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

    Gene ID: 25794, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FSCN2 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81515062..81537130)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82430273..82454442)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79495403..79504156)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr17.6006 Neighboring gene long intergenic non-protein coding RNA 1971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9127 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79455547-79456267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79456989-79457708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79460397-79460898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79466919-79467642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79482073-79482696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79482697-79483322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79483947-79484572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79484573-79485196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12970 Neighboring gene actin gamma 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79495325-79495851 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79495852-79496377 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79504525-79505496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79507853-79508353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79516844-79517639 Neighboring gene FA core complex associated protein 100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9136 Neighboring gene uncharacterized LOC124904085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79520435-79521010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79525737-79526238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79526239-79526738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12972 Neighboring gene NPL4 homolog, ubiquitin recognition factor Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79537592-79537800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12974 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79585853-79586396 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:79586397-79586940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9140

    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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_015964.2 RefSeqGene

      Range
      18317..27070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077182.3NP_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_012418.4NP_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: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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81515062..81537130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524590.3XP_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_047435720.1XP_047291676.1  fascin-2 isoform X1

    3. XM_011524587.3XP_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
    4. XM_047435721.1XP_047291677.1  fascin-2 isoform X1

      UniProtKB/Swiss-Prot
      A0AVC4, A8MRA6, O14926

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791805.1 Reference GRCh38.p14 PATCHES

      Range
      184582..185563
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82430273..82454442
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315661.1XP_054171636.1  fascin-2 isoform X1

      UniProtKB/Swiss-Prot
      A0AVC4, A8MRA6, O14926
    2. XM_054315656.1XP_054171631.1  fascin-2 isoform X1

    3. XM_054315658.1XP_054171633.1  fascin-2 isoform X1

    4. XM_054315657.1XP_054171632.1  fascin-2 isoform X1

    5. XM_054315660.1XP_054171635.1  fascin-2 isoform X1

      UniProtKB/Swiss-Prot
      A0AVC4, A8MRA6, O14926
    6. XM_054315659.1XP_054171634.1  fascin-2 isoform X1