SCIN scinderin [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCINprovided by HGNC
Official Full Name: scinderinprovided by HGNC
Primary source: HGNC:HGNC:21695
See related: Ensembl:ENSG00000006747 MIM:613416; AllianceGenome:HGNC:21695
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010]
Expression: Biased expression in small intestine (RPKM 29.7), kidney (RPKM 29.3) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p21.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (12570720..12660182)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (12701807..12791257)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (12610346..12699807)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Scinderin Promotes Hydrogen Peroxide-induced Lens Epithelial Cell Injury in Age-related Cataract.
Title: Scinderin Promotes Hydrogen Peroxide-induced Lens Epithelial Cell Injury in Age-related Cataract.
The AHR target gene scinderin activates the WNT pathway by facilitating the nuclear translocation of beta-catenin.
Title: The AHR target gene scinderin activates the WNT pathway by facilitating the nuclear translocation of β-catenin.
down-regulation of SCIN expression may relate with the progression of chronic myeloid leukemia
Title: [Clinical Study of SCIN Expression and Dromoter Methylation in Patients with Chronic Myeloid Leukemia].
Findings indicate that decreased scinderin (SCIN) expression associated with its promoter methylation is a valuable biomarker for predicting adverse prognosis in acute myeloid leukemia (AML) patients.
Title: Decreased SCIN expression, associated with promoter methylation, is a valuable predictor for prognosis in acute myeloid leukemia.
Data suggest that scinderin (Scin) played a vital role in the development of developmental dysplasia of the hip (DDH).
Title: Cyclic compressive stress-induced scinderin regulates progress of developmental dysplasia of the hip.
Epistasis analysis identified a statistically significant interaction between CDC42 and SCIN SNPs which are strongly associated with CDC42 and SCIN gene expression levels and map to regulatory elements in skin cells. This interaction has important biological relevance since CDC42 and SCIN proteins have opposite effects in actin cytoskeleton organization and dynamics, which underlies melanoma cell migration and invasion.
Title: A comprehensive genome-wide analysis of melanoma Breslow thickness identifies interaction between CDC42 and SCIN genetic variants.
High levels of SCIN expression in gastric cancer tissue correlate with poor prognosis of patients. SCIN enhances the invasion and metastasis of GC cells through activating the Cdc42 pathway to increase the formation of filopodia.
Title: Scinderin promotes the invasion and metastasis of gastric cancer cells and predicts the outcome of patients.
Suppression of scinderin impairs proliferation and migration of gastric cancer SGC7901 cells and attenuates its epithelialmesenchymal transition process.
Title: Suppression of scinderin modulates epithelial‑mesenchymal transition markers in highly metastatic gastric cancer cell line SGC‑7901.
SCIN plays an important role in lung carcinoma cell proliferation
Title: Lentivirus-mediated silencing of SCIN inhibits proliferation of human lung carcinoma cells.
These results suggest that SCIN plays an important role in the proliferation of prostate cancer cells and lentivirus-mediated inhibition of SCIN expression may be a potential therapeutic method for the treatment of prostate cancer
Title: Suppression of SCIN inhibits human prostate cancer cell proliferation and induces G0/G1 phase arrest.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SCIN (e-PCR)
- UniSTS:503605

G30497 (e-PCR)
- UniSTS:19537

D7S1597 (e-PCR)
- UniSTS:46681

STS-H67781 (e-PCR)
- UniSTS:78706

SHGC-55968 (e-PCR)
- UniSTS:72568

RH18521 (e-PCR)
- UniSTS:8081

STS-N71427 (e-PCR)
- UniSTS:34459

STS-R63710 (e-PCR)
- UniSTS:3744

SHGC-34183 (e-PCR)
- UniSTS:61091

RH66415 (e-PCR)
- UniSTS:72103

G66344 (e-PCR)
- UniSTS:230331

RH77952 (e-PCR)
- UniSTS:48587

GDB:1318599 (e-PCR)
- UniSTS:42475

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol binding	TAS Traceable Author Statement more info	PubMed
enables actin binding	ISS Inferred from Sequence or Structural Similarity more info
enables actin binding	TAS Traceable Author Statement more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion binding	TAS Traceable Author Statement more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylserine binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in actin filament capping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament severing	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament severing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin nucleation	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin polymerization or depolymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in barbed-end actin filament capping	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium-ion regulated exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell projection assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in central nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of actin nucleation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of megakaryocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in sequestering of actin monomers	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in brush border	IEA Inferred from Electronic Annotation more info
located_in cell cortex	ISS Inferred from Sequence or Structural Similarity more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in podosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: scinderin

Names: adseverin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001112706.3 → NP_001106177.1 scinderin isoform 1

See identical proteins and their annotated locations for NP_001106177.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC011891, AK290363, BC021090, CA447429

Consensus CDS

CCDS47545.1

UniProtKB/Swiss-Prot

A8K2U8, Q8NBZ6, Q8WU97, Q96JC7, Q96PY2, Q9Y6U3

Related

ENSP00000297029.5, ENST00000297029.10

Conserved Domains (6) summary

cd11288
Location:508 → 598

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11289
Location:136 → 225

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:10 → 121

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:613 → 711

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:246 → 346

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd11293
Location:390 → 486

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
NM_033128.3 → NP_149119.1 scinderin isoform 2

See identical proteins and their annotated locations for NP_149119.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks three exons and includes an alternate exon in the 5' end resulting in use of a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AK027778, CA447429

Consensus CDS

CCDS47546.1

UniProtKB/TrEMBL

Q8NBV9

Related

ENSP00000430997.1, ENST00000519209.5

Conserved Domains (4) summary

cd11288
Location:261 → 351

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:366 → 464

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:1 → 99

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd11293
Location:143 → 239

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins