LOCUS AF537214 4115 bp mRNA linear HUM 24-JUL-2003
DEFINITION Homo sapiens multiple coagulation factor deficiency protein 2
(MCFD2) mRNA, complete cds.
ACCESSION AF537214
VERSION AF537214.1
KEYWORDS .
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 4115)
AUTHORS Zhang,B., Cunningham,M.A., Nichols,W.C., Bernat,J.A., Seligsohn,U.,
Pipe,S.W., McVey,J.H., Schulte-Overberg,U., de Bosch,N.B.,
Ruiz-Saez,A., White,G.C., Tuddenham,E.G., Kaufman,R.J. and
Ginsburg,D.
TITLE Bleeding due to disruption of a cargo-specific ER-to-Golgi
transport complex
JOURNAL Nat. Genet. 34 (2), 220-225 (2003)
PUBMED 12717434
REFERENCE 2 (bases 1 to 4115)
AUTHORS Zhang,B. and Ginsburg,D.
TITLE Direct Submission
JOURNAL Submitted (09-AUG-2002) Medical Genetics, University of Michigan,
1150 W. Medical Center Dr., Ann Arbor, MI 48105, USA
FEATURES Location/Qualifiers
source 1..4115
/db_xref="H-InvDB:HIT000081441"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p21"
gene 1..4115
/gene="MCFD2"
misc_feature 13
/gene="MCFD2"
/note="alternate transcription start site"
misc_feature 17
/gene="MCFD2"
/note="alternate transcription start site"
CDS 90..530
/gene="MCFD2"
/note="EF-hand protein; deficiency causes combined
deficiency of factor V and factor VIII; nteracts with
LMAN1 (ERGIC-53)"
/codon_start=1
/product="multiple coagulation factor deficiency protein
2"
/protein_id="AAP23162.1"
/translation="MTMRSLLRTPFLCGLLWAFCAPGARAEEPAASFSQPGSMGLDKN
TVHDQEHIMEHLEGVINKPEAEMSPQELQLHYFKMHDYDGNNLLDGLELSTAITHVHK
EEGSEQAPLMSEDELINIIDGVLRDDDKNNDGYIDYAEFAKSLQ"
repeat_region 761..2995
/gene="MCFD2"
/rpt_family="THE1"
/rpt_type=dispersed
BASE COUNT 1162 a 912 c 900 g 1141 t
ORIGIN
1 gaagccgagg aagagcgttt tggggacggg ggctggtgag gctcacgttg gagggcttcg
61 cgtctgcttc ggagaccgta aggatattga tgaccatgag atccctgctc agaaccccct
121 tcctgtgtgg cctgctctgg gccttttgtg ccccaggcgc cagggctgag gagcctgcag
181 ccagcttctc ccaacccggc agcatgggcc tggataagaa cacagtgcac gaccaagagc
241 atatcatgga gcatctagaa ggtgtcatca acaaaccaga ggcggagatg tcgccacaag
301 aattgcagct ccattacttc aaaatgcatg attatgatgg caataatttg cttgatggct
361 tagaactctc cacagccatc actcatgtcc ataaggagga agggagtgaa caggcaccac
421 taatgagtga agatgaactg attaacataa tagatggtgt tttgagagat gatgacaaga
481 acaatgatgg atacattgac tatgctgaat ttgcaaaatc actgcagtag atgttatttg
541 gccatctcct ggttatatac aaatgtgacc cgtgataatg tgattgaaca ctttagtaat
601 gcaaaataac tcatttccaa ctactgctgc agcattttgg taaaaacctg tagcgattcg
661 ttacactggg gtgagaagag ataagagaaa tgaaagagaa gagaaatggg acatctaata
721 gtccctaagt gctattaaat accttattgg acaagggctt gcttcaagca tctgtattag
781 tctgtattaa tgctgctgat aaagacgtac ccgagactgg gaagaaaaag aggtttactt
841 ggacttacag ttccacatgg ctggggaggc ctcagaatca tggcgggagg tgaaaggcac
901 ttcttacatg gcagcaagag aaaatgagga agaagcaaaa gtggaaaccc ctgataagcc
961 atcagatctt gtgaaactta ttcactatca caagaatagc atgggaaaga ctggccccca
1021 tgattcaatt acctcccctt gggtctctcc cacaacacgt gggaattctg gtagatacaa
1081 tttcaagttg agatttgggt ggggacatag ccaaaccata tcattctacc cctggcccct
1141 ccaaatctca tgtcctcact attcaaaacc aatcatgcct tcctaacagt cccccaaagt
1201 cttaactctt ttcagcatta acgcaaaaat ccacagtcca aagtctcatc tgagacaagg
1261 caagtccctt ccacctatga gcctgtaaaa tcaaaagcaa gctagttact tcctagatac
1321 caacaggggt acaggtattg attaaagacg gctgttccaa atgggagaaa ttggccaaaa
1381 taaaggggtt acagggccca tgcaagtccg aaatccagca gggctgtcaa attttaaagt
1441 tccagaataa tctcctttga ctccaggtct cacatccagg tcatactgat gcaagaagtg
1501 ggttcccatg gtcttgggca gctctgcccc tgtggctttg tagggtacag cctccctcct
1561 ggctgctttc acggctgttg ttcagtgcct gcggcttttc caggtgcacg gtgcaagctg
1621 ttggtggatc taccattctg gggtctggag gacggtggcc ctcttctcac agctccacta
1681 ggcagtgccc cagtagggac tctgtgtggg ggctcccaca ccacatttcc cttctgcact
1741 gccctagcag aggttctctc ccctgccgct gagagggcct ctcccctgca gcaaacgttt
1801 gcctgggcat tgaggcattt ccatacatct tctgaaaact aggcggaggt ttccaaatct
1861 caattcttga cttctgtgca cctgcaggct taacagcaca tagaagctgc caaggcttgg
1921 ggcttccact ctgaagccac agcccgagct gtatgttggc ccctttcagc catggctgga
1981 gtggctggga cacaagacac caagtcccta ggctgcacac acatgtcagg ggctgccctg
2041 acatggcctg gagacatttt ccccatggtg ttggggatta acattaggct ccttgctact
2101 tatgcaaatt tctgcagctg gcttgaattt ctccccagaa aatgggtttt tcttttctat
2161 tgcatagtca ggctgcaaat ttccaaactt ttatgctttg cttcccttat ttataaggga
2221 atgcctttaa aagcacccaa gtcacctgtt gaacactttg ctgcttagaa atttcttccg
2281 ctagttaacc taaatcatct ctctcaagtt caaagttcca caaatcccta tggaaggggc
2341 aaaatgctgc cagtctcttt gctaaaacat aacaagagtc acctttactc cagttcccaa
2401 caagttcctc atcttcatct gaggccacct cagcctggac tttgttgtcc atattgctat
2461 cagcatttgg ggcaaagcca ttcaacaagt ctgtaggaag ttccaaactt tcccacattt
2521 tcctgttttc ttctgagccc tccaaactgt tccagcctct gcctgttacc cagttccaaa
2581 gtcacttcca cattttgggt atttcttcag caggtcccaa tctactggta ccaatttact
2641 gtattagtcc gttttcacgc tgctgataaa gacatacccg agactgggaa gaaaaagtgg
2701 tttaattgga cttaaagttc cacatggctg gggaggcctc agaatcatgg tgggaggcaa
2761 aagacacttc ttacattgtg gcaagaaaaa atgaggaaga agcaaaagca gaaacccctg
2821 ataaactgat cagatctcat gagacttatt cactgtcacg agaatagcac gggaaagact
2881 ggcccccatg attcaattac ctccccctgg gtctgtccca caacacgtgg gaattctggg
2941 agatacaatt caagttgaga tttgtggggg gacacaacca aaccatatca gcatcctttc
3001 aagaatatta gataattgga gctgagtact caggaacttg actgtagtag aatactgcta
3061 gtttcttaat tttaattcac atcacctgaa aagtaaaaca acaggctttg ccaagtggat
3121 gcttttcagt aacagtgaag tggagtgaat accaaatgtt tgccctggtg gttcctatct
3181 cttcaggcaa acatggtcag tattctgtaa agttcccctg gcctaaatga ttacttgctc
3241 tgggcaagtg gatatttatt aggctatttc aaagccacag cataagaatg tcagcctagc
3301 cacagagtct gagattctga gttcagccta gccacagagt ctaagattct gtatcctctg
3361 acattttgga aatgatacac tactggctta agtgatgact ctttcagatt ttcagtattt
3421 tatacaacta ctgccacatc cttatacttt attgcttttc tgtcttcttc aacctgggag
3481 agaccctgaa tttgagtgtg ttctctaatc aatagtggtt tagctttctt ttctatttca
3541 ctcgtttcta gggtttttta tttgcagttt aggaactatt aggaatgtca ggactttatc
3601 agcaggggta aaactaccac ctggcctagc ctaagtagga agtgaaaaga taattcacca
3661 aacaatgatt aatcagatag aagttctagt caagagggat attgttgaag ttacctcttt
3721 tagcctagat acatggattc ttttcaaatc aggaaagatt agaaaaggaa cccaaaaaac
3781 cctttaacag tgtgaatctt tatagtattt gaaaatgaga agaagcagca gattgtaatt
3841 tggtttattg gatgtgatgg acgttctgta atagaaaacc tgaaacgatg attgaatggg
3901 aaaaagagac tacaaaattt gtcgtaggat gtatacagac ttattttctt tattacagta
3961 ttataagaaa acatatgtat ttgtaaaaat ggtttcctgt gtcaagtatt tgtgcagtca
4021 gagctgactt gtaaactatt cttgtaatag ctcattattt tgaaagattt atatatgatg
4081 aattctggat atatgaccaa taaaactgat gaagc
//