2025-05-12 01:20:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_024600 1868 bp mRNA linear PRI 12-MAY-2013 DEFINITION Homo sapiens transmembrane protein 204 (TMEM204), transcript variant 1, mRNA. ACCESSION NM_024600 VERSION NM_024600.5 GI:374858055 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 1868) AUTHORS Kearsey,J., Petit,S., De Oliveira,C. and Schweighoffer,F. TITLE A novel four transmembrane spanning protein, CLP24. A hypoxically regulated cell junction protein JOURNAL Eur. J. Biochem. 271 (13), 2584-2592 (2004) PUBMED 15206924 REMARK GeneRIF: suggests that CLP24 is a novel, hypoxically regulated tetraspan adherens junction protein that modulates cell adhesion, paracellular permeability and angiogenesis REFERENCE 2 (bases 1 to 1868) AUTHORS Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J., Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B., Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E., Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S., Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C., Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V., Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K., Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z., Goddard,A., Wood,W.I., Godowski,P. and Gray,A. TITLE The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment JOURNAL Genome Res. 13 (10), 2265-2270 (2003) PUBMED 12975309 REMARK Erratum:[Genome Res. 2003 Dec;13(12):2759] REFERENCE 3 (bases 1 to 1868) AUTHORS Kutsenko,A.S., Gizatullin,R.Z., Al-Amin,A.N., Wang,F., Kvasha,S.M., Podowski,R.M., Matushkin,Y.G., Gyanchandani,A., Muravenko,O.V., Levitsky,V.G., Kolchanov,N.A., Protopopov,A.I., Kashuba,V.I., Kisselev,L.L., Wasserman,W., Wahlestedt,C. and Zabarovsky,E.R. TITLE NotI flanking sequences: a tool for gene discovery and verification of the human genome JOURNAL Nucleic Acids Res. 30 (14), 3163-3170 (2002) PUBMED 12136098 REFERENCE 4 (bases 1 to 1868) AUTHORS Daniels,R.J., Peden,J.F., Lloyd,C., Horsley,S.W., Clark,K., Tufarelli,C., Kearney,L., Buckle,V.J., Doggett,N.A., Flint,J. and Higgs,D.R. TITLE Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16 JOURNAL Hum. Mol. Genet. 10 (4), 339-352 (2001) PUBMED 11157797 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY676494.1, BC105785.1 and BQ182532.1. On Feb 8, 2012 this sequence version replaced gi:148747117. Summary: C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008]. Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein. ##Evidence-Data-START## Transcript exon combination :: AY676494.1, BC105785.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025083 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1316 AY676494.1 2-1317 1317-1845 BC105785.1 817-1345 1846-1868 BQ182532.1 1-23 c FEATURES Location/Qualifiers source 1..1868 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16p13.3" gene 1..1868 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /note="transmembrane protein 204" /db_xref="GeneID:79652" /db_xref="HGNC:14158" /db_xref="MIM:611002" exon 1..899 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /inference="alignment:Splign:1.39.8" variation 12 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:182142228" variation 158 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:144480011" variation 220 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:2745184" variation 255 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:368707958" variation 349..350 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="" /replace="g" /db_xref="dbSNP:34095211" variation 462 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:147777368" variation 466 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:368737142" variation 555..556 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="" /replace="c" /db_xref="dbSNP:35111466" variation 569 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:373405458" variation 589 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="c" /db_xref="dbSNP:376578766" variation 592 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:118073880" variation 593 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:372636447" misc_feature 596..598 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /note="upstream in-frame stop codon" variation 600 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:199838398" variation 609 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="c" /db_xref="dbSNP:200816535" variation 613 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:371045393" variation 618 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:374458197" variation 619 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="g" /replace="t" /db_xref="dbSNP:79799097" CDS 620..1300 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /note="claudin-like protein 24" /codon_start=1 /product="transmembrane protein 204 precursor" /protein_id="NP_078876.2" /db_xref="GI:112807182" /db_xref="CCDS:CCDS42098.1" /db_xref="GeneID:79652" /db_xref="HGNC:14158" /db_xref="MIM:611002" /translation="
MTVQRLVAAAVLVALVSLILNNVAAFTSNWVCQTLEDGRRRSVGLWRSCWLVDRTRGGPSPGARAGQVDAHDCEALGWGSEAAGFQESRGTVKLQFDMMRACNLVATAALTAGQLTFLLGLVGLPLLSPDAPCWEEAMAAAFQLASFVLVIGLVTFYRIGPYTNLSWSCYLNIGACLLATLAAAMLIWNILHKREDCMAPRVIVISRSLTARFRRGLDNDYVESPC
" sig_peptide 620..694 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /inference="COORDINATES: ab initio prediction:SignalP:4.0" misc_feature 635..697 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9BSN7.1); transmembrane region" misc_feature 929..991 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9BSN7.1); transmembrane region" misc_feature 1028..1090 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9BSN7.1); transmembrane region" misc_feature 1130..1192 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9BSN7.1); transmembrane region" variation 635 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:370718011" variation 637 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:79579867" variation 657 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="t" /db_xref="dbSNP:201425887" variation 690 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:370619004" variation 720 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:199525863" variation 723 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:374865562" variation 734 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:367572920" variation 745 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:372798914" variation 754 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:375773521" variation 775 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:372090617" variation 781 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="g" /db_xref="dbSNP:186729006" variation 785 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:199572244" variation 789 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="g" /db_xref="dbSNP:1057612" variation 805 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:372701754" variation 812 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:368847022" variation 820 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:191871869" variation 826 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:373990763" variation 827 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:377027054" variation 843 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:371456439" variation 859 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:369463643" variation 868 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:184155439" variation 891 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:377261314" variation 892 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:200683297" variation 899 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:148391234" exon 900..1055 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /inference="alignment:Splign:1.39.8" variation 907 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="g" /db_xref="dbSNP:369163612" variation 915 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:188607058" variation 919 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:192631061" variation 940 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:2076443" variation 943 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:370042666" variation 945 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:373793395" variation 998 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="g" /db_xref="dbSNP:377659497" variation 1006 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:150353439" variation 1007 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:184706289" variation 1009 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:374082360" variation 1014 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:201327024" variation 1018 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:377593023" variation 1036 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:370706274" variation 1053 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:373811188" exon 1056..1854 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /inference="alignment:Splign:1.39.8" variation 1071 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:372011293" variation 1078 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:374245889" variation 1088 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:146726791" variation 1118 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:368161601" variation 1131 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:374969149" variation 1135 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:140319816" variation 1158 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:369025963" variation 1159 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:372363605" variation 1188 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:377282223" variation 1251 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="g" /db_xref="dbSNP:199584846" variation 1262 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:377642514" variation 1282 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:199846445" variation 1316 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:369296906" variation 1317 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:12443936" variation 1323 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:200066351" variation 1324 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:9932984" variation 1326 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:12443939" variation 1436 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="c" /db_xref="dbSNP:9922661" variation 1453 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:144093021" variation 1464..1465 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="" /replace="a" /db_xref="dbSNP:34283558" variation 1489 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:113527598" variation 1490 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="a" /replace="g" /db_xref="dbSNP:371409351" variation 1507 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:114022362" variation 1544 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:79270517" variation 1617 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:143047330" variation 1810 /gene="TMEM204" /gene_synonym="C16orf30; CLP24" /replace="c" /replace="t" /db_xref="dbSNP:1057610" ORIGIN
aaaaacaaccatttcctctctgctgagagccagggaaggcgagctctgcgcacacgggcgtccctgcagcagccactctgctttccaggaccggccaactgccctggaggcatccacacaggggcccaggcagcacagaggagctgtgaacccgctccacaccggccaccctgcccggagcctggcactcacagcaggccggtgctaaggagtgtggcgcgggctcgactcccactgctgccggcctcccgagtgactctgttttccactgctgcaggcgagaagaggcacgcgcggcacaggccggcctccgcttcccgggaagacggcgcactcctggccctgggttcttgctgctgcccaccctctgctccctgggatgggccccgaggcgagcagcttcagcacaggcctggccctgctccaggtgcaggaaggaggataaggccgggccgagaggcggcacacctggaccatcccatgggcctccgcccgcgccgccccgaggatgagtggtgatgtcctctagccacccctagcagcgtcggctctccctggacgtgcggccgcggactgggacttggctttctccggataagcggcggcaccggcgtcagcgatgaccgtgcagagactcgtggccgcggccgtgctggtggccctggtctcactcatcctcaacaacgtggcggccttcacctccaactgggtgtgccagacgctggaggatgggcgcaggcgcagcgtggggctgtggaggtcctgctggctggtggacaggacccggggagggccgagccctggggccagagccggccaggtggacgcacatgactgtgaggcgctgggctggggctccgaggcagccggcttccaggagtcccgaggcaccgtcaaactgcagttcgacatgatgcgcgcctgcaacctggtggccacggccgcgctcaccgcaggccagctcaccttcctcctggggctggtgggcctgcccctgctgtcacccgacgccccgtgctgggaggaggccatggccgctgcattccaactggcgagttttgtcctggtcatcgggctcgtgactttctacagaattggcccatacaccaacctgtcctggtcctgctacctgaacattggcgcctgccttctggccacgctggcggcagccatgctcatctggaacattctccacaagagggaggactgcatggccccccgggtgattgtcatcagccgctccctgacagcgcgctttcgccgtgggctggacaatgactacgtggagtcaccatgctgagtcgcccttctcagcgctccatcaacgcacacctgctatcgtggaacagcctagaaaccaagggactccaccaccaagtcacttcccctgctcgtgcagaggcacgggatgagtctgggtgacctctgcgccatgcgtgcgagacacgtgtgcgtttactgttatgtcggtcatatgtctgtacgtgtcgtgggccaacctcgttctgcctccagctttcctggttagcgcaacgcggctccacgaccacacgcacttcagggtggaagctggaagctgagacacaggttaggtggcgcgaggctgccctgcgctccgctttgctttgggattaatttattctgcatctgctgagaggggcaccccagccatatcttacactttggtaaagcagaaaaccaggaaaattttcttaaaatatccacaatattccttgagtgagtcagaatctatagccggttagtgatggtttcagacagaatcgtgttcgtgtctgttttgctcgattcttttcctaagttaaataaatgcaagcctctgaactctgtctataaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:79652 -> Biological process: GO:0001945 [lymph vessel development] evidence: IEA GeneID:79652 -> Biological process: GO:0006950 [response to stress] evidence: IEA GeneID:79652 -> Biological process: GO:0030947 [regulation of vascular endothelial growth factor receptor signaling pathway] evidence: IEA GeneID:79652 -> Biological process: GO:0051145 [smooth muscle cell differentiation] evidence: IEA GeneID:79652 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA GeneID:79652 -> Cellular component: GO:0005912 [adherens junction] evidence: IEA GeneID:79652 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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