LOCUS NG_012740 11442 bp DNA linear PRI 20-AUG-2009 DEFINITION Homo sapiens cofilin 2 (muscle) (CFL2) on chromosome 14. ACCESSION NG_012740 VERSION NG_012740.1 GI:256220658 KEYWORDS RefSeqGene. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL355885.4. Summary: This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq]. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-11442 AL355885.4 19907-31348 c FEATURES Location/Qualifiers source 1..11442 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="14" /map="14q12" gene 5001..9442 /gene="CFL2" /gene_synonym="NEM7" /note="cofilin 2 (muscle)" /db_xref="GeneID:1073" /db_xref="HGNC:1875" /db_xref="MIM:601443" mRNA join(5001..5286,6263..6570,6688..6764,6847..9442) /gene="CFL2" /gene_synonym="NEM7" /product="cofilin 2 (muscle)" /transcript_id="NM_138638.4" /db_xref="GI:254692874" /db_xref="GeneID:1073" /db_xref="HGNC:1875" /db_xref="MIM:601443" exon 5001..5286 /gene="CFL2" /gene_synonym="NEM7" /inference="alignment:Splign" /number=1a CDS join(5284..5286,6263..6570,6688..6764,6847..6959) /gene="CFL2" /gene_synonym="NEM7" /codon_start=1 /protein_id="NP_619579.1" /db_xref="GI:33946278" /db_xref="CCDS:CCDS9649.1" /db_xref="GeneID:1073" /db_xref="HGNC:1875" /db_xref="MIM:601443" exon 6263..6570 /gene="CFL2" /gene_synonym="NEM7" /inference="alignment:Splign" /number=3c exon 6688..6764 /gene="CFL2" /gene_synonym="NEM7" /inference="alignment:Splign" /number=4 exon 6847..9442 /gene="CFL2" /gene_synonym="NEM7" /inference="alignment:Splign" /number=5 STS 7112..7336 /gene="CFL2" /gene_synonym="NEM7" /standard_name="D14S664E" /db_xref="UniSTS:151562" STS 7545..7711 /gene="CFL2" /gene_synonym="NEM7" /standard_name="EST14A7" /db_xref="UniSTS:263108" STS 7661..7805 /gene="CFL2" /gene_synonym="NEM7" /standard_name="D14S1299" /db_xref="UniSTS:48317" STS 8730..8862 /gene="CFL2" /gene_synonym="NEM7" /standard_name="RH102370" /db_xref="UniSTS:96704" STS 9144..9338 /gene="CFL2" /gene_synonym="NEM7" /standard_name="SHGC-132145" /db_xref="UniSTS:182778" STS 9146..9339 /gene="CFL2" /gene_synonym="NEM7" /standard_name="D14S1319" /db_xref="UniSTS:71171" STS 9152..9339 /gene="CFL2" /gene_synonym="NEM7" /standard_name="D14S1319" /db_xref="UniSTS:71172" ORIGIN 1 ctcaggagac tgaggtggga gcatcaccta agcccaggga ggtcaagcct gcagtgagcc 61 atgatcgtgc cactgcactc cagcctggat gatggtgaga ccctgtctca aataaataaa 121 taagtaaatt taaaaaataa aaacaaaaat aaaatctact gtgttttgtt ttgttttgtt 181 tttttaagaa agtctcactc tgtcgcccag gctggagtgc agtggctcag tctcagctca 241 ctgtagcctc cacctcctgg gttcaagcca tcctcctgcc tcagccctcc caagtagctg 301 gaactatagg catgtgccac tacacccgcc tgattttttt tattttttgt agagatgggg 361 tctcaccgtg ttgcccaggc tggtcttgaa ctcctgagct caagcaatcc acccaccttg 421 gtctcccaaa gtgctaggat aacaggcatg agccatcacg cccggccaaa atctactgct 481 tttgtaataa agtaagttaa acaaaggagt gtttaataaa ttactagcaa gtttcttttc 541 tcagatgacg ttttatatgg tttgtataat ttaggtaacc agttgctatt tactatcaca 601 attcaattac tatcaatgca ttattaatta acattgtgat tgaggtttta caaataactg 661 gcgggtgaat ctgataaatt gtgtctgagt taataagttg aagctggtat gttttacacc 721 attgaagttg gtaattatag tttgagacca ttttgaacta catttcacta attattgcat 781 ttcaatactg ctacctcttc attaccactt catgtgacac agattactga taaattcctt 841 tattgtgagg tcattctcct aaattagaaa gaaccagaga tggcatatgt aagacccaaa 901 gtgagtttgt ggatgagagt gagtcacaga gatcagactc caaaaaaaca cctcctactg 961 tatttatttt ctagttctaa attcaaactt ggatttagaa aaatatacga cttgactcct 1021 catcagtctt tttttttttt ttttttgaga tgagtctcac ttgtcgccca ggctggagtg 1081 cagtggtgca atctcggctc actgcaagct ccacctcccg ggttcacgcc attctcctgc 1141 ctcagcctcc tgagtagctg ggactacagg cgcccgccac cacgcccggc taactttttg 1201 tatttttagt agagacgggg tttcaccgtg ttagccagga tggtctcgat ctcctgacct 1261 catgatccgc ccgcctcagc ctcccaaagt gctgggatta caggcgtgag ccactgcgcc 1321 cggcccctca tcagtccttt agctcaggcg tgggttagga aggatatgtc agagttagga 1381 aggcatgtcg gtagaaaggt acattttgaa gtggtagtgt ctttatgctt acatttgtct 1441 ttgtcaggaa gtggctgtgg gagctgagaa tgtgatgtct cttgacaggg agtagggctt 1501 acacacagtt tgtctgcata atcttccaga ttcactgttt tagatagttc tttcaaactt 1561 ttacatgcca cagaacctcc atccacattg tttctcaggt gtggtggctc atgcctgtaa 1621 ttccagcact ttaggaggcc aaggcgggag gactgcttga gcccagaagt tgagaccagc 1681 ctgggcaaca tagtaagacc cccatctctg taagtgagta agtaaatata tacataatag 1741 attgtttctt gggggaatag attatatata ttaagggatg atcacctttc caatttttta 1801 aagaatcctg agtaaacaaa ctttagctga gtcttcagaa tcaatgagga ttgggacggc 1861 ttcacgctat tgcctatgag ttgataaaat cagtgccttc atcttcactc tgctggtggt 1921 aataacagct ccagggttcc tatttctgtg ctggacaagg gctttacata cattatctct 1981 cttgatcctc cccataatcc tgagagggaa gaggtcatat aatccctatt ttacacatga 2041 tttggaaact gagccttatg gcagctaaat caatggcctg aaattgcacc gctactagtg 2101 tctgagctga gattacattc agaggttact ctcactaagt tcctaatagt tgtcactgcc 2161 atctatgtgt ggtctagtaa atggataatt atagcttaga tgtttacagc acaaaagtat 2221 ctagtaccac attgttcggg gtccctctgt cacacctatt aattgtttgc ttgagcttga 2281 aattgctcag aacagttgta tggtaggcag aataatgcaa cccctcctca caaaggtgtt 2341 cctgtcctaa cctccaaagt ctttgaatgt taacttgtac gaaaaaacag actttgcaga 2401 tgtgattaag ttaaggatct tgagaggggg aattatccta aactaccaag tggggtccaa 2461 agtaaccata atggtcctta taagtggaag acggaggcag gagagagaga gtcagaggaa 2521 atgtgatgac tgaggcagag gtcagagtga tgcgactgct gcctggggcc acaggccaaa 2581 gatgatgggc aggtcgagtg tggtggctcg cacctgtaat cccagcactt tgggaggcca 2641 aggtgggcgg atcacaaggt caggagatca agaccatcct cgctaacacg gtgaaacccc 2701 atctctacta aaaatacaaa aaattagccg ggcatggtgg cgggtgcctg tagtcccagc 2761 tactcaggag gctaaggcag gagaatggtg tgaacccagg aggcggagtt tgcagtgagc 2821 cgagatagca ccactgcact ccagcctggg tgacagagtg agactccatc tcaaaaaaaa 2881 aaaaaaaaaa tgatgggcag cctctagatg ttggaaaagg caaaggagtc tcccactaca 2941 gtctcttgac tttagcccca tcaggcttat ttctgctagt tgtggtggtt catgcctgta 3001 atcccaacta ctcgggaggc tgaggcagga ggctcacttg aggccaggag tatgaggctg 3061 cagtgagcta tgatcacatc ctgcactcca gcaacctggg tgggcaacag aaccagagac 3121 tatctcttaa atatatatat atagagagag agacttgttt ctctgactct gtaagaccat 3181 aaataataaa tttgtgttgt tttaaacaag taattttatg gtaatttgtt atagcaacag 3241 tcgaacgcta atacatgtgg tatctgacac tcagatcccc ctccactaca cagtgaccaa 3301 aattcatgca gcaatgattg gcaatgctgc ccctttacca agtggtggta agttctggtt 3361 ataactcaca gaggtgaagg caggaagctg ctactggccc tgacattctc agtgccatgc 3421 tcacaagggc atgtagaaag gcttcacaat tttcagaagc ttccttttca ttctctttac 3481 agcactaaag catcttaaat gtattatttc agcacctatt aagcacctac tatctgtcag 3541 gttccagaaa ttcaaagata accaggactc agatccttaa ggagcttaca gcgcagtagg 3601 gtggcagaag acataaacaa gttattataa tgtaacaaaa tatatgcaag acaaaaataa 3661 cttcaggaaa agaatcttag aacatgtgaa ttaccatctc tgtttgggga gggtaagaga 3721 gaatgggagg catggaaagg ggttggagtc cgagctaggg ggtgactagc atctttggaa 3781 tccccagctt tggtgggtaa ggttctgaca cccactttag gccccagtgt catcagacct 3841 ggtctctgct ggggctgctg caaatctctg aggttgggaa gggaaggtaa ccgcaagatg 3901 aagcgaacag gaatttgcta atacctacac atagcagatg atcagagctc tggagagaca 3961 ttctccatga cttcttggaa gttcaacaga taaagtgaaa ggttccataa attgtaatgt 4021 accagctaga tataaagtat tatccacttg cttgggattc atgcttagac attgggaaat 4081 cccttctcaa tttttgtctc taaacgaagt ctatcttcca attaagaaaa caaacccaag 4141 atatagacag aaaaataggt ctgtttcaat gcctagcatg ttccatttaa aatacagtaa 4201 atttgggctg aaagaactta tcacgcaatc tagggcaaac accatctcat gactttcctg 4261 cctaacctca atcctgagac caccaaaaac acaccatttc ctactgaaca ttgatatact 4321 cagaaactga aatctaaagc tggaaagggc cttaacgata atttaataac agtttgtttt 4381 acacatgaag aaccctgagg tatggaggag ttaagattaa aaaaagagaa actgccttgg 4441 cgcagttata tgggctttgc tagaagaggc tgcgtcggct tatttgatat cagctgtcat 4501 agctggagct tcatgaaatc tctaagagag agtacaatcc atttcctatg aagtctaaaa 4561 tgtaaaagga tattactaag gaatgctacc acgtaatttt ttaatcataa ttattatttc 4621 aaccagagtt ttgaaaagtg atttaccaac actgcgtatc attttgtttt tgctaagtac 4681 tatcaactgg agcaatctcg tgtagtattt attctcattt atctctaaac aactgggggt 4741 tttccaaaaa gactcaaaat gtcgaaatcc agcctctttc gggaaaacca caggtaaata 4801 aggaaagaca ccttcgcagg agttcccctc acacgcaccc acccctggcg cagggcccta 4861 cggaggcggt ggaaacgccc ctctgggagc ccagcactct ctcccaccgg cttgacgggt 4921 gatgctcggg ggctggaggc ggctctgcca ggctcccggg ctccgctacc accgcgtcgc 4981 cccccccggc ctgcagggct cgcgctctga ggtcaggccg aggacgcgga cagccgggga 5041 gccggggccg cgagacagaa gggccggcct gggagcgggt ggcgccggct ggggaccagg 5101 cgtgcccacg tgaccgcccc gcccgctgcc tgcggcccgc cgagccccgc cacctccctc 5161 gggctgcagc tcccggcgtg ccccgcactc tccgctgccc acccgctcgc ccgcccctcc 5221 ttctcctccc agtgccacag agccgaagcc cgagctgccg ccgcagccac agccgagggc 5281 actatggtaa gacgagcgcg ctggccggga ggccgcggcg aggcgagaaa agccccccgc 5341 acggccccgg gagtgaggcc gccattttaa cctgattttg gcctccaagg tgggcgcttc 5401 tgctctgcgg ctccgctgct ctccagccga ccggcctgcc ctccggccgt caggccctgc 5461 cctgctgctc tttggatttt ggggggcggg gagggcccgg gcgtcggcgc aggttggggg 5521 tcggggccgg gcgggcgggg gcgcgagagg gtctgcggac tgcagccgct cgcgccgcct 5581 ttgcccttcg cttcctaatt ttacttaaca cgcgaggctt taaaattggt acgtgctgcg 5641 aacgctgtgt gggtcagggt ctggacggcc tgtaataaaa cccttacggg gagattaagg 5701 aagagggaaa acacttttta aaatgctttc tcgccgtaaa agcttttaca ctcgatcagt 5761 tagttttgga gtgtctgcat gtgagctgtg tgtgggccgt gggcggtttg gagtttacac 5821 ttgattctct ttccttatga ggaaacgtca gtggctagga tgactttaaa gaaaaaaata 5881 gtagaagcat taactgaaat ccaaaagtgt ttttttaagg ccagccgagt tgacacaata 5941 cagaaggtat ttttgctgcc actcctgaag ctctgacatc acccagtgaa ataggaaaca 6001 tttcagggat gggacaactt gtatttgtcc ctttcgcttc cacgtccaaa cccctttaag 6061 aaggatgaat gggcaggatg agttagactc cttcgctgta tcgtctactg attcttaaaa 6121 tgtgacaaat ctgattggac gacttacatg gtacggtgca atttttgatg tccagactaa 6181 agtgagtctt ctctaggcaa acagtaattt tggttaaaac caaaatacgt gttctgaatt 6241 actgttctgt gtttattttc aggcttctgg agttacagtg aatgatgaag tcatcaaagt 6301 ttttaatgat atgaaagtaa ggaaatcttc tacacaagag gagatcaaaa agagaaagaa 6361 agcagttctc ttctgtttaa gcgatgacaa aagacaaata attgtagagg aagcaaagca 6421 gatcttggtg ggtgacattg gtgatactgt agaggacccc tacacatctt ttgtgaagtt 6481 gctacctctg aatgattgcc gatatgcttt gtacgatgcc acatacgaaa caaaagagtc 6541 taagaaagaa gacctagtat ttatattctg gtgtgtaaaa acaaaagaaa aaagtacttt 6601 taaaatgcaa ggattattat tatcatagtc agtcttacct ttgtttttct tataaatggg 6661 attcaataat tttttttttt tctgtagggc tcctgaaagt gcacctttaa aaagcaagat 6721 gatttatgct agctctaaag atgccattaa aaagaaattt acaggtacaa acttgaatat 6781 ttggggcaga gaaattattc tttattaatt ataataaagt aataggataa tgttttttct 6841 ttttaggtat taaacatgag tggcaagtaa atggcttgga tgatattaag gaccgttcga 6901 cacttggaga gaaattggga ggcaatgtag tagtttcact tgaaggaaaa ccattataaa 6961 atgacagtca agtgccatct ggatcttaag gagcttccat ttctccagct cagtccattg 7021 gaatagtatt aggttttggt tttttgttgt atttccccct ttccactggg cccttccaac 7081 acaatgaatg aaggaaatat catttattta agcagcctat cagtgattgc cattagactg 7141 ttgaatactg ttacttttat atagaaccca aggaatgcct tcctgtcata ttttagccaa 7201 aacaactggt tatatgcctc ccttgcagca agcactacaa tgtatgtgat cgtcaatgtg 7261 aatagcttag aatactgcaa aggataagct aattgaatgc cttgaaagta ttatccactg 7321 gtcagatggt caactttttt cagtattatt tatagttggc acttgattgc agttctgtga 7381 ggcttgagca ttcatacacc tcacctgcct tggcaagcct attttagtga tatggcagca 7441 cggatataac actatgcatt aaaagcactt tttgtaataa gtttaatatc ctaaaaggaa 7501 tgccaattaa gttttgttaa ctgtgtcatc aacttatcct agtacctcag tgttcattcc 7561 tgttacctgc atatcttctt aaaagaaata gctgttatta atgccttttt gttttccatt 7621 gagtgtacac tactgaataa gtgtaggagt tttatgttta ccatgtgagt cctgcaacac 7681 taaagatatt ttgaatatca gtcatgatgg caatttctgt ataaaagagc cttaaatgga 7741 acattgtttt gagatcaaac tccccaccct cacaaaaatg gccacgttgc aataaaaatt 7801 gtggcatatt acagaacgtt gccttgtttt ccttggaaat tttgcaaaat gttatgtgaa 7861 acaacttcta gggtaaaaac agctattact aatctctgca ctggtcattt gagaattttt 7921 tttgtacagc attcatgtgt gatattttcc agatttgttg gatctatttg gtttaaaaag 7981 tattctatct taaggccaac taatataaaa taccattgtt aaagaatggt acttttataa 8041 acattagtgt atttatttcc tatgtgttaa tatgaagatc agaaattatt ttttgcactt 8101 tggcataaat acttttcaat atctgatttg ttctctggat aaattagcat agttattttt 8161 ttattcacat ttacatttct aagtagttgt atagtagaag caggaagctc ttattgctta 8221 tttggtcgta atgaaaataa tttgtaaaat gtcctttaaa agtttaatga tacttctgat 8281 gtttcggaac agtcatttca cctactattt ctgaatatat tttgcaaatt gaattggaat 8341 aggaattgat aatagcagtc ttaaacatta gtagtgggat ttggctatgg tccagactgt 8401 gctccttata gagaatttga tctgctcagt gtgagcggtt tgctgttagc cagggctatt 8461 tatggcaaac acatgctttt gtatcttgtc atagttatcc acaaatggca aaactggact 8521 tgattctact ggtatgcaaa acaggcatgc tagtaagcag tcagtcgtgg ctcagaactt 8581 aaccccatag ctcagaggaa tgcttttagc agaaaacagg aaagaaaata tcccttaaaa 8641 attttttttg aatgtgtgga agtaatttta gtataattag attttttcca tatttttgaa 8701 agatttttca gatgtgaaca ttaaaaatag ggattaaatg tctaggcttc catttaaaat 8761 tatatgaatg gtttgggatc tttttgcact gagcaatttt atttcaggct tccagctgtc 8821 cctgtgagtt atcctggaca tttcgatggt ttttggtaag gccaaactct gataagcaaa 8881 acagagaata ctgacgtata cttaaccata tgtgtaactg atacttggca ccatggaatt 8941 tttcattgag ttatttcctc attcttttaa aaaataaggg actataaatc agttatgtag 9001 tatcttttgt ttttgtagct gattccttaa ctttcttgta tgcctctagt aatttcagag 9061 attaaatatt gctttaaact gtgatacttt gatttgctag attgacaaaa ctgatactaa 9121 tataattaag ttcatctttg aaatacatct ttgtgcgtag agccaaaaaa agagataaaa 9181 ttaataatag ttcacttgtt atttgagatt aatttggcat ttgaaatgat cattttattt 9241 tacaatcatt tataatgaat caatgttcca gttagcttta aaaggtatac ggtgctaatt 9301 agtaaaatat tgaaggcaat attttactgc tagcttgcaa agttatgaga gtttaaaaaa 9361 taaaatatat gaaaatatgt aaagctgttg agatgtgttt acttatactt cagaacatta 9421 aaagtttaaa aactggtatt tcagatcaaa gaggcatcat tatctttatt ctgtttttca 9481 ggattttagt tggtaatact ttctcattta tcaataacaa ttttctttaa aaactgagtg 9541 ttacagcaat taattttagc attttcagac aaatgggaac agttggcatg tgtcccaaac 9601 tggctatcag ctgttgtttt ccatcattat ctaaaatagt gtggccagca ttgtgtattg 9661 aaatgtgcct ttttcgtaca ttggaagaga agcctcttac tgggtttgag tttctctgat 9721 acagaacatt tgtagcagct aatttatgga atctggcaaa taagctttgg gaggaaattc 9781 ttttaaaagt gttttcttgt taaggaataa tctcaacaat ggtaaatcat caagaggttg 9841 agaagactct taggtttgcc actcagaaaa aacagtctca ttttgctctt cataggtcct 9901 gtttttgctt gcacatttaa tagtaggtgg agatgcaaaa caacgtgaat gttcattttt 9961 ttatgaatag tattaaagct actagaggtg ggcaggcagg tcccagtaaa tgttgccttt 10021 tttttttttt ttttttgaga cagggtctca ctctgttgcc caggctggag tgcagtgtca 10081 aaatttcagc tcacttcaaa ctcaaccttc ccagctcaga tgatcctccc acctcagcct 10141 cccaagtagc tgggactaca ggcatgcacc accatgccta attttttttt tttttttttt 10201 tgtatctctt ttgtagagac tgagtttggc catgttgcct aggctgatct ccaactcctg 10261 ggctcaagct gtcctctgac ctccgcctcc caaaagtgct aggattgcat gcatgagcca 10321 ccacttcaaa agctcaaata ctgcttttga agacagcatg agtttatgga tgttctgtct 10381 cctttcagcc cataaagaag tctgaggctt ttcttttgct ctggaacatc caactaattg 10441 ctttatttcc atgtagaagt agaggaatca tccctccact taaatttcct ctcataatgc 10501 aatttggcaa attaaatctc taaatctcag ttttttaacc catagtatgg gaacggtaat 10561 atctgtttac catgtttcct gagtactaaa tatggaaatg gtttttgaaa acaggaaaat 10621 gctatgtaaa tgcaataatc tgtttaaact attcattctt aattactgta tgtaagtaga 10681 taaatattaa atgtttttgt taaaagatgt attacagatc attgaacctc tatttttgta 10741 acttccgtgt gtgtacatat atatatgtat atatatatgt atatatacac acatacacac 10801 acattttttt cttctttttt ggacagggtt tcactctatt gcccaggctg ctgtgcagtg 10861 gcacaatcat agctcaatat aaccttgaac tcctgggctc aagtgatcct cccacctcaa 10921 gctcctgagc agctgggatt atagacatac accaccatgc ccagctaatt tttttttttt 10981 tttttttttt gagacaaagt ctcactgtat cacccacgct ggagggcggt ggtgtgatct 11041 cggctcactg caacctctgc ctcctgggtt caagcaattc tcctgcctca gcctcccgaa 11101 tagctgggac tacaggcata tgccaccaca cctggctaat ttttgtattt ttaatacaga 11161 tgggatttca ccatgttggc caggctggtc tcaaactcct gacctcaggt gatctgcctg 11221 cctcagcctc ccaaagtgct gggattacag gcatgagcca ccatgcccgg cctgcccagc 11281 taatttaaaa aaaaaaaaat tgttgagacg gggtctcact gtgttgtcta ggctagtctt 11341 gaattcctgg ccttaagcaa tccacccatc tcaacttccc aaagcactgg gattataggt 11401 gtgaaccact gggctgagcc tatttagtgt gtatatagag at //