Format

Send to:

Choose Destination

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

Gene ID: 25794, updated on 18-May-2019

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
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

Genomic context

See FSCN2 in Genome Data Viewer
Location:
17q25.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (81513019..81537130)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79481022..79504156)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1971 Neighboring gene actin gamma 1 Neighboring gene FA core complex associated protein 100 Neighboring gene NPL4 homolog, ubiquitin recognition factor

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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

  1. NG_015964.1 RefSeqGene

    Range
    5001..13740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001077182.2NP_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:138254
    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:266370
    Fascin; Fascin domain
  2. NM_012418.3NP_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
    O14926
    Related
    ENSP00000388716.2, ENST00000417245.6
    Conserved Domains (2) summary
    cd00257
    Location:138254
    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:266376
    Fascin; Fascin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    81513019..81537130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524590.2XP_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:138254
    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:266370
    Fascin; Fascin domain
  2. XM_011524587.2XP_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:138254
    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:266370
    Fascin; Fascin domain

RNA

  1. XR_001752466.1 RNA Sequence

Support Center