FSCN2 fascin actin-bundling protein 2, retinal [Homo sapiens (human)] - Gene

Summary

Official Symbol: FSCN2provided by HGNC
Official Full Name: fascin actin-bundling protein 2, retinalprovided by HGNC
Primary source: HGNC:HGNC:3960
See related: Ensembl:ENSG00000186765 MIM:607643; AllianceGenome:HGNC:3960
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RFSN; RP30
Summary: This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (81515062..81537130)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (82430273..82454442)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (79495403..79504156)

Chromosome 17 - NC_000017.11 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?

Fascin as a useful marker for cancer-associated fibroblasts in invasive lung adenocarcinoma.
Title: Fascin as a useful marker for cancer-associated fibroblasts in invasive lung adenocarcinoma.
Fascin induces melanoma tumorigenesis and stemness through regulating the Hippo pathway
Title: Fascin induces melanoma tumorigenesis and stemness through regulating the Hippo pathway.
diffuse expression in 82% of undifferentiated/dedifferentiated endometrial carcinomas
Title: High expression of SALL4 and fascin, and loss of E-cadherin expression in undifferentiated/dedifferentiated carcinomas of the endometrium: An immunohistochemical and clinicopathologic study.
Tax-mediated transcriptional induction of Fascin requires NF-kappaB- and TRR-dependent promoter activation, and a promoter-independent, but PP2-sensitive signaling pathway.
Title: Regulation of the tumor marker Fascin by the viral oncoprotein Tax of human T-cell leukemia virus type 1 (HTLV-1) depends on promoter activation and on a promoter-independent mechanism.
the serum fascin level is an effective indicator of tumor aggressiveness, and that it plays an important role in the prognosis of NSCLC, particularly for non-distant metastatic patients.
Title: Serological investigation of the clinical significance of fascin in non-small-cell lung cancer.
Data indicate the specific contribution of fascin and cortactin during invadopodium formation.
Title: Stratifying fascin and cortactin function in invadopodium formation using inhibitory nanobodies and targeted subcellular delocalization.
The filopodium: a stable structure with highly regulated repetitive cycles of elongation and persistence depending on the actin cross-linker fascin
Title: The filopodium: a stable structure with highly regulated repetitive cycles of elongation and persistence depending on the actin cross-linker fascin.
Fascin expression predicts survival after potentially curative resection of node-positive colon cancer.
Title: Fascin expression predicts survival after potentially curative resection of node-positive colon cancer.
expression may play an essential role in regulation of progression of oral squamous cell carcinoma and contributes to the event of epithelial-mesenchymal transition in the early aggressiveness of OSCC
Title: Effects of small interfering RNAs targeting Fascin on gene expression in oral cancer cells.
Higher fascin scores correlated positively with tumor differentiation of esophageal SqCC. Significantly worse prognosis in patients with high scores of fascin, poor differentiation, T4 stage, positive for lymph node metastasis and distant metastasis
Title: Cortactin, fascin, and survivin expression associated with clinicopathological parameters in esophageal squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 30 MedGen: C1842816 OMIM: 607921 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs

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

NoName (e-PCR)
- UniSTS:482429

NoName (e-PCR)
- UniSTS:486070

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	ISS Inferred from Sequence or Structural Similarity more info
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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment or maintenance of cell polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in eye photoreceptor cell development	IEA Inferred from Electronic Annotation more info
involved_in visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in actin cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in stereocilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: fascin-2

Names: fascin homolog 2, actin-bundling protein, retinal

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.

Genomic

NG_015964.2 RefSeqGene

Range

18317..27070

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001077182.3 → NP_001070650.1 fascin-2 isoform 2

See identical proteins and their annotated locations for NP_001070650.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).

Source sequence(s)

AA059324, AC139149, AF030165, AI189621

Consensus CDS

CCDS45810.1

UniProtKB/Swiss-Prot

O14926

Related

ENSP00000334665.7, ENST00000334850.7

Conserved Domains (2) summary

cd00257
Location:138 → 254

Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

pfam06268
Location:266 → 370

Fascin; Fascin domain
NM_012418.4 → NP_036550.1 fascin-2 isoform 1

See identical proteins and their annotated locations for NP_036550.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 3' coding region, compared to variant 2, resulting in a shorter protein (isoform 1).

Source sequence(s)

AA059324, AC139149, AF030165

Consensus CDS

CCDS45811.1

UniProtKB/Swiss-Prot

A0AVC4, A8MRA6, O14926

Related

ENSP00000388716.2, ENST00000417245.7

Conserved Domains (2) summary

cd00257
Location:138 → 254

Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

pfam06268
Location:266 → 376

Fascin; Fascin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

81515062..81537130

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011524590.3 → XP_011522892.1 fascin-2 isoform X1

See identical proteins and their annotated locations for XP_011522892.1

UniProtKB/Swiss-Prot

O14926

Conserved Domains (2) summary

cd00257
Location:138 → 254

Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

pfam06268
Location:266 → 370

Fascin; Fascin domain
XM_047435720.1 → XP_047291676.1 fascin-2 isoform X1
XM_011524587.3 → XP_011522889.1 fascin-2 isoform X1

See identical proteins and their annotated locations for XP_011522889.1

UniProtKB/Swiss-Prot

O14926

Conserved Domains (2) summary

cd00257
Location:138 → 254

Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

pfam06268
Location:266 → 370

Fascin; Fascin domain
XM_047435721.1 → XP_047291677.1 fascin-2 isoform X1

UniProtKB/Swiss-Prot

A0AVC4, A8MRA6, O14926