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SPN Gene(Protein Coding)

Sialophorin

GCID:
GC16P029662
GIFtS:
48
Genes Participants
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Aliases for SPN Gene

Aliases for SPN Gene

  • Sialophorin 2 3 4 5
  • Sialophorin (GpL115, Leukosialin, CD43) 2 3
  • Leukocyte Sialoglycoprotein 3 4
  • Galactoglycoprotein 3 4
  • Leukosialin 2 3
  • GALGP 3 4
  • CD43 3 4
  • CD43 Antigen 4
  • GPL115 3
  • LSN 3

External Ids for SPN Gene

Previous GeneCards Identifiers for SPN Gene

  • GC16M028745
  • GC16P029998
  • GC16P029672
  • GC16P029712
  • GC16P029581
  • GC16P027335
  • GC16P029674

Summaries for SPN Gene

Entrez Gene Summary for SPN Gene

  • This gene encodes a highly sialylated glycoprotein that functions in antigen-specific activation of T cells, and is found on the surface of thymocytes, T lymphocytes, monocytes, granulocytes, and some B lymphocytes. It contains a mucin-like extracellular domain, a transmembrane region and a carboxy-terminal intracellular region. The extracellular domain has a high proportion of serine and threonine residues, allowing extensive O-glycosylation, and has one potential N-glycosylation site, while the carboxy-terminal region has potential phosphorylation sites that may mediate transduction of activation signals. Different glycoforms of this protein have been described. In stimulated immune cells, proteolytic cleavage of the extracellular domain occurs in some cell types, releasing a soluble extracellular fragment. Defects in expression of this gene are associated with Wiskott-Aldrich syndrome. [provided by RefSeq, Sep 2017]

GeneCards Summary for SPN Gene

SPN (Sialophorin) is a Protein Coding gene. Diseases associated with SPN include Wiskott-Aldrich Syndrome and Aleukemic Monocytic Leukemia Cutis. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot for SPN Gene

  • One of the major glycoproteins of thymocytes and T lymphocytes. Plays a role in the physicochemical properties of the T-cell surface and in lectin binding. Presents carbohydrate ligands to selectins. Has an extended rodlike structure that could protrude above the glycocalyx of the cell and allow multiple glycan chains to be accessible for binding. Is a counter-receptor for SN/Siglec-1 (By similarity). During T-cell activation is actively removed from the T-cell-APC (antigen-presenting cell) contact site thus suggesting a negative regulatory role in adaptive immune response (By similarity).

Gene Wiki entry for SPN Gene

Additional gene information for SPN Gene

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

Genomics for SPN Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SPN Gene

Promoters and enhancers for SPN 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
GH16I029661 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.5 1484 6.6 HDGF PKNOX1 SMAD1 ARNT SIN3A YBX1 POLR2B ZNF766 ZNF143 ZNF207 ENSG00000277669 SPN ENSG00000260853 SPNS1 SMG1P5 ENSG00000260367 SMG1P2 ENSG00000198106 NFATC2IP PRR14
GH16I030398 Enhancer 1.3 Ensembl ENCODE 11.8 +737.4 737445 3.8 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B IRF4 YY1 GC16P030401 PIR39668 ZNF785 ENSG00000260114 TBC1D10B SPN PYCARD SMG1P5 CD2BP2 FUS
GH16I029338 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.8 -323.3 -323347 1.9 HDGF PKNOX1 RB1 ZSCAN4 BACH1 PAX8 EBF1 BMI1 KLF5 FOXK2 SPN C16orf54 CDC37P1 PIR48621 SNX29P2 ENSG00000278078 ENSG00000198106
GH16I030457 Enhancer 1.1 Ensembl ENCODE 11.8 +795.7 795739 2.9 HDGF PKNOX1 ARID4B DMAP1 IRF4 ZNF48 SLC30A9 ZNF207 ZNF143 ATF7 PRRT2 ZNF689 FUS HIRIP3 SPN SETD1A PYCARD MIR762HG LOC730183 LOC647086
GH16I029626 Enhancer 0.9 Ensembl ENCODE 13.5 -35.5 -35490 1.9 HDGF PKNOX1 ZFHX2 FOXK2 SCRT2 ATF7 IKZF2 EGR2 SMARCA5 SCRT1 PIR32473 SPN QPRT CA5AP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPN on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SPN Gene

Genomic Locations for SPN Gene
chr16:29,662,950-29,670,876
(GRCh38/hg38)
Size:
7,927 bases
Orientation:
Plus strand
chr16:29,674,300-29,682,187
(GRCh37/hg19)

Genomic View for SPN Gene

Genes around SPN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SPN Gene

Proteins for SPN Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P16150-LEUK_HUMAN
    Recommended name:
    Leukosialin
    Protein Accession:
    P16150
    Secondary Accessions:
    • A8K9B1

    Protein attributes for SPN Gene

    Size:
    400 amino acids
    Molecular mass:
    40322 Da
    Quaternary structure:
    • Interacts with HIPK2 via the cytoplasmic domain. Interacts with RDX (By similarity).

neXtProt entry for SPN Gene

Protein Expression for SPN Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SPN Gene

  • Glycosylated; has a high content of sialic acid and O-linked carbohydrate structures.
  • Glycosylation at posLast=2121, posLast=2222, posLast=2626, isoforms=28, posLast=2929, posLast=3535, isoforms=36, isoforms=37, posLast=4141, isoforms=42, isoforms=46, isoforms=47, isoforms=48, posLast=5050, posLast=5858, posLast=6969, isoforms=99, posLast=103103, isoforms=109, isoforms=113, isoforms=114, isoforms=136, isoforms=137, isoforms=173, isoforms=178, and posLast=239239
  • Modification sites at PhosphoSitePlus

Other Protein References for SPN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for SPN

No data available for DME Specific Peptides for SPN Gene

Domains & Families for SPN Gene

Gene Families for SPN Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted membrane proteins

Protein Domains for SPN Gene

ProtoNet:

Suggested Antigen Peptide Sequences for SPN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for SPN Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SPN Gene

GENATLAS Biochemistry:
sialophorin (gpl115,leukosialin) binding ezrin pradixin/moesin (ERM) proteins
UniProtKB/Swiss-Prot Function:
One of the major glycoproteins of thymocytes and T lymphocytes. Plays a role in the physicochemical properties of the T-cell surface and in lectin binding. Presents carbohydrate ligands to selectins. Has an extended rodlike structure that could protrude above the glycocalyx of the cell and allow multiple glycan chains to be accessible for binding. Is a counter-receptor for SN/Siglec-1 (By similarity). During T-cell activation is actively removed from the T-cell-APC (antigen-presenting cell) contact site thus suggesting a negative regulatory role in adaptive immune response (By similarity).

Phenotypes From GWAS Catalog for SPN Gene

Gene Ontology (GO) - Molecular Function for SPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 1683685
GO:0030544 Hsp70 protein binding IPI 20633027
GO:0031072 heat shock protein binding IPI 20633027
genes like me logo Genes that share ontologies with SPN: view
genes like me logo Genes that share phenotypes with SPN: view

Animal Models for SPN Gene

MGI Knock Outs for SPN:

Animal Model Products

Clone Products

  • Addgene plasmids for SPN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPN Gene

Localization for SPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPN Gene

Membrane; Single-pass type I membrane protein.

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 SPN gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
nucleus 2
golgi apparatus 2
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (1)
  • Golgi apparatus (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 10899905
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2023632
GO:0009986 cell surface IDA 20605918
GO:0016020 membrane HDA,IDA 19946888
genes like me logo Genes that share ontologies with SPN: view

Pathways & Interactions for SPN Gene

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

Gene Ontology (GO) - Biological Process for SPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006935 chemotaxis TAS 10753822
GO:0006955 immune response TAS 2023632
GO:0006968 cellular defense response TAS 1683685
GO:0007162 negative regulation of cell adhesion TAS 10753822
GO:0007163 establishment or maintenance of cell polarity TAS 10753822
genes like me logo Genes that share ontologies with SPN: view

No data available for SIGNOR curated interactions for SPN Gene

Drugs & Compounds for SPN Gene

Products:

  1. Drug

(9) Drugs for SPN Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antibodies Pharma 7224
Autoantibodies Pharma 148
Immunoglobulins Pharma 7224

(8) Additional Compounds for SPN Gene - From: Novoseek

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

Transcripts for SPN Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SPN Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(264) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SPN Gene

Sialophorin:
Representative Sequences:

Clone Products

  • Addgene plasmids for SPN

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

No ASD Table

Relevant External Links for SPN Gene

GeneLoc Exon Structure for
SPN
ECgene alternative splicing isoforms for
SPN

Expression for SPN Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for SPN Gene
mRNA expression by BioGPS for SPN GenemRNA expression by GTEx for SPN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x10.3).

Protein differential expression in normal tissues from HIPED for SPN Gene

This gene is overexpressed in Pancreas (15.1), NK cells (10.4), Nasal epithelium (8.6), CD8 Tcells (8.0), and Neutrophil (6.5).

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



Protein tissue co-expression partners for SPN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPN Gene:

SPN

SOURCE GeneReport for Unigene cluster for SPN Gene:

Hs.632188

mRNA Expression by UniProt/SwissProt for SPN Gene:

P16150-LEUK_HUMAN
Tissue specificity: Cell surface of thymocytes, T-lymphocytes, neutrophils, plasma cells and myelomas.

Evidence on tissue expression from TISSUES for SPN Gene

  • Spleen(4.7)
  • Blood(4.6)
  • Kidney(4.2)
  • Bone marrow(3.9)
  • Lymph node(3.8)
  • Intestine(3.3)
  • Lung(2.8)
  • Skin(2)
genes like me logo Genes that share expression patterns with SPN: view

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

Orthologs for SPN Gene

This gene was present in the common ancestor of mammals.

Orthologs for SPN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SPN 33 34
  • 99.17 (n)
cow
(Bos Taurus)
 Mammalia SPN 33 34
  • 68.52 (n)
mouse
(Mus musculus)
 Mammalia Spn 33 16 34
  • 67.77 (n)
rat
(Rattus norvegicus)
 Mammalia Spn 33
  • 65.48 (n)
dog
(Canis familiaris)
 Mammalia SPN 33 34
  • 63.86 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia SPN 34
  • 25 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia SPN 34
  • 23 (a)
 OneToOne
Species where no ortholog for SPN 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 SPN Gene

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

Paralogs for SPN Gene

No data available for Paralogs for SPN Gene

Variants for SPN Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for SPN Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000337145 -- 29,666,023(+) A/G 3_prime_UTR_variant
rs1000372600 -- 29,666,783(+) G/T 3_prime_UTR_variant
rs1000673115 -- 29,662,722(+) T/G upstream_transcript_variant
rs1000788807 -- 29,662,564(+) C/T upstream_transcript_variant
rs1000881500 -- 29,670,438(+) G/A 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
dgv34n68 CNV loss 17160897
esv2758641 CNV gain 17122850
nsv1063706 CNV gain 25217958
nsv833183 CNV loss 17160897

Variation tolerance for SPN Gene

Residual Variation Intolerance Score: 75.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.15; 51.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SPN Gene

MalaCards: The human disease database

(13) MalaCards diseases for SPN Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome
  • was
aleukemic monocytic leukemia cutis
adenoid basal cell carcinoma
  • skin adenoid basal cell carcinoma
multicentric papillary thyroid carcinoma
  • multicentric thyroid gland papillary carcinoma
malignant leydig cell tumor
  • leydig cell tumor, malignant
- elite association - COSMIC cancer census association via MalaCards
Search SPN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SPN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SPN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPN Gene

Publications for SPN Gene

  1. Amino acid sequence of human plasma galactoglycoprotein: identity with the extracellular region of CD43 (sialophorin). (PMID: 1731338) Schmid K … Walsh MT (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 22 58
  2. Structure of the human sialophorin (CD43) gene. Identification of features atypical of genes encoding integral membrane proteins. (PMID: 2241892) Shelley CS … Whitehead AS (The Biochemical journal 1990) 3 4 22 58
  3. Characterization of cDNAs encoding human leukosialin and localization of the leukosialin gene to chromosome 16. (PMID: 2521952) Pallant A … Frelinger JG (Proceedings of the National Academy of Sciences of the United States of America 1989) 2 3 4 58
  4. Molecular characterization of sialophorin (CD43), the lymphocyte surface sialoglycoprotein defective in Wiskott-Aldrich syndrome. (PMID: 2784859) Shelley CS … Whitehead AS (Proceedings of the National Academy of Sciences of the United States of America 1989) 2 3 4 58
  5. CD43 promotes cell growth and helps to evade FAS-mediated apoptosis in non-hematopoietic cancer cells lacking the tumor suppressors p53 or ARF. (PMID: 17891181) Kadaja-Saarepuu L … Maimets T (Oncogene 2008) 3 22 58

Products for SPN Gene

  • Addgene plasmids for SPN

Sources for SPN Gene

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