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2024-04-19 18:27:39, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001256541 1647 bp mRNA linear PRI 12-MAY-2013
DEFINITION Homo sapiens transmembrane protein 204 (TMEM204), transcript
variant 2, mRNA.
ACCESSION NM_001256541
VERSION NM_001256541.1 GI:374858056
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 1647)
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 1647)
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 1647)
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 1647)
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
BC004932.1, BC105785.1 and BQ182532.1.
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 (2) differs in the 5' UTR compared
to variant 1. Both variants encode the same protein.
##Evidence-Data-START##
Transcript exon combination :: BC004932.1 [ECO:0000332]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1102 BC004932.1 1-1102
1103-1624 BC105785.1 824-1345
1625-1647 BQ182532.1 1-23 c
FEATURES Location/Qualifiers
source 1..1647
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16p13.3"
gene 1..1647
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/note="transmembrane protein 204"
/db_xref="GeneID:79652"
/db_xref="HGNC:14158"
/db_xref="MIM:611002"
exon 1..56
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/inference="alignment:Splign:1.39.8"
exon 57..678
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/inference="alignment:Splign:1.39.8"
variation 128..129
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace=""
/replace="g"
/db_xref="dbSNP:34095211"
variation 241
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:147777368"
variation 245
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:368737142"
variation 334..335
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace=""
/replace="c"
/db_xref="dbSNP:35111466"
variation 348
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:373405458"
variation 368
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="c"
/db_xref="dbSNP:376578766"
variation 371
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:118073880"
variation 372
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:372636447"
misc_feature 375..377
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/note="upstream in-frame stop codon"
variation 379
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:199838398"
variation 388
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="c"
/db_xref="dbSNP:200816535"
variation 392
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:371045393"
variation 397
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:374458197"
variation 398
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="g"
/replace="t"
/db_xref="dbSNP:79799097"
CDS 399..1079
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/note="claudin-like protein 24"
/codon_start=1
/product="transmembrane protein 204 precursor"
/protein_id="NP_001243470.1"
/db_xref="GI:374858057"
/db_xref="CCDS:CCDS42098.1"
/db_xref="GeneID:79652"
/db_xref="HGNC:14158"
/db_xref="MIM:611002"
/translation="
MTVQRLVAAAVLVALVSLILNNVAAFTSNWVCQTLEDGRRRSVGLWRSCWLVDRTRGGPSPGARAGQVDAHDCEALGWGSEAAGFQESRGTVKLQFDMMRACNLVATAALTAGQLTFLLGLVGLPLLSPDAPCWEEAMAAAFQLASFVLVIGLVTFYRIGPYTNLSWSCYLNIGACLLATLAAAMLIWNILHKREDCMAPRVIVISRSLTARFRRGLDNDYVESPC
"
sig_peptide 399..473
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
misc_feature 414..476
/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 708..770
/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 807..869
/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 909..971
/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 414
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:370718011"
variation 416
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:79579867"
variation 436
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="t"
/db_xref="dbSNP:201425887"
variation 469
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:370619004"
variation 499
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:199525863"
variation 502
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:374865562"
variation 513
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:367572920"
variation 524
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:372798914"
variation 533
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:375773521"
variation 554
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:372090617"
variation 560
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="g"
/db_xref="dbSNP:186729006"
variation 564
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:199572244"
variation 568
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="g"
/db_xref="dbSNP:1057612"
variation 584
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:372701754"
variation 591
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:368847022"
variation 599
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:191871869"
variation 605
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:373990763"
variation 606
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:377027054"
variation 622
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:371456439"
variation 638
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:369463643"
variation 647
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:184155439"
variation 670
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:377261314"
variation 671
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:200683297"
variation 678
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:148391234"
exon 679..834
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/inference="alignment:Splign:1.39.8"
variation 686
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="g"
/db_xref="dbSNP:369163612"
variation 694
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:188607058"
variation 698
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:192631061"
variation 719
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:2076443"
variation 722
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:370042666"
variation 724
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:373793395"
variation 777
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="g"
/db_xref="dbSNP:377659497"
variation 785
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:150353439"
variation 786
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:184706289"
variation 788
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:374082360"
variation 793
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:201327024"
variation 797
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:377593023"
variation 815
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:370706274"
variation 832
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:373811188"
exon 835..1633
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/inference="alignment:Splign:1.39.8"
variation 850
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:372011293"
variation 857
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:374245889"
variation 867
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:146726791"
variation 897
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:368161601"
variation 910
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:374969149"
variation 914
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:140319816"
variation 937
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:369025963"
variation 938
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:372363605"
variation 967
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:377282223"
variation 1030
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="g"
/db_xref="dbSNP:199584846"
variation 1041
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:377642514"
variation 1061
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:199846445"
variation 1095
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:369296906"
variation 1096
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:12443936"
variation 1102
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:200066351"
variation 1103
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:9932984"
variation 1105
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:12443939"
variation 1215
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="c"
/db_xref="dbSNP:9922661"
variation 1232
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:144093021"
variation 1243..1244
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace=""
/replace="a"
/db_xref="dbSNP:34283558"
variation 1268
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:113527598"
variation 1269
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="a"
/replace="g"
/db_xref="dbSNP:371409351"
variation 1286
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:114022362"
variation 1323
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:79270517"
variation 1396
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:143047330"
variation 1589
/gene="TMEM204"
/gene_synonym="C16orf30; CLP24"
/replace="c"
/replace="t"
/db_xref="dbSNP:1057610"
ORIGIN
ccgctctgaggactggagggaccagccgcccacagagccccgagcccgtggtcccggcgagaagaggcacgcgcggcacaggccggcctccgcttcccgggaagacggcgcactcctggccctgggttcttgctgctgcccaccctctgctccctgggatgggccccgaggcgagcagcttcagcacaggcctggccctgctccaggtgcaggaaggaggataaggccgggccgagaggcggcacacctggaccatcccatgggcctccgcccgcgccgccccgaggatgagtggtgatgtcctctagccacccctagcagcgtcggctctccctggacgtgcggccgcggactgggacttggctttctccggataagcggcggcaccggcgtcagcgatgaccgtgcagagactcgtggccgcggccgtgctggtggccctggtctcactcatcctcaacaacgtggcggccttcacctccaactgggtgtgccagacgctggaggatgggcgcaggcgcagcgtggggctgtggaggtcctgctggctggtggacaggacccggggagggccgagccctggggccagagccggccaggtggacgcacatgactgtgaggcgctgggctggggctccgaggcagccggcttccaggagtcccgaggcaccgtcaaactgcagttcgacatgatgcgcgcctgcaacctggtggccacggccgcgctcaccgcaggccagctcaccttcctcctggggctggtgggcctgcccctgctgtcacccgacgccccgtgctgggaggaggccatggccgctgcattccaactggcgagttttgtcctggtcatcgggctcgtgactttctacagaattggcccatacaccaacctgtcctggtcctgctacctgaacattggcgcctgccttctggccacgctggcggcagccatgctcatctggaacattctccacaagagggaggactgcatggccccccgggtgattgtcatcagccgctccctgacagcgcgctttcgccgtgggctggacaatgactacgtggagtcaccatgctgagtcgcccttctcagcgctccatcaacgcacacctgctatcgtggaacagcctagaaaccaagggactccaccaccaagtcacttcccctgctcgtgcagaggcacgggatgagtctgggtgacctctgcgccatgcgtgcgagacacgtgtgcgtttactgttatgtcggtcatatgtctgtacgtgtcgtgggccaacctcgttctgcctccagctttcctggttagcgcaacgcggctccacgaccacacgcacttcagggtggaagctggaagctgagacacaggttaggtggcgcgaggctgccctgcgctccgctttgctttgggattaatttattctgcatctgctgagaggggcaccccagccatatcttacactttggtaaagcagaaaaccaggaaaattttcttaaaatatccacaatattccttgagtgagtcagaatctatagccggttagtgatggtttcagacagaatcgtgttcgtgtctgttttgctcgattcttttcctaagttaaataaatgcaagcctctgaactctgtctataaaaaaaaaaaaaaaa
//
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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