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

Aliases for SCIN Gene

Aliases for SCIN Gene

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

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. Diseases associated with SCIN include Carbuncle and Ataxia, Sensory, 1, Autosomal Dominant. Among its related pathways are Regulation of actin cytoskeleton and Fc gamma R-mediated phagocytosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is GSN.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SCIN Gene

Genomics for SCIN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SCIN 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
GH07J012570 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 631.3 +0.4 423 2.4 CEBPG PRDM10 TARDBP FOXA1 ZIC2 PATZ1 EZH2 MGA CEBPB ZNF316 SCIN LOC107986769 lnc-VWDE-7 ENSG00000225606 ARL4A
GH07J012556 Promoter 0.4 EPDnew 600.4 -14.0 -13989 0.1 ZBTB33 piR-30449-165 piR-36573-065 lnc-VWDE-6 piR-50129-237 SCIN ENSG00000226690
GH07J012584 Enhancer 0.8 ENCODE 32.2 +14.5 14492 1 IKZF1 MTA2 IKZF2 ZNF24 SOX6 PKNOX1 EED MGA RELB RUNX3 SCIN LOC107986769 lnc-VWDE-7 ENSG00000225606 ARL4A
GH07J012587 Enhancer 0.8 ENCODE 31.8 +19.5 19459 5.6 LEF1 IKZF1 NR2C1 SOX6 TCF12 EP300 CEBPB POLR2A TAF9B TSC22D4 LOC107986769 lnc-VWDE-7 SCIN ENSG00000225606 LOC107986768 ARL4A
GH07J012543 Enhancer 0.9 Ensembl ENCODE 26.9 -26.3 -26330 2.2 CREB1 ZNF629 JUND FOXA1 PRDM1 ZBTB44 ZBTB20 SP1 CTBP1 FOS SCIN ENSG00000225606 ENSG00000226690 piR-43105-587 piR-49655
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCIN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SCIN

Top Transcription factor binding sites by QIAGEN in the SCIN gene promoter:
  • AML1a
  • E47
  • FOXL1
  • Tal-1beta

Genomic Locations for SCIN Gene

Genomic Locations for SCIN Gene
chr7:12,570,577-12,660,182
(GRCh38/hg38)
Size:
89,606 bases
Orientation:
Plus strand
chr7:12,610,203-12,693,228
(GRCh37/hg19)
Size:
83,026 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=Extended N-terminus.; 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

No data available for DME Specific Peptides for SCIN Gene

Domains & Families for SCIN Gene

Gene Families for SCIN Gene

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

Protein Domains for SCIN Gene

InterPro:
Blocks:
  • Gelsolin family signature
  • Gelsolin region
ProtoNet:

Suggested Antigen Peptide Sequences for SCIN Gene

GenScript: Design optimal peptide antigens:
  • Scinderin (ADSV_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6U3

UniProtKB/Swiss-Prot:

ADSV_HUMAN :
  • Belongs to the villin/gelsolin family.
Family:
  • Belongs to the villin/gelsolin family.
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).

Phenotypes From GWAS Catalog for SCIN Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCIN

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
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 SCIN gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 4
cytosol 4
nucleus 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SCIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA --
GO:0005623 cell IEA --
GO:0005737 cytoplasm ISS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
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:0007417 central nervous system development IBA 21873635
GO:0008154 actin polymerization or depolymerization IBA 21873635
GO:0008285 negative regulation of cell proliferation IMP 11568009
GO:0017156 calcium ion regulated exocytosis ISS --
GO:0030031 cell projection assembly IBA 21873635
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(28:0)
  • pSer(14:0/14:0)
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(30:0)
  • pSer(14:0/16:0)
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(32:0)
  • pSer(14:0/18:0)
genes like me logo Genes that share compounds with SCIN: view

Transcripts for SCIN Gene

mRNA/cDNA for SCIN Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCIN

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

Expression for SCIN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for SCIN Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for SCIN Gene

  • Nervous system(4.5)
  • Skin(4.4)
  • Liver(2.7)
  • Blood(2.7)
  • Kidney(2.6)
  • Heart(2.4)
  • Lung(2.4)
  • Intestine(2.2)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with SCIN: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SCIN 30
  • 90.19 (n)
Cow
(Bos Taurus)
Mammalia SCIN 30 31
  • 88.8 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Scin 30 17 31
  • 86.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Scin 30
  • 86.71 (n)
Oppossum
(Monodelphis domestica)
Mammalia SCIN 31
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SCIN 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SCIN 30 31
  • 76.55 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SCIN 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100495760 30
  • 72.3 (n)
Zebrafish
(Danio rerio)
Actinopterygii scin 30 31
  • 68.12 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6995 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6001 31
  • 42 (a)
OneToMany
Species where no ortholog for SCIN 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SCIN: view image

Paralogs for SCIN Gene

Paralogs for SCIN Gene

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

  • ADSV_HUMAN
  • C9JGB6_HUMAN
  • E5RHN8_HUMAN
  • E5RHX6_HUMAN
  • F8WBX5_HUMAN
  • Q75MG0_HUMAN
genes like me logo Genes that share paralogs with SCIN: view

Variants for SCIN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SCIN Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs1138957 - p.Leu578Phe
rs17166250 - p.Phe455Leu
rs2240572 - p.His61Arg
rs35083013 - p.Ala443Pro
rs35705332 - p.Lys500Arg

Additional dbSNP identifiers (rs#s) for SCIN Gene

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)

Additional Variant Information for SCIN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SCIN Gene

MalaCards: The human disease database

(8) MalaCards diseases for SCIN Gene - From: DISEASES

Disorder Aliases PubMed IDs
carbuncle
  • carbuncle and furuncle of any part of face except eye
ataxia, sensory, 1, autosomal dominant
  • snax1
ritter's disease
  • dermatitis exfoliativa neonatorum
waterhouse-friderichsen syndrome
  • meningococcal hemorrhagic adrenalitis
endocardium disease
  • abnormality of the endocardium
- elite association - COSMIC cancer census association via MalaCards
Search SCIN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SCIN

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

No data available for 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 RC (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 23
  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 … Trifaró JM (Blood 2001) 3 4 23
  3. Barrier role of actin filaments in regulated mucin secretion from airway goblet cells. (PMID: 15342343) Ehre C … Davis CW (American journal of physiology. Cell physiology 2005) 3 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for SCIN Gene

Sources for SCIN Gene