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Aliases for SCIN Gene

Aliases for SCIN Gene

  • Scinderin 2 3 4 5
  • Adseverin 2 3
  • KIAA1905 4

External Ids for SCIN Gene

Previous GeneCards Identifiers for SCIN Gene

  • GC07P012254
  • GC07P012354
  • GC07P012383
  • GC07P012576
  • GC07P012488

Summaries for SCIN Gene

Entrez Gene Summary for SCIN Gene

  • SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010]

GeneCards Summary for SCIN Gene

SCIN (Scinderin) is a Protein Coding gene. Among its related pathways are Fc gamma R-mediated phagocytosis and Endochondral Ossification. GO annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is ENSG00000283430.

UniProtKB/Swiss-Prot for SCIN Gene

  • Ca(2+)-dependent actin filament-severing protein that has a regulatory function in exocytosis by affecting the organization of the microfilament network underneath the plasma membrane (PubMed:8547642, PubMed:26365202). Severing activity is inhibited by phosphatidylinositol 4,5-bis-phosphate (PIP2) (By similarity). In vitro, also has barbed end capping and nucleating activities in the presence of Ca(2+). Required for megakaryocyte differentiation, maturation, polyploidization and apoptosis with the release of platelet-like particles (PubMed:11568009). Plays a role in osteoclastogenesis (OCG) and actin cytoskeletal organization in osteoclasts (By similarity). Regulates chondrocyte proliferation and differentiation (By similarity). Inhibits cell proliferation and tumorigenesis. Signaling is mediated by MAPK, p38 and JNK pathways (PubMed:11568009).

Gene Wiki entry for SCIN Gene

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

Genomics for SCIN Gene

Regulatory Elements for SCIN Gene

Enhancers for SCIN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F012584 1.2 Ensembl ENCODE 32.2 +14.9 14929 1.4 PKNOX1 RAD21 CHAMP1 CREM JUNB REST ELF1 SMARCB1 MEF2D POLR2H SCIN GC07M012586 ENSG00000225606
GH07F012587 0.5 ENCODE 31.8 +19.7 19688 5.6 CTCF LEF1 ESRRA PKNOX1 TAL1 ZNF133 FEZF1 CHAMP1 POLR2A NCOR1 SCIN GC07M012586 ENSG00000229233
GH07F012570 0.2 ENCODE 31.1 +0.5 528 1.2 SUZ12 ZIC2 HIC1 E2F1 ZNF316 ZFHX2 GATA3 GLIS2 ZBTB48 PATZ1 SCIN ENSG00000225606
GH07F012543 0.7 ENCODE 26.9 -26.1 -26102 2.2 HDAC1 PKNOX1 INSM2 RFX5 ETV6 FOS CREM ZBTB11 JUNB ELF1 SCIN ENSG00000225606 LOC102725191 PIR42654
GH07F012572 0.9 Ensembl 21.1 +2.8 2752 0.6 ARID1B GATA2 TAL1 PRDM10 PRDM1 CHAMP1 SCIN ENSG00000225606 GC07M012586
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SCIN on UCSC Golden Path with GeneCards custom track

Promoters for SCIN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001889153 351 601 SUZ12 ZIC2 HIC1 E2F1 ZFHX2 ZNF316 GATA3 GLIS2 ZBTB48 PATZ1

Genomic Location for SCIN Gene

Chromosome:
7
Start:
12,570,349 bp from pter
End:
12,660,179 bp from pter
Size:
89,831 bases
Orientation:
Plus strand

Genomic View for SCIN Gene

Genes around SCIN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SCIN Gene

Proteins for SCIN Gene

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

    Protein Symbol:
    Q9Y6U3-ADSV_HUMAN
    Recommended name:
    Adseverin
    Protein Accession:
    Q9Y6U3
    Secondary Accessions:
    • A8K2U8
    • Q8NBZ6
    • Q8WU97
    • Q96JC7
    • Q96PY2

    Protein attributes for SCIN Gene

    Size:
    715 amino acids
    Molecular mass:
    80489 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB67798.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SCIN Gene

    Alternative splice isoforms for SCIN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCIN Gene

Post-translational modifications for SCIN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for SCIN

No data available for DME Specific Peptides for SCIN Gene

Domains & Families for SCIN Gene

Gene Families for SCIN Gene

Suggested Antigen Peptide Sequences for SCIN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6U3

UniProtKB/Swiss-Prot:

ADSV_HUMAN :
  • Belongs to the villin/gelsolin family.
  • Contains 6 gelsolin-like repeats.
Family:
  • Belongs to the villin/gelsolin family.
Similarity:
  • Contains 6 gelsolin-like repeats.
genes like me logo Genes that share domains with SCIN: view

Function for SCIN Gene

Molecular function for SCIN Gene

UniProtKB/Swiss-Prot Function:
Ca(2+)-dependent actin filament-severing protein that has a regulatory function in exocytosis by affecting the organization of the microfilament network underneath the plasma membrane (PubMed:8547642, PubMed:26365202). Severing activity is inhibited by phosphatidylinositol 4,5-bis-phosphate (PIP2) (By similarity). In vitro, also has barbed end capping and nucleating activities in the presence of Ca(2+). Required for megakaryocyte differentiation, maturation, polyploidization and apoptosis with the release of platelet-like particles (PubMed:11568009). Plays a role in osteoclastogenesis (OCG) and actin cytoskeletal organization in osteoclasts (By similarity). Regulates chondrocyte proliferation and differentiation (By similarity). Inhibits cell proliferation and tumorigenesis. Signaling is mediated by MAPK, p38 and JNK pathways (PubMed:11568009).

Gene Ontology (GO) - Molecular Function for SCIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding ISS --
GO:0003779 actin binding TAS 11568009
GO:0005509 calcium ion binding TAS 11568009
GO:0005545 1-phosphatidylinositol binding TAS 11568009
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding ISS --
genes like me logo Genes that share ontologies with SCIN: view
genes like me logo Genes that share phenotypes with SCIN: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for SCIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCIN Gene

Cytoplasm, cytoskeleton. Cell projection, podosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCIN Gene COMPARTMENTS Subcellular localization image for SCIN gene
Compartment Confidence
cytoskeleton 5
extracellular 5
cytosol 4
plasma membrane 3
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SCIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA --
GO:0005737 cytoplasm ISS --
GO:0005856 cytoskeleton IEA --
GO:0005903 brush border IEA --
GO:0005938 cell cortex ISS --
genes like me logo Genes that share ontologies with SCIN: view

Pathways & Interactions for SCIN Gene

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

Pathways by source for SCIN Gene

Gene Ontology (GO) - Biological Process for SCIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008285 negative regulation of cell proliferation IMP 11568009
GO:0017156 calcium ion regulated exocytosis ISS --
GO:0032330 regulation of chondrocyte differentiation ISS --
GO:0042989 sequestering of actin monomers IMP 19666531
GO:0043065 positive regulation of apoptotic process IMP 11568009
genes like me logo Genes that share ontologies with SCIN: view

No data available for SIGNOR curated interactions for SCIN Gene

Drugs & Compounds for SCIN Gene

(3) Drugs for SCIN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(128) Additional Compounds for SCIN Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PS(14:0/14:0)
  • 1-Myristoyl-2-myristoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:0)
  • Phosphatidylserine(28:0)
  • PS(14:0/14:0)
  • PS(28:0)
PS(14:0/14:1(9Z))
  • 1-Myristoyl-2-myristoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:1)
  • Phosphatidylserine(14:0/14:1n5)
  • Phosphatidylserine(14:0/14:1w5)
  • Phosphatidylserine(28:1)
PS(14:0/16:0)
  • 1-Myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:0)
  • Phosphatidylserine(30:0)
  • PS(14:0/16:0)
  • PS(30:0)
PS(14:0/16:1(9Z))
  • 1-Myristoyl-2-palmitoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:1)
  • Phosphatidylserine(14:0/16:1n7)
  • Phosphatidylserine(14:0/16:1w7)
  • Phosphatidylserine(30:1)
PS(14:0/18:0)
  • 1-Myristoyl-2-stearoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/18:0)
  • Phosphatidylserine(32:0)
  • PS(14:0/18:0)
  • PS(32:0)
genes like me logo Genes that share compounds with SCIN: view

Transcripts for SCIN Gene

Unigene Clusters for SCIN Gene

Scinderin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - -
SP4:
SP5: - -
SP6: -
SP7: -
SP8: -

ExUns: 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SCIN Gene

GeneLoc Exon Structure for
SCIN
ECgene alternative splicing isoforms for
SCIN

Expression for SCIN Gene

mRNA expression in normal human tissues for SCIN Gene

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

This gene is overexpressed in Kidney - Cortex (x7.1), Brain - Spinal cord (cervical c-1) (x5.2), Esophagus - Mucosa (x4.3), Small Intestine - Terminal Ileum (x4.2), and Colon - Transverse (x4.1).

Protein differential expression in normal tissues from HIPED for SCIN Gene

This gene is overexpressed in Stomach (26.2) and Lung (13.3).

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



NURSA nuclear receptor signaling pathways regulating expression of SCIN Gene:

SCIN

SOURCE GeneReport for Unigene cluster for SCIN Gene:

Hs.655515

mRNA Expression by UniProt/SwissProt for SCIN Gene:

Q9Y6U3-ADSV_HUMAN
Tissue specificity: Expressed in megakaryocytes.
genes like me logo Genes that share expression patterns with SCIN: view

Primer Products

No data available for Protein tissue co-expression partners for SCIN Gene

Orthologs for SCIN Gene

This gene was present in the common ancestor of chordates.

Orthologs for SCIN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCIN 34 35
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia SCIN 34
  • 90.19 (n)
cow
(Bos Taurus)
Mammalia SCIN 34 35
  • 88.8 (n)
mouse
(Mus musculus)
Mammalia Scin 34 16 35
  • 86.81 (n)
rat
(Rattus norvegicus)
Mammalia Scin 34
  • 86.71 (n)
oppossum
(Monodelphis domestica)
Mammalia SCIN 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCIN 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCIN 34 35
  • 76.55 (n)
lizard
(Anolis carolinensis)
Reptilia SCIN 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495760 34
  • 72.3 (n)
zebrafish
(Danio rerio)
Actinopterygii scin 34 35
  • 68.12 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6995 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6001 35
  • 42 (a)
OneToMany
Species where no ortholog for SCIN 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for SCIN Gene

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

Paralogs for SCIN Gene

(6) SIMAP similar genes for SCIN Gene using alignment to 6 proteins:

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

Variants for SCIN Gene

Sequence variations from dbSNP and Humsavar for SCIN Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1017405 -- 12,650,793(-) TGGTA(A/C)AAATG intron-variant
rs10215726 -- 12,610,621(+) ATTCC(C/T)TTATT intron-variant
rs10216224 -- 12,608,627(+) caccc(A/G)ccacc intron-variant
rs10224407 -- 12,604,440(+) AATTA(A/G)TCACA intron-variant
rs10224929 -- 12,627,496(+) CTAGA(C/G)CTCTC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1265e214 CNV gain 21293372
dgv406n21 CNV loss 19592680
dgv6274n100 CNV loss 25217958
dgv6275n100 CNV loss 25217958
dgv6276n100 CNV gain 25217958
esv2596299 CNV deletion 19546169
esv3576293 CNV gain 25503493
esv3612263 CNV loss 21293372
nsv1018053 CNV gain 25217958
nsv1019962 CNV loss 25217958
nsv1020242 CNV gain 25217958
nsv464379 CNV loss 19166990
nsv470066 CNV loss 18288195
nsv519573 CNV loss 19592680
nsv520866 CNV loss 19592680
nsv521176 CNV gain 19592680
nsv524108 CNV loss 19592680
nsv527833 CNV loss 19592680
nsv528031 CNV loss 19592680
nsv606231 CNV loss 21841781
nsv606232 CNV loss 21841781
nsv818483 CNV gain 17921354
nsv830907 CNV loss 17160897

Variation tolerance for SCIN Gene

Residual Variation Intolerance Score: 95.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.30; 96.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCIN Gene

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

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

Disorders for SCIN Gene

Relevant External Links for SCIN

Genetic Association Database (GAD)
SCIN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCIN

No disorders were found for SCIN Gene.

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

Publications for SCIN Gene

  1. The crystal structure of the C-terminus of adseverin reveals the actin-binding interface. (PMID: 19666531) Chumnarnsilpa S. … Robinson R.C. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 22 64
  2. Expression of scinderin in megakaryoblastic leukemia cells induces differentiation, maturation, and apoptosis with release of plateletlike particles and inhibits proliferation and tumorigenesis. (PMID: 11568009) Zunino R. … TrifarA^ J.M. (Blood 2001) 3 4 22 64
  3. Barrier role of actin filaments in regulated mucin secretion from airway goblet cells. (PMID: 15342343) Ehre C. … Davis C.W. (Am. J. Physiol., Cell Physiol. 2005) 3 22 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SCIN Gene

Sources for SCIN Gene

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