
- antibodies-online: Show 18 available SERPINB6 Antibodies ranked by validation data
- Compare Top SERPINB6 Antibodies
- antibodies-online: Show 17 available SERPINB6 Elisa Kits ranked by validation data
- Compare Top SERPINB6 Elisa Kits
- Quality Products:
- antibodies-online: Show 12 available SERPINB6 Proteins ranked by validation data
- Compare Top SERPINB6 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for SERPINB6
- Search Santa Cruz Biotechnology (SCBT) for SERPINB6 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SERPINB6
- Horizon Cell Lines for SERPINB6
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SERPINB6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SERPINB6
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SERPINB6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINB6
- Biorbyt antibodies for SERPINB6
Sources for SERPINB6 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB