LOCUS NM_152291 2467 bp mRNA linear PRI 02-OCT-2011 DEFINITION Homo sapiens mucin 7, secreted (MUC7), transcript variant 3, mRNA. ACCESSION NM_152291 VERSION NM_152291.2 GI:222418644 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 2467) AUTHORS Heath,A.C., Whitfield,J.B., Martin,N.G., Pergadia,M.L., Goate,A.M., Lind,P.A., McEvoy,B.P., Schrage,A.J., Grant,J.D., Chou,Y.L., Zhu,R., Henders,A.K., Medland,S.E., Gordon,S.D., Nelson,E.C., Agrawal,A., Nyholt,D.R., Bucholz,K.K., Madden,P.A. and Montgomery,G.W. TITLE A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications JOURNAL Biol. Psychiatry 70 (6), 513-518 (2011) PUBMED 21529783 REFERENCE 2 (bases 1 to 2467) AUTHORS Carrara,S., Cangi,M.G., Arcidiacono,P.G., Perri,F., Petrone,M.C., Mezzi,G., Boemo,C., Talarico,A., Cin,E.D., Grassini,G., Doglioni,C. and Testoni,P.A. TITLE Mucin expression pattern in pancreatic diseases: findings from EUS-guided fine-needle aspiration biopsies JOURNAL Am. J. Gastroenterol. 106 (7), 1359-1363 (2011) PUBMED 21647207 REMARK GeneRIF: MUC7 expression in ductal adenocarcinoma (DAC) and chronic pancreatitis was not statistically significant, but MUC7 could be considered as potential marker of malignant lesions, especially in pancreatic DAC, as it was positive in 73% of these cases. REFERENCE 3 (bases 1 to 2467) 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 2467) AUTHORS Schuurhof,A., Bont,L., Siezen,C.L., Hodemaekers,H., van Houwelingen,H.C., Kimman,T.G., Hoebee,B., Kimpen,J.L. and Janssen,R. TITLE Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls JOURNAL Pediatr. Pulmonol. 45 (6), 608-613 (2010) PUBMED 20503287 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 2467) AUTHORS Habte,H.H., de Beer,C., Lotz,Z.E., Roux,P. and Mall,A.S. TITLE Anti-HIV-1 activity of salivary MUC5B and MUC7 mucins from HIV patients with different CD4 counts JOURNAL Virol. J. 7, 269 (2010) PUBMED 20946627 REMARK GeneRIF: MUC5B and MUC7 from HIV patients, unlike the MUC5B and MUC7 from HIV negative individuals, did not inhibit HIV-1 activity. Publication Status: Online-Only REFERENCE 6 (bases 1 to 2467) AUTHORS Kirkbride,H.J., Bolscher,J.G., Nazmi,K., Vinall,L.E., Nash,M.W., Moss,F.M., Mitchell,D.M. and Swallow,D.M. TITLE Genetic polymorphism of MUC7: allele frequencies and association with asthma JOURNAL Eur. J. Hum. Genet. 9 (5), 347-354 (2001) PUBMED 11378823 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 7 (bases 1 to 2467) AUTHORS Prakobphol,A., Thomsson,K.A., Hansson,G.C., Rosen,S.D., Singer,M.S., Phillips,N.J., Medzihradszky,K.F., Burlingame,A.L., Leffler,H. and Fisher,S.J. TITLE Human low-molecular-weight salivary mucin expresses the sialyl lewisx determinant and has L-selectin ligand activity JOURNAL Biochemistry 37 (14), 4916-4927 (1998) PUBMED 9538010 REFERENCE 8 (bases 1 to 2467) AUTHORS Troxler,R.F., Iontcheva,I., Oppenheim,F.G., Nunes,D.P. and Offner,G.D. TITLE Molecular characterization of a major high molecular weight mucin from human sublingual gland JOURNAL Glycobiology 7 (7), 965-973 (1997) PUBMED 9363439 REFERENCE 9 (bases 1 to 2467) AUTHORS Bobek,L.A., Liu,J., Sait,S.N., Shows,T.B., Bobek,Y.A. and Levine,M.J. TITLE Structure and chromosomal localization of the human salivary mucin gene, MUC7 JOURNAL Genomics 31 (3), 277-282 (1996) PUBMED 8838308 REFERENCE 10 (bases 1 to 2467) AUTHORS Bobek,L.A., Tsai,H., Biesbrock,A.R. and Levine,M.J. TITLE Molecular cloning, sequence, and specificity of expression of the gene encoding the low molecular weight human salivary mucin (MUC7) JOURNAL J. Biol. Chem. 268 (27), 20563-20569 (1993) PUBMED 7690757 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB206328.1, L13283.1 and BC025688.1. On Feb 3, 2009 this sequence version replaced gi:22748664. Summary: This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene.[provided by RefSeq, Feb 2009]. Transcript Variant: This variant (3) represents the shortest transcript and has a different 5' UTR compared to transcript variant 1. Transcript variants 1, 2 and 3 encode the same protein. 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. COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-566 DB206328.1 1-566 567-1656 L13283.1 473-1562 1657-2467 BC025688.1 1555-2365 FEATURES Location/Qualifiers source 1..2467 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="4" /map="4q13.3" gene 1..2467 /gene="MUC7" /gene_synonym="MG2" /note="mucin 7, secreted" /db_xref="GeneID:4589" /db_xref="HGNC:7518" /db_xref="HPRD:11759" /db_xref="MIM:158375" exon 1..175 /gene="MUC7" /gene_synonym="MG2" /inference="alignment:Splign" /number=3a misc_feature 149..151 /gene="MUC7" /gene_synonym="MG2" /note="upstream in-frame stop codon" exon 176..244 /gene="MUC7" /gene_synonym="MG2" /inference="alignment:Splign" /number=4 CDS 191..1324 /gene="MUC7" /gene_synonym="MG2" /note="mucin 7, salivary; mucin-7; MUC-7; apo-MG2; salivary mucin-7" /codon_start=1 /product="mucin-7 precursor" /protein_id="NP_689504.2" /db_xref="GI:222418645" /db_xref="CCDS:CCDS3541.1" /db_xref="GeneID:4589" /db_xref="HGNC:7518" /db_xref="HPRD:11759" /db_xref="MIM:158375" /translation="MKTLPLFVCICALSACFSFSEGRERDHELRHRRHHHQSPKSHFE LPHYPGLLAHQKPFIRKSYKCLHKRCRPKLPPSPNNPPKFPNPHQPPKHPDKNSSVVN PTLVATTQIPSVTFPSASTKITTLPNVTFLPQNATTISSRENVNTSSSVATLAPVNSP APQDTTAAPPTPSATTPAPPSSSAPPETTAAPPTPSATTQAPPSSSAPPETTAAPPTP PATTPAPPSSSAPPETTAAPPTPSATTPAPLSSSAPPETTAVPPTPSATTLDPSSASA PPETTAAPPTPSATTPAPPSSPAPQETTAAPITTPNSSPTTLAPDTSETSAAPTHQTT TSVTTQTTTTKQPTSAPGQNKISRFLLYMKNLLNRIIDDMVEQ" sig_peptide 191..256 /gene="MUC7" /gene_synonym="MG2" mat_peptide 257..1321 /gene="MUC7" /gene_synonym="MG2" /product="mucin-7" misc_feature 683..751 /gene="MUC7" /gene_synonym="MG2" /experiment="experimental evidence, no additional details recorded" /note="1; propagated from UniProtKB/Swiss-Prot (Q8TAX7.2); Region: Repetitive region" misc_feature 752..820 /gene="MUC7" /gene_synonym="MG2" /experiment="experimental evidence, no additional details recorded" /note="2; propagated from UniProtKB/Swiss-Prot (Q8TAX7.2); Region: Repetitive region" misc_feature 821..889 /gene="MUC7" /gene_synonym="MG2" /experiment="experimental evidence, no additional details recorded" /note="3; propagated from UniProtKB/Swiss-Prot (Q8TAX7.2); Region: Repetitive region" misc_feature 890..958 /gene="MUC7" /gene_synonym="MG2" /experiment="experimental evidence, no additional details recorded" /note="4; propagated from UniProtKB/Swiss-Prot (Q8TAX7.2); Region: Repetitive region" misc_feature 959..1027 /gene="MUC7" /gene_synonym="MG2" /experiment="experimental evidence, no additional details recorded" /note="5; propagated from UniProtKB/Swiss-Prot (Q8TAX7.2); Region: Repetitive region" misc_feature 1028..1096 /gene="MUC7" /gene_synonym="MG2" /experiment="experimental evidence, no additional details recorded" /note="6; propagated from UniProtKB/Swiss-Prot (Q8TAX7.2); Region: Repetitive region" exon 245..2443 /gene="MUC7" /gene_synonym="MG2" /inference="alignment:Splign" /number=5 polyA_signal 2419..2424 /gene="MUC7" /gene_synonym="MG2" polyA_site 2443 /gene="MUC7" /gene_synonym="MG2" ORIGIN 1 ttatcttaaa tctaatagat ttcctatttc caaaaagctc gactggagtg ttataaaacc 61 tgaaaattct cttgtgcttt ctcttctttt gcttctagtt accatcctca aaggattggc 121 taaaagcaag caactggatt gaacacccta agaagaaaga ttcacactgc accaggagac 181 atcagaaaga atgaaaactc tgccgctgtt tgtgtgcatc tgtgcactga gtgcttgctt 241 ctcgttcagt gaaggtcgag aaagggatca tgaactacgt cacagaaggc atcatcacca 301 atcacccaaa tctcactttg aattaccaca ttatcctgga ctgctagctc accagaagcc 361 gttcattaga aagtcctata aatgtctgca caaacgctgt aggcctaagc ttccaccttc 421 acctaataac ccccccaaat tcccaaatcc tcaccagcca cctaaacatc cagataaaaa 481 tagcagtgtg gtcaacccta ccttagtggc tacaacccaa attccatctg tgactttccc 541 atcagcttcc accaaaatta ctacccttcc aaatgtgact tttcttcccc agaatgccac 601 caccatatct tcaagagaaa atgttaacac aagctcttct gtagctacat tagcaccagt 661 gaattcccca gctccacaag acaccacagc tgccccaccc acaccttctg caactacacc 721 agctccacca tcttcctcag ctccaccaga gaccacagct gccccaccca caccttctgc 781 aactacacaa gctccaccat cttcctcagc tccaccagag accacagctg ccccacccac 841 acctcctgca actacaccag ctccaccatc ttcctcagct ccaccagaga ccacagctgc 901 cccacccaca ccttctgcaa ctacaccagc tccactatct tcctcagctc caccagagac 961 cacagctgtc ccacccacac cttctgcaac taccctagac ccatcatccg cctcagctcc 1021 accagagacc acagctgccc cacccacacc ttctgcaact acaccagctc caccgtcttc 1081 cccagctcca caagagacca cagctgcccc aattaccaca cctaattctt ccccaactac 1141 tcttgcacct gacacttctg aaacttcagc tgcacccaca caccagacta ctacttcggt 1201 cactactcaa actactacta ctaaacaacc aacttcagct cctggccaaa ataaaatttc 1261 tcgatttctt ttatatatga agaatctact aaacagaatt attgacgaca tggtggagca 1321 atagtatatt gtatgttgta aagtgttctg tcatttacaa gatgtgattc atgagtgcag 1381 aactaccacc tttcttttag caccaatccc aacatgaaat tatattactc agatttaaag 1441 cactatcatt aatctttcaa tctaattatt caccaccaca agacctatta acaagacaaa 1501 atgcctctat cccacaagcc agatgcaggt ctggggttca aaataactct ttggatccta 1561 cagagatagc ctactgaggg caaagaaagt ccttagataa agagagaata ttgtatgggc 1621 catcaaccat ttacttttcc ctgaatgtta gaaactacaa aaccactacc ttgtaccccc 1681 atcaaaatcc cacctgaacc atctaatcct ataaacataa aggggtaaaa ttggaactct 1741 ccagatgaac aaagacatct aaatatctgt agatagaaac atttatctat ctaaatatat 1801 tgatagacct gtcattgtat tgattaatga caaaaccctt tagataatta tcttccattt 1861 taaataaaat tttatttcac aaatatgagc caagaaagag gaaagttgat ttgaagtgag 1921 gattagaagt gaatgacaat aaagtctggc agccaagcac gaaccaagac tggcactatt 1981 tttcttagtg tatataattg tttaaactgc aaggttgaca tttattgtgt tgtgtctaag 2041 ttaatttcga tctaatgtac ctgattctag cctctgtgaa caacaagaat atgtttgtgt 2101 atgttcacat ggtgcttata atatttcact atcaattcaa ttaattcaca taaattccat 2161 gtgaaatgta ttcaacaatg gaatattttc taaaacattt agtatacatt tgaatgtatt 2221 ttaaaccatg ccaaactact gctttaatgt caagtttgca gaattgtctc tgaaaataaa 2281 aaccctgact ttagttgtaa aacaataaaa gttagctact tggtatacgg agatgttaat 2341 ttgggatatg gaggcatttt tatcttctgt cactactact taaaactctg atgattatgt 2401 tagatttttt tgctaactaa taaagatttc aaatggcaat ttaaaaaaaa aaaaaaaaaa 2461 aaaaaaa //