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2025-05-09 16:53:03, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001077182 1762 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens fascin homolog 2, actin-bundling protein, retinal
(Strongylocentrotus purpuratus) (FSCN2), transcript variant 2,
mRNA.
ACCESSION NM_001077182
VERSION NM_001077182.2 GI:268838270
KEYWORDS RefSeq.
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 1762)
AUTHORS Schafer,C., Faust,U., Kirchgessner,N., Merkel,R. and Hoffmann,B.
TITLE The filopodium: a stable structure with highly regulated repetitive
cycles of elongation and persistence depending on the actin
cross-linker fascin
JOURNAL Cell Adh Migr 5 (5), 431-438 (2011)
PUBMED 21975552
REMARK GeneRIF: The filopodium: a stable structure with highly regulated
repetitive cycles of elongation and persistence depending on the
actin cross-linker fascin
REFERENCE 2 (bases 1 to 1762)
AUTHORS Chan,C., Jankova,L., Fung,C.L., Clarke,C., Robertson,G.,
Chapuis,P.H., Bokey,L., Lin,B.P., Dent,O.F. and Clarke,S.
TITLE Fascin expression predicts survival after potentially curative
resection of node-positive colon cancer
JOURNAL Am. J. Surg. Pathol. 34 (5), 656-666 (2010)
PUBMED 20410808
REMARK GeneRIF: Fascin expression predicts survival after potentially
curative resection of node-positive colon cancer.
REFERENCE 3 (bases 1 to 1762)
AUTHORS Chen,S.F., Lin,C.Y., Chang,Y.C., Li,J.W., Fu,E., Chang,F.N.,
Lin,Y.L. and Nieh,S.
TITLE Effects of small interfering RNAs targeting Fascin on gene
expression in oral cancer cells
JOURNAL J. Oral Pathol. Med. 38 (9), 722-730 (2009)
PUBMED 19473443
REMARK GeneRIF: 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
REFERENCE 4 (bases 1 to 1762)
AUTHORS Hsu,K.F., Lin,C.K., Yu,C.P., Tzao,C., Lee,S.C., Lee,Y.Y., Tsai,W.C.
and Jin,J.S.
TITLE Cortactin, fascin, and survivin expression associated with
clinicopathological parameters in esophageal squamous cell
carcinoma
JOURNAL Dis. Esophagus 22 (5), 402-408 (2009)
PUBMED 19207554
REMARK GeneRIF: 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
REFERENCE 5 (bases 1 to 1762)
AUTHORS Kostopoulou,E., Daponte,A., Terzis,A., Nakou,M., Chiotoglou,I.,
Theodosiou,D., Chatzichristodoulou,C., Messinis,I.E. and
Koukoulis,G.
TITLE Fascin in ovarian epithelial tumors
JOURNAL Histol. Histopathol. 23 (8), 935-944 (2008)
PUBMED 18498068
REMARK GeneRIF: In ovarian tumors fascin is associated with certain
features of increased tumor aggressiveness.
REFERENCE 6 (bases 1 to 1762)
AUTHORS Wada,Y., Abe,T., Itabashi,T., Sato,H., Kawamura,M. and Tamai,M.
TITLE Autosomal dominant macular degeneration associated with 208delG
mutation in the FSCN2 gene
JOURNAL Arch. Ophthalmol. 121 (11), 1613-1620 (2003)
PUBMED 14609921
REMARK GeneRIF: The 208delG mutation in the FSCN2 gene produces not only
autosomal dominant retinitis pigmentosa but also ADMD (autosomal
dominant macular degeneration)
REFERENCE 7 (bases 1 to 1762)
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 8 (bases 1 to 1762)
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 9 (bases 1 to 1762)
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 10 (bases 1 to 1762)
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
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AA059324.1, AF030165.1,
AC139149.6 and AI189621.1.
This sequence is a reference standard in the RefSeqGene project.
On Nov 19, 2009 this sequence version replaced gi:116295250.
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 (2) represents the longer
transcript and encodes the longer isoform (2).
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##
RNAseq introns :: single sample supports all introns ERS025086,
ERS025091 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-5 AA059324.1 1-5
6-98 AF030165.1 1-93
99-107 AC139149.6 2925-2933 c
108-1104 AF030165.1 103-1099
1105-1569 AI189621.1 1-465 c
1570-1762 AF030165.1 1493-1685
FEATURES Location/Qualifiers
source 1..1762
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q25"
gene 1..1762
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/note="fascin homolog 2, actin-bundling protein, retinal
(Strongylocentrotus purpuratus)"
/db_xref="GeneID:25794"
/db_xref="HGNC:3960"
/db_xref="MIM:607643"
exon 1..967
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/inference="alignment:Splign:1.39.8"
variation 5
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:112158827"
STS 85..1733
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/db_xref="UniSTS:486070"
misc_feature 88..90
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/note="upstream in-frame stop codon"
STS 96..1737
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/db_xref="UniSTS:482429"
variation 103
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:2075720"
variation 117
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="c"
/db_xref="dbSNP:372264376"
CDS 142..1692
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/note="isoform 2 is encoded by transcript variant 2;
fascin-2"
/codon_start=1
/product="fascin-2 isoform 2"
/protein_id="NP_001070650.1"
/db_xref="GI:116295251"
/db_xref="CCDS:CCDS45810.1"
/db_xref="GeneID:25794"
/db_xref="HGNC:3960"
/db_xref="MIM:607643"
/translation="
MPTNGLHQVLKIQFGLVNDTDRYLTAESFGFKVNASAPSLKRKQTWVLEPDPGQGTAVLLRSSHLGRYLSAEEDGRVACEAEQPGRDCRFLVLPQPDGRWVLRSEPHGRFFGGTEDQLSCFATAVSPAELWTVHLAIHPQAHLLSVSRRRYVHLCPREDEMAADGDKPWGVDALLTLIFRSRRYCLKSCDSRYLRSDGRLVWEPEPRACYTLEFKAGKLAFKDCDGHYLAPVGPAGTLKAGRNTRPGKDELFDLEESHPQVVLVAANHRYVSVRQGVNVSANQDDELDHETFLMQIDQETKKCTFYSSTGGYWTLVTHGGIHATATQVSANTMFEMEWRGRRVALKASNGRYVCMKKNGQLAAISDFVGPPPRPAWTGKVAGGAAQQTLSPPGKDEEFTLKLINRPILVLRGLDGFVCHHRGSNQLDTNRSVYDVFHLSFSDGAYRIRGRDGGFWYTGSHGSVCSDGERAEDFVFEFRERGRLAIRARSGKYLRGGASGLLRADADAPAGTALWEY
"
misc_feature 178..540
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/note="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...;
Region: Fascin; cd00257"
/db_xref="CDD:29332"
misc_feature 256..258
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/note="PKC phosphorylation site [posttranslational
modification]; other site"
/db_xref="CDD:29332"
misc_feature 553..903
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/note="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...;
Region: Fascin; cd00257"
/db_xref="CDD:29332"
misc_feature 640..642
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/note="PKC phosphorylation site [posttranslational
modification]; other site"
/db_xref="CDD:29332"
misc_feature 913..1251
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/note="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...;
Region: Fascin; cd00257"
/db_xref="CDD:29332"
misc_feature 994..996
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/note="PKC phosphorylation site [posttranslational
modification]; other site"
/db_xref="CDD:29332"
misc_feature 1354..1689
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/note="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...;
Region: Fascin; cd00257"
/db_xref="CDD:29332"
misc_feature 1435..1437
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/note="PKC phosphorylation site [posttranslational
modification]; other site"
/db_xref="CDD:29332"
variation 171
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:377034060"
variation 189
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:199668780"
variation 190
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:137853900"
variation 197
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="t"
/db_xref="dbSNP:201652340"
variation 205
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:368996304"
variation 206
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:200258773"
variation 213
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace=""
/replace="g"
/db_xref="dbSNP:376633374"
variation 228
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:377085709"
variation 253
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:370432174"
variation 271
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:200925863"
variation 279
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="g"
/replace="t"
/db_xref="dbSNP:376138127"
variation 287
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="c"
/db_xref="dbSNP:200600577"
variation 291
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="g"
/db_xref="dbSNP:184519759"
variation 308
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:374436472"
variation 323
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="g"
/replace="t"
/db_xref="dbSNP:368665227"
variation 351
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="g"
/replace="t"
/db_xref="dbSNP:199599072"
variation 364
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:201226132"
variation 368
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:376532437"
variation 392
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:373682711"
variation 398..401
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace=""
/replace="gtga"
/db_xref="dbSNP:144080430"
variation 400..401
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace=""
/replace="c"
/db_xref="dbSNP:368451922"
variation 450
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:34126129"
variation 474
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:117946784"
variation 481
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:202158770"
variation 498
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:189437871"
variation 501
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:372408296"
variation 521
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:377179386"
variation 522
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:34454351"
variation 538
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="g"
/db_xref="dbSNP:373996403"
variation 553
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:143796236"
variation 557
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:369192058"
variation 577
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:372751268"
variation 587
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:181961770"
variation 594
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:73367596"
variation 608
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:200503363"
variation 609
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:199752482"
variation 611
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:199574936"
variation 618
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:371033160"
variation 627
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:375636321"
variation 628
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:367599003"
variation 633
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:370382419"
variation 634
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:112994063"
variation 657
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:375067866"
variation 660
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:368029027"
variation 679
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:200332556"
variation 715
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:377025075"
variation 729
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:368621796"
variation 736
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:372191222"
variation 737
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:201632465"
variation 769
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:376778677"
variation 774
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:75815349"
variation 786
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:372547724"
variation 804
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="g"
/db_xref="dbSNP:374822744"
variation 812
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:369222151"
variation 815
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="c"
/db_xref="dbSNP:75057462"
variation 817
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:372923979"
variation 832
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:150620080"
variation 843
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:371255330"
variation 844
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:199541595"
variation 859
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:370156011"
variation 866
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="g"
/replace="t"
/db_xref="dbSNP:78593950"
variation 873
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:34797307"
variation 879
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:34567655"
variation 905
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="c"
/db_xref="dbSNP:370581176"
variation 920
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:374814454"
variation 924
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:368281226"
variation 941..942
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace=""
/replace="c"
/db_xref="dbSNP:372385538"
variation 946
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:372447325"
variation 947
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:201099468"
variation 949
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:374441955"
variation 950
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:368603459"
variation 961
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:372368597"
variation 965
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:374697213"
exon 968..1124
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/inference="alignment:Splign:1.39.8"
variation 970
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:181420326"
variation 1008
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:368687488"
variation 1009
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:373043784"
variation 1028
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:376328590"
variation 1107
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:367734858"
variation 1108
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:186367879"
exon 1125..1246
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/inference="alignment:Splign:1.39.8"
variation 1166
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:374441539"
variation 1188
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:73369203"
variation 1192
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:371223700"
variation 1193
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:374338872"
variation 1197
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:367827022"
variation 1198
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:144409045"
variation 1210
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="c"
/db_xref="dbSNP:376890749"
variation 1222
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:202063383"
variation 1227
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:368154602"
variation 1233
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:188142101"
variation 1236
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:201346660"
variation 1240
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:200938099"
variation 1241
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:370080793"
variation 1246
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:376938035"
exon 1247..1486
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/inference="alignment:Splign:1.39.8"
variation 1255
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="c"
/db_xref="dbSNP:370629244"
variation 1284
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:191291916"
variation 1313
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:11870517"
variation 1337
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="g"
/db_xref="dbSNP:183485967"
variation 1362
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="c"
/db_xref="dbSNP:371446245"
variation 1379
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:201628937"
variation 1397
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:367604773"
variation 1401
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="c"
/db_xref="dbSNP:370208434"
variation 1402
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:375077430"
variation 1434
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="c"
/db_xref="dbSNP:367955776"
variation 1440
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:1802103"
variation 1443
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:182593453"
exon 1487..1742
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/inference="alignment:Splign:1.39.8"
variation 1511
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:186619653"
variation 1522
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:368990075"
variation 1542
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:372555456"
variation 1585
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:374827376"
variation 1659
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:143561119"
polyA_signal 1720..1725
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
polyA_site 1742
/gene="FSCN2"
/gene_synonym="RFSN; RP30"
ORIGIN
gcaggcagggggttcgtgacgccggctgggtctgggggctgtgggccagccgagccgacccgggcttctgggggaccgcgggggccgtgagcactcagagggcgcatcccaggcccctccggggacccggccagcctgaagatgccgacgaacggcctgcaccaggtgctgaagatccagtttggcctcgtcaacgacactgaccgctacctgacagctgagagcttcggcttcaaggtcaatgcctcggcacccagcctcaagaggaagcagacctgggtgctggaacccgacccaggacaaggcacggctgtgctgctccgcagcagccacctgggccgctacctgtcggcagaagaggacgggcgcgtggcctgtgaggcagagcagccgggccgtgactgccgcttcctggtcctgccgcagccagatgggcgctgggtgctgcggtccgagccgcacggccgcttcttcggaggcaccgaggaccagctgtcctgcttcgccacagccgtttccccggccgagctgtggaccgtgcacctggccatccacccgcaggcccacctgctgagcgtgagccggcggcgctacgtgcacctgtgcccgcgggaggacgagatggccgcagacggagacaagccctggggcgtggacgccctcctcaccctcatcttccggagccgacggtactgcctcaagtcctgtgacagccgctacctgcgcagcgacggccgtctggtctgggagcctgagccccgtgcctgctacacgctggagttcaaggcgggcaagctggccttcaaggactgcgacggccactacctggcacccgtggggcccgcaggcaccctcaaggccggccgaaacacgcgacctggcaaggatgagctctttgatctggaggagagtcacccacaggtggtgctggtggctgccaaccaccgctacgtctctgtgcggcaaggggtcaacgtctcagccaatcaggatgatgaactagaccacgagaccttcctgatgcaaattgaccaggagacaaagaagtgcaccttctattccagcactgggggctactggaccctggtcacccatgggggcattcacgccacagccacacaagtttctgccaacaccatgtttgagatggagtggcgtggccggcgggtagcactcaaagccagcaacgggcgctacgtgtgcatgaagaagaatgggcagctggcggctatcagcgattttgtcgggcccccaccccgcccggcctggacagggaaggtggcgggaggggcagcgcagcagacgctctccccgccaggcaaggacgaagagttcaccctcaagctcatcaaccggcccatcctggtgctgcgcggcctggacggcttcgtctgccaccaccgcggctccaaccagctggacaccaaccgctccgtctacgacgtcttccacctgagcttcagcgacggcgcctaccggatccgaggccgcgacggagggttctggtacacgggcagccacggcagcgtgtgcagcgacggcgaacgcgccgaggacttcgtcttcgagttccgtgagcgcggccgcctggccatccgcgcccggagcggcaagtacctgcgcggcggcgcctcgggcctgctgcgggccgatgccgacgccccggccgggaccgcgctttgggagtactgaggccgcgcccagaccagcctgtcgcgcattaaaaccgtgtctctcccgcaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:25794 -> Molecular function: GO:0003779 [actin binding] evidence: ISS
GeneID:25794 -> Molecular function: GO:0030674 [protein binding, bridging] evidence: IEA
GeneID:25794 -> Molecular function: GO:0051015 [actin filament binding] evidence: ISS
GeneID:25794 -> Biological process: GO:0007601 [visual perception] evidence: TAS
GeneID:25794 -> Biological process: GO:0009653 [anatomical structure morphogenesis] evidence: TAS
GeneID:25794 -> Biological process: GO:0030036 [actin cytoskeleton organization] evidence: ISS
GeneID:25794 -> Biological process: GO:0051017 [actin filament bundle assembly] evidence: TAS
GeneID:25794 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
GeneID:25794 -> Cellular component: GO:0015629 [actin cytoskeleton] evidence: ISS
GeneID:25794 -> Cellular component: GO:0032420 [stereocilium] evidence: IEA
by
@meso_cacase at
DBCLS
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