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Aliases for SBSN Gene

Aliases for SBSN Gene

  • Suprabasin 2 3 3 5
  • HLAR698 3
  • UNQ698 3

External Ids for SBSN Gene

Previous GeneCards Identifiers for SBSN Gene

  • GC19M040708
  • GC19M036014
  • GC19M032519
  • GC19M035766
  • GC19M035924
  • GC19M035949
  • GC19M036819
  • GC19M037438
  • GC19M037777
  • GC19M038077

Summaries for SBSN Gene

GeneCards Summary for SBSN Gene

SBSN (Suprabasin) is a Protein Coding gene.

Additional gene information for SBSN Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SBSN Gene

Genomics for SBSN Gene

GeneHancer (GH) Regulatory Elements for SBSN Gene

Promoters and enhancers for SBSN Gene
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
GH19I035527 Promoter/Enhancer 1.1 EPDnew ENCODE 550.8 -0.1 -118 1.1 KLF1 RFX1 ZNF114 ZNF621 CEBPB SIN3A ZNF623 PRDM2 ZFHX2 GLIS1 SBSN ZNF146 ZNF566 ZNF599 FAM187B2P ZNF302 ZNF181 ZFP14 ENSG00000271049 TMEM147
GH19I035435 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +91.6 91618 2.7 HDAC1 BATF IRF4 YY1 ATF7 ETV6 FOS IKZF2 RUNX3 ZNF174 ZNF599 NFKBID TMEM147-AS1 FFAR2 LIN37 KRTDAP DMKN CD22 SBSN FAM187B
GH19I035495 Enhancer 1.1 Ensembl ENCODE 10.8 +32.9 32854 0.7 PKNOX1 ARID4B SIN3A ZNF2 IRF4 ZNF48 GLIS2 ZNF143 RXRA MIER2 KRTDAP ZFP82 CLIP3 ZNF566 LINC00665 ZNF302 ZNF30 ENSG00000233214 FFAR2 SBSN
GH19I035388 Enhancer 1.1 FANTOM5 ENCODE 10.1 +139.4 139363 1.5 FOXA2 MLX TCF12 ZNF766 GATA2 FOS ATF7 CAVIN1 PPARG ZNF592 TMEM147-AS1 ENSG00000233214 ZNF599 FFAR2 HAUS5 KRTDAP DMKN SBSN PROSER3 FAM187B
GH19I035693 Enhancer 1 ENCODE 9.3 -165.6 -165603 0.2 FOXA2 PKNOX1 ARID4B SIN3A YBX1 ZNF2 IRF4 SLC30A9 CBX5 ZNF207 TMEM147-AS1 ZNF792 KMT2B HAUS5 RBM42 PROSER3 ZNF567 ENSG00000271032 ZNF599 U2AF1L4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SBSN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SBSN gene promoter:

Genomic Locations for SBSN Gene

Genomic Locations for SBSN Gene
chr19:35,523,367-35,528,351
(GRCh38/hg38)
Size:
4,985 bases
Orientation:
Minus strand
chr19:36,014,269-36,019,253
(GRCh37/hg19)

Genomic View for SBSN Gene

Genes around SBSN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SBSN Gene

Proteins for SBSN Gene

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

    Protein Symbol:
    Q6UWP8-SBSN_HUMAN
    Recommended name:
    Suprabasin
    Protein Accession:
    Q6UWP8
    Secondary Accessions:
    • A8K5J0
    • E9PBV3

    Protein attributes for SBSN Gene

    Size:
    590 amino acids
    Molecular mass:
    60541 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SBSN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SBSN Gene

Post-translational modifications for SBSN Gene

Other Protein References for SBSN Gene

Antibody Products

No data available for DME Specific Peptides for SBSN Gene

Domains & Families for SBSN Gene

Gene Families for SBSN Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SBSN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SBSN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SBSN: view

No data available for UniProtKB/Swiss-Prot for SBSN Gene

Function for SBSN Gene

Molecular function for SBSN Gene

UniProtKB/Swiss-Prot Induction:
Up-regulated in differentiating keratinocytes.

Gene Ontology (GO) - Molecular Function for SBSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with SBSN: view

Phenotypes for SBSN Gene

genes like me logo Genes that share phenotypes with SBSN: view

Animal Model Products

CRISPR Products

miRNA for SBSN Gene

miRTarBase miRNAs that target SBSN

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SBSN Gene

Localization for SBSN Gene

Subcellular locations from UniProtKB/Swiss-Prot for SBSN Gene

Secreted.

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 SBSN gene
Compartment Confidence
extracellular 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SBSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0031012 extracellular matrix IDA 23979707
GO:0070062 extracellular exosome HDA,IDA 19199708
genes like me logo Genes that share ontologies with SBSN: view

Pathways & Interactions for SBSN Gene

No Data Available

Gene Ontology (GO) - Biological Process for SBSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with SBSN: view

No data available for Pathways by source and SIGNOR curated interactions for SBSN Gene

Drugs & Compounds for SBSN Gene

No Compound Related Data Available

Transcripts for SBSN Gene

Unigene Clusters for SBSN Gene

Suprabasin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4
SP1:
SP2: -

Relevant External Links for SBSN Gene

GeneLoc Exon Structure for
SBSN
ECgene alternative splicing isoforms for
SBSN

Expression for SBSN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SBSN Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x18.9), Skin - Not Sun Exposed (Suprapubic) (x16.1), Esophagus - Mucosa (x7.0), Vagina (x5.1), and Cervix - Ectocervix (x4.0).

Protein differential expression in normal tissues from HIPED for SBSN Gene

This gene is overexpressed in Cervix (56.7).

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



Protein tissue co-expression partners for SBSN Gene

NURSA nuclear receptor signaling pathways regulating expression of SBSN Gene:

SBSN

SOURCE GeneReport for Unigene cluster for SBSN Gene:

Hs.433484

mRNA Expression by UniProt/SwissProt for SBSN Gene:

Q6UWP8-SBSN_HUMAN
Tissue specificity: Detected in thymus, uterus and esophagus.

Evidence on tissue expression from TISSUES for SBSN Gene

  • Skin(4.2)
  • Liver(4)
genes like me logo Genes that share expression patterns with SBSN: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SBSN Gene

Orthologs for SBSN Gene

This gene was present in the common ancestor of mammals.

Orthologs for SBSN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SBSN 33 34
  • 81.27 (n)
dog
(Canis familiaris)
Mammalia SBSN 33 34
  • 76.87 (n)
rat
(Rattus norvegicus)
Mammalia Sbsn 33
  • 75.61 (n)
chimpanzee
(Pan troglodytes)
Mammalia SBSN 34
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sbsn 33 16 34
  • 72.44 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 63 (a)
OneToMany
-- 34
  • 51 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SBSN 34
  • 61 (a)
OneToOne
Species where no ortholog for SBSN 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SBSN Gene

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

Paralogs for SBSN Gene

No data available for Paralogs for SBSN Gene

Variants for SBSN Gene

Sequence variations from dbSNP and Humsavar for SBSN Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000166337 -- 35,523,335(-) T/G downstream_transcript_variant
rs1000315720 -- 35,528,513(-) C/T upstream_transcript_variant
rs1000705043 -- 35,523,134(-) T/C downstream_transcript_variant
rs1001724351 -- 35,524,339(-) G/A intron_variant
rs1001958594 -- 35,525,598(-) CCCC/CCCCC intron_variant

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

Variant ID Type Subtype PubMed ID
nsv953285 CNV deletion 24416366
nsv833811 CNV gain 17160897
nsv1116619 CNV deletion 24896259
esv3644238 CNV loss 21293372
esv27260 CNV loss 19812545
esv2718498 CNV deletion 23290073
esv1366374 CNV deletion 17803354
esv1003511 CNV deletion 20482838

Variation tolerance for SBSN Gene

Residual Variation Intolerance Score: 82.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.39; 88.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SBSN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SBSN

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

Disorders for SBSN Gene

Additional Disease Information for SBSN

No disorders were found for SBSN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SBSN Gene

Publications for SBSN Gene

  1. Suprabasin, a novel epidermal differentiation marker and potential cornified envelope precursor. (PMID: 12228223) Park GT … Morasso MI (The Journal of biological chemistry 2002) 2 3 4 22 58
  2. Identification of novel keratinocyte-secreted peptides dermokine-alpha/-beta and a new stratified epithelium-secreted protein gene complex on human chromosome 19q13.1. (PMID: 15234001) Matsui T … Tsukita S (Genomics 2004) 3 22 58
  3. Identification of a conserved cluster of skin-specific genes encoding secreted proteins. (PMID: 15256262) Moffatt P … Lanctôt C (Gene 2004) 3 22 58
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for SBSN Gene

Sources for SBSN Gene

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