LOCUS       NM_012418               1684 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens fascin actin-bundling protein 2, retinal (FSCN2),
            transcript variant 1, mRNA.
ACCESSION   NM_012418
VERSION     NM_012418.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1684)
  AUTHORS   Cristea,I., Abarca,H., Christensen Mellgren,A.E., Trubnykova,M.,
            Mehrasa,R., Peters,D.J.M., Houge,G., Hennekam,R.C.M., Rodahl,E.,
            Bruland,O. and Bredrup,C.
  TITLE     A Pellino-2 variant is associated with constitutive NLRP3
            inflammasome activation in a family with ocular pterygium-digital
            keloid dysplasia
  JOURNAL   FEBS Lett 597 (9), 1290-1299 (2023)
   PUBMED   36776133
REFERENCE   2  (bases 1 to 1684)
  AUTHORS   Yamada,Y., Kurata,A., Fujita,K. and Kuroda,M.
  TITLE     Fascin as a useful marker for cancer-associated fibroblasts in
            invasive lung adenocarcinoma
  JOURNAL   Medicine (Baltimore) 100 (35), e27162 (2021)
   PUBMED   34477172
  REMARK    GeneRIF: Fascin as a useful marker for cancer-associated
            fibroblasts in invasive lung adenocarcinoma.
REFERENCE   3  (bases 1 to 1684)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1684)
  AUTHORS   Kang,J., Wang,J., Yao,Z., Hu,Y., Ma,S., Fan,Q., Gao,F., Sun,Y. and
            Sun,J.
  TITLE     Fascin induces melanoma tumorigenesis and stemness through
            regulating the Hippo pathway
  JOURNAL   Cell Commun Signal 16 (1), 37 (2018)
   PUBMED   29970086
  REMARK    GeneRIF: Fascin induces melanoma tumorigenesis and stemness through
            regulating the Hippo pathway
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1684)
  AUTHORS   Onder,S., Taskin,O.C., Sen,F., Topuz,S., Kucucuk,S., Sozen,H.,
            Ilhan,R., Tuzlali,S. and Yavuz,E.
  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
  JOURNAL   Medicine (Baltimore) 96 (10), e6248 (2017)
   PUBMED   28272224
  REMARK    GeneRIF: diffuse expression in 82% of
            undifferentiated/dedifferentiated endometrial carcinomas
REFERENCE   6  (bases 1 to 1684)
  AUTHORS   Wada,Y., Abe,T., Takeshita,T., Sato,H., Yanashima,K. and Tamai,M.
  TITLE     Mutation of human retinal fascin gene (FSCN2) causes autosomal
            dominant retinitis pigmentosa
  JOURNAL   Invest Ophthalmol Vis Sci 42 (10), 2395-2400 (2001)
   PUBMED   11527955
REFERENCE   7  (bases 1 to 1684)
  AUTHORS   Saishin,Y., Ishikawa,R., Ugawa,S., Guo,W., Ueda,T., Morimura,H.,
            Kohama,K., Shimizu,H., Tano,Y. and Shimada,S.
  TITLE     Retinal fascin: functional nature, subcellular distribution, and
            chromosomal localization
  JOURNAL   Invest Ophthalmol Vis Sci 41 (8), 2087-2095 (2000)
   PUBMED   10892848
REFERENCE   8  (bases 1 to 1684)
  AUTHORS   Tubb,B.E., Bardien-Kruger,S., Kashork,C.D., Shaffer,L.G.,
            Ramagli,L.S., Xu,J., Siciliano,M.J. and Bryan,J.
  TITLE     Characterization of human retinal fascin gene (FSCN2) at 17q25:
            close physical linkage of fascin and cytoplasmic actin genes
  JOURNAL   Genomics 65 (2), 146-156 (2000)
   PUBMED   10783262
REFERENCE   9  (bases 1 to 1684)
  AUTHORS   Bardien-Kruger,S., Greenberg,J., Tubb,B., Bryan,J., Queimado,L.,
            Lovett,M. and Ramesar,R.S.
  TITLE     Refinement of the RP17 locus for autosomal dominant retinitis
            pigmentosa, construction of a YAC contig and investigation of the
            candidate gene retinal fascin
  JOURNAL   Eur J Hum Genet 7 (3), 332-338 (1999)
   PUBMED   10234509
REFERENCE   10 (bases 1 to 1684)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139149.6, AA059324.1 and
            AF030165.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_012418.3.
            
            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].
            
            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).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF030165.1, BC126295.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000417245.7/ ENSP00000388716.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AC139149.6         3032-3045           c
            15-19               AA059324.1         1-5
            20-112              AF030165.1         1-93
            113-121             AC139149.6         2925-2933           c
            122-1684            AF030165.1         103-1665
FEATURES             Location/Qualifiers
     source          1..1684
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..1684
                     /gene="FSCN2"
                     /gene_synonym="RFSN; RP30"
                     /note="fascin actin-bundling protein 2, retinal"
                     /db_xref="GeneID:25794"
                     /db_xref="HGNC:HGNC:3960"
                     /db_xref="MIM:607643"
     exon            1..981
                     /gene="FSCN2"
                     /gene_synonym="RFSN; RP30"
                     /inference="alignment:Splign:2.1.0"
     CDS             156..1634
                     /gene="FSCN2"
                     /gene_synonym="RFSN; RP30"
                     /note="isoform 1 is encoded by transcript variant 1;
                     fascin-2; fascin homolog 2, actin-bundling protein,
                     retinal"
                     /codon_start=1
                     /product="fascin-2 isoform 1"
                     /protein_id="NP_036550.1"
                     /db_xref="CCDS:CCDS45811.1"
                     /db_xref="GeneID:25794"
                     /db_xref="HGNC:HGNC:3960"
                     /db_xref="MIM:607643"
                     /translation="MPTNGLHQVLKIQFGLVNDTDRYLTAESFGFKVNASAPSLKRKQ
                     TWVLEPDPGQGTAVLLRSSHLGRYLSAEEDGRVACEAEQPGRDCRFLVLPQPDGRWVL
                     RSEPHGRFFGGTEDQLSCFATAVSPAELWTVHLAIHPQAHLLSVSRRRYVHLCPREDE
                     MAADGDKPWGVDALLTLIFRSRRYCLKSCDSRYLRSDGRLVWEPEPRACYTLEFKAGK
                     LAFKDCDGHYLAPVGPAGTLKAGRNTRPGKDELFDLEESHPQVVLVAANHRYVSVRQG
                     VNVSANQDDELDHETFLMQIDQETKKCTFYSSTGGYWTLVTHGGIHATATQVSANTMF
                     EMEWRGRRVALKASNGRYVCMKKNGQLAAISDFVGKDEEFTLKLINRPILVLRGLDGF
                     VCHHRGSNQLDTNRSVYDVFHLSFSDGAYRIRGRDGGFWYTGSHGSVCSDGERAEDFV
                     FEFRERGRLAIRARSGKYLRGGASGLLRADADAPAGTALWEY"
     exon            982..1138
                     /gene="FSCN2"
                     /gene_synonym="RFSN; RP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1260
                     /gene="FSCN2"
                     /gene_synonym="RFSN; RP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1428
                     /gene="FSCN2"
                     /gene_synonym="RFSN; RP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..1684
                     /gene="FSCN2"
                     /gene_synonym="RFSN; RP30"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1662..1667
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FSCN2"
                     /gene_synonym="RFSN; RP30"
                     /note="hexamer: ATTAAA"
     polyA_site      1684
                     /gene="FSCN2"
                     /gene_synonym="RFSN; RP30"
                     /note="major polyA site"
ORIGIN      
        1 agaggcgggt cagagcaggc agggggttcg tgacgccggc tgggtctggg ggctgtgggc
       61 cagccgagcc gacccgggct tctgggggac cgcgggggcc gtgagcactc agagggcgca
      121 tcccaggccc ctccggggac ccggccagcc tgaagatgcc gacgaacggc ctgcaccagg
      181 tgctgaagat ccagtttggc ctcgtcaacg acactgaccg ctacctgaca gctgagagct
      241 tcggcttcaa ggtcaatgcc tcggcaccca gcctcaagag gaagcagacc tgggtgctgg
      301 aacccgaccc aggacaaggc acggctgtgc tgctccgcag cagccacctg ggccgctacc
      361 tgtcggcaga agaggacggg cgcgtggcct gtgaggcaga gcagccgggc cgtgactgcc
      421 gcttcctggt cctgccgcag ccagatgggc gctgggtgct gcggtccgag ccgcacggcc
      481 gcttcttcgg aggcaccgag gaccagctgt cctgcttcgc cacagccgtt tccccggccg
      541 agctgtggac cgtgcacctg gccatccacc cgcaggccca cctgctgagc gtgagccggc
      601 ggcgctacgt gcacctgtgc ccgcgggagg acgagatggc cgcagacgga gacaagccct
      661 ggggcgtgga cgccctcctc accctcatct tccggagccg acggtactgc ctcaagtcct
      721 gtgacagccg ctacctgcgc agcgacggcc gtctggtctg ggagcctgag ccccgtgcct
      781 gctacacgct ggagttcaag gcgggcaagc tggccttcaa ggactgcgac ggccactacc
      841 tggcacccgt ggggcccgca ggcaccctca aggccggccg aaacacgcga cctggcaagg
      901 atgagctctt tgatctggag gagagtcacc cacaggtggt gctggtggct gccaaccacc
      961 gctacgtctc tgtgcggcaa ggggtcaacg tctcagccaa tcaggatgat gaactagacc
     1021 acgagacctt cctgatgcaa attgaccagg agacaaagaa gtgcaccttc tattccagca
     1081 ctgggggcta ctggaccctg gtcacccatg ggggcattca cgccacagcc acacaagttt
     1141 ctgccaacac catgtttgag atggagtggc gtggccggcg ggtagcactc aaagccagca
     1201 acgggcgcta cgtgtgcatg aagaagaatg ggcagctggc ggctatcagc gattttgtcg
     1261 gcaaggacga agagttcacc ctcaagctca tcaaccggcc catcctggtg ctgcgcggcc
     1321 tggacggctt cgtctgccac caccgcggct ccaaccagct ggacaccaac cgctccgtct
     1381 acgacgtctt ccacctgagc ttcagcgacg gcgcctaccg gatccgaggc cgcgacggag
     1441 ggttctggta cacgggcagc cacggcagcg tgtgcagcga cggcgaacgc gccgaggact
     1501 tcgtcttcga gttccgtgag cgcggccgcc tggccatccg cgcccggagc ggcaagtacc
     1561 tgcgcggcgg cgcctcgggc ctgctgcggg ccgatgccga cgccccggcc gggaccgcgc
     1621 tttgggagta ctgaggccgc gcccagacca gcctgtcgcg cattaaaacc gtgtctctcc
     1681 cgca
//
