2025-05-09 19:51:23, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001080408 3197 bp mRNA linear PRI 16-JUN-2013 DEFINITION Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA. ACCESSION NM_001080408 XM_001132017 VERSION NM_001080408.2 GI:339895885 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 3197) AUTHORS Lauc,G., Huffman,J.E., Pucic,M., Zgaga,L., Adamczyk,B., Muzinic,A., Novokmet,M., Polasek,O., Gornik,O., Kristic,J., Keser,T., Vitart,V., Scheijen,B., Uh,H.W., Molokhia,M., Patrick,A.L., McKeigue,P., Kolcic,I., Lukic,I.K., Swann,O., van Leeuwen,F.N., Ruhaak,L.R., Houwing-Duistermaat,J.J., Slagboom,P.E., Beekman,M., de Craen,A.J., Deelder,A.M., Zeng,Q., Wang,W., Hastie,N.D., Gyllensten,U., Wilson,J.F., Wuhrer,M., Wright,A.F., Rudd,P.M., Hayward,C., Aulchenko,Y., Campbell,H. and Rudan,I. TITLE Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers JOURNAL PLoS Genet. 9 (1), E1003225 (2013) PUBMED 23382691 REFERENCE 2 (bases 1 to 3197) AUTHORS Cornelis,M.C., Monda,K.L., Yu,K., Paynter,N., Azzato,E.M., Bennett,S.N., Berndt,S.I., Boerwinkle,E., Chanock,S., Chatterjee,N., Couper,D., Curhan,G., Heiss,G., Hu,F.B., Hunter,D.J., Jacobs,K., Jensen,M.K., Kraft,P., Landi,M.T., Nettleton,J.A., Purdue,M.P., Rajaraman,P., Rimm,E.B., Rose,L.M., Rothman,N., Silverman,D., Stolzenberg-Solomon,R., Subar,A., Yeager,M., Chasman,D.I., van Dam,R.M. and Caporaso,N.E. TITLE Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption JOURNAL PLoS Genet. 7 (4), E1002033 (2011) PUBMED 21490707 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC006530.4, BC105721.1 and AK094068.1. On Jul 14, 2011 this sequence version replaced gi:122937214. Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1. ##Evidence-Data-START## Transcript exon combination :: AK094068.1, BC105721.1 [ECO:0000332] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1 AC006530.4 14236-14236 c 2-2082 BC105721.1 1-2081 2083-3197 AK094068.1 1744-2858 FEATURES Location/Qualifiers source 1..3197 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="14" /map="14q24.3" gene 1..3197 /gene="PROX2" /gene_synonym="PROX-2" /note="prospero homeobox 2" /db_xref="GeneID:283571" /db_xref="HGNC:26715" /db_xref="MIM:615094" CDS 1..1098 /gene="PROX2" /gene_synonym="PROX-2" /note="isoform 2 is encoded by transcript variant 2; homeobox prospero-like protein PROX2" /codon_start=1 /product="prospero homeobox protein 2 isoform 2" /protein_id="NP_001073877.2" /db_xref="GI:339895886" /db_xref="CCDS:CCDS45136.2" /db_xref="GeneID:283571" /db_xref="HGNC:26715" /db_xref="MIM:615094" /translation="
MDPNSILLSPQPQICSHLAEACTEGERSSSPPELDRDSPFPWSQVPSSSPTDPEWFGDEHIQAKRARVETIVRGMCLSPNPLVPGNAQAGVSPRCPKKARERKRKQNLPTPQGLLMPAPAWDQGNRKGGPRVREQLHLLKQQLRHLQEHILQAAKPRDTAQGPGGCGTGKGPLSAKQGNGCGPRPWVVDGDHQQGTSKDLSGAEKHQESEKPSFLPSGAPASLEILRKELTRAVSQAVDSVLQKFNRCITSQMIKWFSNFREFYYIQMEKSARQAISDGVTNPKMLVVLRNSELFQALNMHYNKGNDFEVPDCFLEIASLTLQEFFRAVSAGRDSDPSWKKPIYKIISKLDSDIPEIFKSSSYPQ
" misc_feature 7..>336 /gene="PROX2" /gene_synonym="PROX-2" /note="Homeobox prospero-like protein (PROX1); Region: Prox1; pfam05044" /db_xref="CDD:203159" misc_feature <730..1080 /gene="PROX2" /gene_synonym="PROX-2" /note="Homeobox prospero-like protein (PROX1); Region: Prox1; pfam05044" /db_xref="CDD:203159" exon 1..732 /gene="PROX2" /gene_synonym="PROX-2" /inference="alignment:Splign:1.39.8" variation complement(24) /gene="PROX2" /gene_synonym="PROX-2" /replace="g" /replace="t" /db_xref="dbSNP:199595015" variation complement(40) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="t" /db_xref="dbSNP:376608651" variation complement(41) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:372079820" variation complement(42) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="g" /db_xref="dbSNP:371967421" variation complement(55) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="g" /db_xref="dbSNP:146941408" variation complement(68) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:368123183" variation complement(69) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:375166231" variation complement(76) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:201978225" variation complement(103) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:180960227" variation complement(105) /gene="PROX2" /gene_synonym="PROX-2" /replace="g" /replace="t" /db_xref="dbSNP:374677617" variation complement(116) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:371637936" variation complement(155) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="c" /db_xref="dbSNP:200595982" variation complement(175) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:376935828" variation complement(198) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:373721677" variation complement(212) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:370728105" variation complement(218) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:201405244" variation complement(224) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:199570102" variation complement(232) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:117853159" variation complement(236) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:200363606" variation complement(276) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:374756212" variation complement(279) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:189269863" variation complement(282) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:184323713" variation complement(333) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:61747287" variation complement(380) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:115990005" variation complement(381) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:61740783" variation complement(391) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:372540137" variation complement(434) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="c" /db_xref="dbSNP:368426600" variation complement(448) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:377003419" variation complement(504) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:372063691" variation complement(551) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:201963977" variation complement(563) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="t" /db_xref="dbSNP:367974406" variation complement(565) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:79080832" variation complement(567) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:374997285" variation complement(594) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:200480191" variation complement(632) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="c" /db_xref="dbSNP:368908499" variation complement(647) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:192730740" variation complement(669) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:201004945" variation complement(682) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:201578215" variation complement(686) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:376245999" variation complement(707) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="t" /db_xref="dbSNP:372997844" variation complement(720) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:61742639" exon 733..927 /gene="PROX2" /gene_synonym="PROX-2" /inference="alignment:Splign:1.39.8" variation complement(733) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:200953943" variation complement(739) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:368408282" variation complement(756) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="g" /db_xref="dbSNP:375032981" variation complement(782) /gene="PROX2" /gene_synonym="PROX-2" /replace="g" /replace="t" /db_xref="dbSNP:201972276" variation complement(794) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:370636794" variation complement(797) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="t" /db_xref="dbSNP:377158531" variation complement(802) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:182446913" variation complement(813) /gene="PROX2" /gene_synonym="PROX-2" /replace="g" /replace="t" /db_xref="dbSNP:370216245" variation complement(817) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:377349470" variation complement(833) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:374516263" variation complement(834) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:371134396" exon 928..3197 /gene="PROX2" /gene_synonym="PROX-2" /inference="alignment:Splign:1.39.8" variation complement(944) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:376745303" variation complement(991) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:368768225" variation complement(1053) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="c" /db_xref="dbSNP:143490627" variation complement(1090) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="c" /db_xref="dbSNP:200874751" variation complement(1121) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:200145421" variation complement(1131) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="t" /db_xref="dbSNP:141359648" variation complement(1219) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:61978928" variation complement(1225) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:146599159" variation complement(1320) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:188512911" variation complement(1331) /gene="PROX2" /gene_synonym="PROX-2" /replace="" /replace="a" /db_xref="dbSNP:34893831" variation complement(1370) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:114899270" variation complement(1525) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:17102763" variation complement(1636..1638) /gene="PROX2" /gene_synonym="PROX-2" /replace="" /replace="cat" /db_xref="dbSNP:368532127" variation complement(1671) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="g" /db_xref="dbSNP:12882109" variation complement(1704) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="c" /db_xref="dbSNP:370329203" variation complement(1722) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:145897808" variation complement(1768) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="c" /db_xref="dbSNP:140695864" variation complement(1769) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:377010267" variation complement(1886) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="g" /db_xref="dbSNP:145861708" variation complement(2013) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:56216877" variation complement(2027) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:370161030" variation complement(2033) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:139680482" variation complement(2144) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:375456732" variation complement(2159..2161) /gene="PROX2" /gene_synonym="PROX-2" /replace="" /replace="agg" /db_xref="dbSNP:201880589" variation complement(2186) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:184546582" variation complement(2474) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:66591704" variation complement(2492) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="g" /db_xref="dbSNP:10220695" variation complement(2579) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:374943417" variation complement(2627) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:193144203" variation complement(2638) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="c" /db_xref="dbSNP:190537693" variation complement(2650) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:185614009" variation complement(2747) /gene="PROX2" /gene_synonym="PROX-2" /replace="g" /replace="t" /db_xref="dbSNP:192425701" variation complement(2816) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="c" /db_xref="dbSNP:151072003" variation complement(2890) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:714788" variation complement(2966) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="c" /db_xref="dbSNP:111575499" variation complement(3023) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="t" /db_xref="dbSNP:116935234" variation complement(3110) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:186721912" variation complement(3111) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="t" /db_xref="dbSNP:182077825" variation complement(3119) /gene="PROX2" /gene_synonym="PROX-2" /replace="c" /replace="t" /db_xref="dbSNP:76861947" variation complement(3187) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="t" /db_xref="dbSNP:191699750" variation complement(3190) /gene="PROX2" /gene_synonym="PROX-2" /replace="a" /replace="g" /db_xref="dbSNP:145414176" ORIGIN
atggatccaaactccatcttgctttctcctcagccccagatctgctcccacctagcagaagcttgtacggaaggcgagagaagctcatcccctccagagctggatagagactccccgtttccctggagtcaggtccccagctccagccctacagaccccgaatggtttggtgatgagcacatccaggcaaagagggccagagtggagaccattgtccgaggcatgtgtctctccccgaatcctctggtgccaggcaatgcgcaagctggggtcagcccacgctgcccaaagaaggcccgagagaggaagaggaagcagaaccttcccacaccgcaaggcctcctgatgccagcccctgcctgggaccagggcaacaggaaggggggccctcgtgtgagagaacaacttcatctgctgaagcaacagctaagacatctgcaagagcacatcctacaggctgccaagcccagggacacagctcaggggccaggaggctgtggcacggggaaaggccctctgagtgcaaagcaggggaatggctgtgggcctcgcccctgggttgtggacggtgaccaccagcaaggtaccagcaaggacctctctggggcagaaaaacaccaagagtctgagaagcccagtttccttccttctggagcaccagcttcactagagattctgaggaaagagctgaccagggcagtgtcccaggctgtggactcggtattacaaaagttcaaccgctgcattacctcccagatgatcaagtggttcagcaactttcgtgagttttattacatccaaatggaaaaatctgcccggcaagcaatttcagatggtgtcacaaatcccaaaatgctggtggttctccgcaattcagaactttttcaagctctcaatatgcactacaacaagggaaatgactttgaggttccagattgcttcttggaaattgccagcttgacgttacaggagttcttcagggctgtctccgcagggagagactcagatccttcctggaagaaacccatttataaaattatttcgaaactggacagtgacatcccagagatattcaaatcttccagctatccccagtagctgtttcggggttaagatcccacaacgtgaggagtgactggctagggtttcctgggtttgtcttaaagggcaatttagctgtagtcatataaaaagggcacaaggaaatctcctctatcaaaacaggtactattaccattttgatcatttatttccctttccagaatcatcagaaatttaactataaaatgtactaactatattggtgtattggtagtatattgtaaaaggaacacaagtttccaatcagaagacttgaagctcaactccattgtttccaggtgttgtgaccctgggaacttcctggtatctctgtatctgtaaaatgaggttgttaaggattaaaggacagtatgtcctatgcaatgtcattcacacacaaatgtcagttttttgagcccctctttcagataaggttatcttatttggggtttttacaaattgctgtttttagtcacctaattataaagcgccatctatttgctagatactttcacatactttaagcttttcaccctgaaaagtagttattatcatcatttaaaagatgaccaaacagaagctttagaactgcaaggtaactcgccaaagcctatgaggctaggacatctgggttgatagggacagtcaggagcctggaggaaccaagactttctgatgcccaactgcatgctggacccatctcctgcagctaactcaggatctcaagcaggaccccacccctagtaagcatccagcgctgacagggcaccgtcacctgacaactcctgcccagcacttaggagcacttcaccgcccaagatttctgctgatcatttcagcaaactcaagacaaactttatgcaggacttgagtgttgctgtttattcacatttgtctgctggaagagtttatcagctggataatgcaaatagtctccagctgaccattgcaattggtgccccaacctcatatatgcagaagaagctgaacttcagactgtgaaaggtagaaagggccttaggagatcatctggcccatgctgcttaaattgggaaggaagaaccgcagtccagacaggaggcttgcacaggctgtgcacagccttgcagatgataaatggcataactgggacaaatgcagcatcacacagaaatggaaattctcccactccataacaaaattacagtccatggctgaccttccactgatgaaggaattcatgaaatcaacatttccccctgctgctggcccagcacaattgtgacccactcttgagtatataggcaaggcatgtacaaagctgagtaactgcatctgtcttctaagctagtcaggatcaagtctttgtaagcactgccaaaggtacgccgggtggggtggggtgggggtaatacacagctcgggctttgtagtcctgataaggggtgtctgtgagttcattagcttctttcctgtctatataaaacaagtttcatattcggctactcaacttccataatttttctggtggggtgttgctggagcagatgagataaaatccctaaactattactagaactatcagcataaaaagtatgaaagatgaattttcctttgaattttctcttcaaacagctgaaaggaaaaacaaaacagacttagcccaaacccatctttacaggctaaaggttaagtgccctccagtacatccaattgcactcagaagatctttgccctattttcacaaaaatgaaggaatctgccaaacctaagttttaaacacaggcaagcatggagtgctctgagcaagggcaatcagttttctgtgtccggacatagtagaagaaccctctatccagagtgacattacatacctaagttagacatacaggggaaacaagttcacatgactgtccaatagagagcagcccttcttctgtcccaaacctgaaattcattagtgtgtgtttaaagactgagccaagtcacctccagggcagtgaaccttgtctcagggaccaatgagatgaaatgtacaagctcaaattgaaaacatttgtgtactgcagtctttccaggaagtgttctctaaccactgagctaaacacagaagaatgtataaatatgtatgctctgcc
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:283571 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA GeneID:283571 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:283571 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IEA GeneID:283571 -> Biological process: GO:0007275 [multicellular organismal development] evidence: IEA GeneID:283571 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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