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2024-04-19 17:45:17, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_007284 1659 bp mRNA linear PRI 05-MAY-2013
DEFINITION Homo sapiens twinfilin actin-binding protein 2 (TWF2), mRNA.
ACCESSION NM_007284
VERSION NM_007284.3 GI:40068460
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 1659)
CONSRTM Psychiatric GWAS Consortium Bipolar Disorder Working Group
TITLE Large-scale genome-wide association analysis of bipolar disorder
identifies a new susceptibility locus near ODZ4
JOURNAL Nat. Genet. 43 (10), 977-983 (2011)
PUBMED 21926972
REMARK Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M
[added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo
[corrected to Meng, Fan]]
Publication Status: Online-Only
REFERENCE 2 (bases 1 to 1659)
AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
CONSRTM DREAM investigators
TITLE Variation at the NFATC2 locus increases the risk of
thiazolidinedione-induced edema in the Diabetes REduction
Assessment with ramipril and rosiglitazone Medication (DREAM) study
JOURNAL Diabetes Care 33 (10), 2250-2253 (2010)
PUBMED 20628086
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 3 (bases 1 to 1659)
AUTHORS Han,S., Lan,Q., Park,A.K., Lee,K.M., Park,S.K., Ahn,H.S.,
Shin,H.Y., Kang,H.J., Koo,H.H., Seo,J.J., Choi,J.E., Ahn,Y.O.,
Chanock,S.J., Kim,H., Rothman,N. and Kang,D.
TITLE Polymorphisms in innate immunity genes and risk of childhood
leukemia
JOURNAL Hum. Immunol. 71 (7), 727-730 (2010)
PUBMED 20438785
REMARK GeneRIF: Observational study of gene-disease association and
gene-gene interaction. (HuGE Navigator)
REFERENCE 4 (bases 1 to 1659)
AUTHORS Rajaraman,P., Brenner,A.V., Neta,G., Pfeiffer,R., Wang,S.S.,
Yeager,M., Thomas,G., Fine,H.A., Linet,M.S., Rothman,N.,
Chanock,S.J. and Inskip,P.D.
TITLE Risk of meningioma and common variation in genes related to innate
immunity
JOURNAL Cancer Epidemiol. Biomarkers Prev. 19 (5), 1356-1361 (2010)
PUBMED 20406964
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 1659)
AUTHORS Peng,A.W., Belyantseva,I.A., Hsu,P.D., Friedman,T.B. and Heller,S.
TITLE Twinfilin 2 regulates actin filament lengths in cochlear
stereocilia
JOURNAL J. Neurosci. 29 (48), 15083-15088 (2009)
PUBMED 19955359
REFERENCE 6 (bases 1 to 1659)
AUTHORS Nevalainen,E.M., Skwarek-Maruszewska,A., Braun,A., Moser,M. and
Lappalainen,P.
TITLE Two biochemically distinct and tissue-specific twinfilin isoforms
are generated from the mouse Twf2 gene by alternative promoter
usage
JOURNAL Biochem. J. 417 (2), 593-600 (2009)
PUBMED 18837697
REFERENCE 7 (bases 1 to 1659)
AUTHORS Yamada,S., Uchimura,E., Ueda,T., Nomura,T., Fujita,S.,
Matsumoto,K., Funeriu,D.P., Miyake,M. and Miyake,J.
TITLE Identification of twinfilin-2 as a factor involved in neurite
outgrowth by RNAi-based screen
JOURNAL Biochem. Biophys. Res. Commun. 363 (4), 926-930 (2007)
PUBMED 17910947
REMARK GeneRIF: twinfilin-2 is a protein that is involved in neurite
outgrowth
REFERENCE 8 (bases 1 to 1659)
AUTHORS Rush,J., Moritz,A., Lee,K.A., Guo,A., Goss,V.L., Spek,E.J.,
Zhang,H., Zha,X.M., Polakiewicz,R.D. and Comb,M.J.
TITLE Immunoaffinity profiling of tyrosine phosphorylation in cancer
cells
JOURNAL Nat. Biotechnol. 23 (1), 94-101 (2005)
PUBMED 15592455
REFERENCE 9 (bases 1 to 1659)
AUTHORS Vartiainen,M.K., Sarkkinen,E.M., Matilainen,T., Salminen,M. and
Lappalainen,P.
TITLE Mammals have two twinfilin isoforms whose subcellular localizations
and tissue distributions are differentially regulated
JOURNAL J. Biol. Chem. 278 (36), 34347-34355 (2003)
PUBMED 12807912
REFERENCE 10 (bases 1 to 1659)
AUTHORS Rohwer,A., Kittstein,W., Marks,F. and Gschwendt,M.
TITLE Cloning, expression and characterization of an A6-related protein
JOURNAL Eur. J. Biochem. 263 (2), 518-525 (1999)
PUBMED 10406962
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BI551353.1, AL136773.1 and
BC003161.1.
On Dec 18, 2003 this sequence version replaced gi:31543446.
Summary: The protein encoded by this gene was identified by its
interaction with the catalytic domain of protein kinase C-zeta. The
encoded protein contains an actin-binding site and an ATP-binding
site. It is most closely related to twinfilin (PTK9), a conserved
actin monomer-binding protein. [provided by RefSeq, Jul 2008].
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 :: AL136773.1, BC000327.2 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-33 BI551353.1 99-131
34-83 AL136773.1 1-50
84-1623 BC003161.1 1-1540
1624-1659 AL136773.1 1591-1626
FEATURES Location/Qualifiers
source 1..1659
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p21.1"
gene 1..1659
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/note="twinfilin actin-binding protein 2"
/db_xref="GeneID:11344"
/db_xref="HGNC:9621"
/db_xref="HPRD:08464"
/db_xref="MIM:607433"
exon 1..176
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/inference="alignment:Splign:1.39.8"
CDS 152..1201
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/note="protein tyrosine kinase 9-like (A6-related
protein); PTK9L protein tyrosine kinase 9-like (A6-related
protein); twinfilin-1-like protein; twinfilin,
actin-binding protein, homolog 2"
/codon_start=1
/product="twinfilin-2"
/protein_id="NP_009215.1"
/db_xref="GI:6005846"
/db_xref="CCDS:CCDS2849.1"
/db_xref="GeneID:11344"
/db_xref="HGNC:9621"
/db_xref="HPRD:08464"
/db_xref="MIM:607433"
/translation="
MAHQTGIHATEELKEFFAKARAGSVRLIKVVIEDEQLVLGASQEPVGRWDQDYDRAVLPLLDAQQPCYLLYRLDSQNAQGFEWLFLAWSPDNSPVRLKMLYAATRATVKKEFGGGHIKDELFGTVKDDLSFAGYQKHLSSCAAPAPLTSAERELQQIRINEVKTEISVESKHQTLQGLAFPLQPEAQRALQQLKQKMVNYIQMKLDLERETIELVHTEPTDVAQLPSRVPRDAARYHFFLYKHTHEGDPLESVVFIYSMPGYKCSIKERMLYSSCKSRLLDSVEQDFHLEIAKKIEIGDGAELTAEFLYDEVHPKQHAFKQAFAKPKGPGGKRGHKRLIRGPGENGDDS
"
misc_feature 155..157
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylalanine; propagated from
UniProtKB/Swiss-Prot (Q6IBS0.2); acetylation site"
misc_feature 161..577
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/note="N-terminal ADF domain of twinfilin and related
proteins; Region: ADF_Twf-N_like; cd11285"
/db_xref="CDD:200441"
misc_feature 164..169
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/note="putative G-actin interface [polypeptide binding];
other site"
/db_xref="CDD:200441"
misc_feature 191..193
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (Q6IBS0.2); acetylation site"
misc_feature 677..1084
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/note="C-terminal ADF domain of twinfilin and related
proteins; Region: ADF_Twf-C_like; cd11284"
/db_xref="CDD:200440"
misc_feature order(677..691,779..781,920..922,926..928,935..937,
947..952,956..964,968..973,977..979,1031..1033,1037..1039,
1043..1045)
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/note="G-actin binding interface [polypeptide binding];
other site"
/db_xref="CDD:200440"
misc_feature order(950..952,1046..1048,1055..1057)
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/note="putative F-actin interface [polypeptide binding];
other site"
/db_xref="CDD:200440"
misc_feature 1076..1078
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine; propagated from
UniProtKB/Swiss-Prot (Q6IBS0.2); phosphorylation site"
misc_feature 1076..1078
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/citation=[8]
misc_feature 1196..1198
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q6IBS0.2); phosphorylation site"
exon 177..254
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/inference="alignment:Splign:1.39.8"
exon 255..433
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/inference="alignment:Splign:1.39.8"
exon 434..529
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/inference="alignment:Splign:1.39.8"
variation 464
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/replace="c"
/replace="g"
/db_xref="dbSNP:1062714"
variation 525
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/replace="c"
/replace="t"
/db_xref="dbSNP:641606"
exon 530..634
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/inference="alignment:Splign:1.39.8"
variation 562
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/replace="c"
/replace="t"
/db_xref="dbSNP:164637"
exon 635..760
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/inference="alignment:Splign:1.39.8"
variation 739
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/replace="a"
/replace="g"
/db_xref="dbSNP:352143"
exon 761..911
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/inference="alignment:Splign:1.39.8"
STS 869..1062
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/standard_name="MARC_7313-7314:996687766:1"
/db_xref="UniSTS:269767"
exon 912..1033
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/inference="alignment:Splign:1.39.8"
exon 1034..1625
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/inference="alignment:Splign:1.39.8"
STS 1368..1544
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/standard_name="RH11729"
/db_xref="UniSTS:10344"
polyA_signal 1603..1608
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
polyA_site 1623
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
/experiment="experimental evidence, no additional details
recorded"
polyA_site 1625
/gene="TWF2"
/gene_synonym="A6r; A6RP; MSTP011; PTK9L"
ORIGIN
gctgggggcgggtcctgcggcaccgcccgggaagctgcgcgagggtcgacagcctccgccacatcctccacctctcttggtccagcgagcgttgccgggccagggtcaagcggagggctccgacggcgcggacggagcgaagcgccgagccatggcgcaccaaacgggcatccacgccacggaagagctgaaggaattctttgccaaggcacgggctggctctgtgcggctcatcaaggttgtgattgaggacgagcagctcgtgctgggtgcctcgcaggagccagtaggccgctgggatcaggactatgacagggccgtgctgccactgctggacgcccagcagccctgctacctgctctaccgcctcgactcacagaatgctcagggcttcgaatggctcttcctcgcctggtcgcctgataactcccccgtgcggctgaagatgctgtacgcggccacgcgggccacagtgaaaaaggagtttggaggtggccacatcaaggatgagctcttcgggactgtgaaggatgacctctcttttgctgggtaccagaaacacctgtcgtcctgtgcggcacctgccccgctgacctcggctgagagagagctccagcagatccgcattaacgaggtgaagacagagatcagtgtggaaagcaagcaccagaccctgcagggcctcgccttccccctgcagcctgaggcccagcgggcactccagcagctcaagcagaaaatggtcaactacatccagatgaagctggacctagagcgggaaaccattgagctggtgcacacagagcccacggatgtggcccagctgccctcccgggtgccccgagatgctgcccgctaccacttcttcctctacaagcacacccatgagggcgacccccttgagtctgtagtgttcatctactccatgccggggtacaagtgcagcatcaaggagcgaatgctctactccagctgcaagagccgcctcctcgactccgtggagcaggacttccatctggagatcgccaagaaaattgagattggcgatggggcagagctgacggcagagttcctctacgacgaggtgcaccccaagcaacacgccttcaagcaggccttcgccaagcccaagggcccagggggcaagcggggccataagcgcctcatccgcggcccgggtgaaaatggggatgacagctaggaggctggagcagggccggccacgtgtggactgtggggctgcccaccttccgctccctgccaccatcctccttcctgggctccaggaaagtgtttctgggaggtcaggagggctggcagctgaacgcacttgcagcgtccgagggccaccgggctggcattttgtgacccttccctgttgctgtccctgcatctcgtctgtgtgcccagggtgtccggggaccctgcctggctggcttaagggggctgggtcaggggcctggcatgaacctggcctcccggggagctgagactagggtcccagcacagcccagaaacctttggccacaagaagtggggtcagtcagggctggggcaggggtcactgcagtttgggatggttgaatgctgtattttctaaagaataaaatatttttaaatcaagaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:11344 -> Molecular function: GO:0003785 [actin monomer binding] evidence: ISS
GeneID:11344 -> Molecular function: GO:0005080 [protein kinase C binding] evidence: IPI
GeneID:11344 -> Molecular function: GO:0005524 [ATP binding] evidence: IDA
GeneID:11344 -> Molecular function: GO:0005546 [phosphatidylinositol-4,5-bisphosphate binding] evidence: ISS
GeneID:11344 -> Biological process: GO:0010592 [positive regulation of lamellipodium assembly] evidence: IMP
GeneID:11344 -> Biological process: GO:0010976 [positive regulation of neuron projection development] evidence: IMP
GeneID:11344 -> Biological process: GO:0030030 [cell projection organization] evidence: IEA
GeneID:11344 -> Biological process: GO:0030837 [negative regulation of actin filament polymerization] evidence: ISS
GeneID:11344 -> Biological process: GO:0032532 [regulation of microvillus length] evidence: IC
GeneID:11344 -> Biological process: GO:0032956 [regulation of actin cytoskeleton organization] evidence: IMP
GeneID:11344 -> Biological process: GO:0042989 [sequestering of actin monomers] evidence: ISS
GeneID:11344 -> Biological process: GO:0045773 [positive regulation of axon extension] evidence: IMP
GeneID:11344 -> Biological process: GO:0051016 [barbed-end actin filament capping] evidence: ISS
GeneID:11344 -> Biological process: GO:0071300 [cellular response to retinoic acid] evidence: IMP
GeneID:11344 -> Biological process: GO:0071363 [cellular response to growth factor stimulus] evidence: IMP
GeneID:11344 -> Cellular component: GO:0005737 [cytoplasm] evidence: NAS
GeneID:11344 -> Cellular component: GO:0005856 [cytoskeleton] evidence: IEA
GeneID:11344 -> Cellular component: GO:0030016 [myofibril] evidence: ISS
GeneID:11344 -> Cellular component: GO:0030027 [lamellipodium] evidence: ISS
GeneID:11344 -> Cellular component: GO:0030175 [filopodium] evidence: ISS
GeneID:11344 -> Cellular component: GO:0030426 [growth cone] evidence: IDA
GeneID:11344 -> Cellular component: GO:0032420 [stereocilium] evidence: ISS
GeneID:11344 -> Cellular component: GO:0048471 [perinuclear region of cytoplasm] evidence: ISS
by
@meso_cacase at
DBCLS
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