2024-04-27 09:53:09, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001172743 2426 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 1, mRNA. ACCESSION NM_001172743 VERSION NM_001172743.1 GI:290662162 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 2426) AUTHORS Brooks,S., Ebenezer,N., Poopalasundaram,S., Maher,E., Francis,P., Moore,A. and Hardcastle,A. TITLE Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS) JOURNAL Ophthalmic Genet. 25 (2), 121-131 (2004) PUBMED 15370543 REFERENCE 2 (bases 1 to 2426) AUTHORS Walpole,S.M., Ronce,N., Grayson,C., Dessay,B., Yates,J.R., Trump,D. and Toutain,A. TITLE Exclusion of RAI2 as the causative gene for Nance-Horan syndrome JOURNAL Hum. Genet. 104 (5), 410-411 (1999) PUBMED 10394933 REFERENCE 3 (bases 1 to 2426) AUTHORS Walpole,S.M., Hiriyana,K.T., Nicolaou,A., Bingham,E.L., Durham,J., Vaudin,M., Ross,M.T., Yates,J.R., Sieving,P.A. and Trump,D. TITLE Identification and characterization of the human homologue (RAI2) of a mouse retinoic acid-induced gene in Xp22 JOURNAL Genomics 55 (3), 275-283 (1999) PUBMED 10049581 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA648693.1, DC420191.1, BC027937.1, AK056214.1 and AI291859.1. Summary: Retinoic acid plays a critical role in development, cellular growth, and differentiation. The specific function of this retinoic acid-induced gene has not yet been determined but it may play a role in development. The chromosomal location of this gene designates it to be a candidate for diseases such as Nance-Horan syndrome, sensorineural deafness, non-specific X-linked mental retardation, oral-facial-digital syndrome, and Fried syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]. Transcript Variant: This variant (1) encodes the longer isoform. Variants 1, 2 and 3 encode the same isoform (1). ##Evidence-Data-START## Transcript exon combination :: DC420191.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025084, ERS025088 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-39 DA648693.1 1-39 40-600 DC420191.1 1-561 601-1484 BC027937.1 557-1440 1485-2421 AK056214.1 1381-2317 2422-2426 AI291859.1 1-5 c FEATURES Location/Qualifiers source 1..2426 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xp22" gene 1..2426 /gene="RAI2" /note="retinoic acid induced 2" /db_xref="GeneID:10742" /db_xref="HGNC:9835" /db_xref="MIM:300217" exon 1..240 /gene="RAI2" /inference="alignment:Splign:1.39.8" exon 241..437 /gene="RAI2" /inference="alignment:Splign:1.39.8" exon 438..2423 /gene="RAI2" /inference="alignment:Splign:1.39.8" misc_feature 456..458 /gene="RAI2" /note="upstream in-frame stop codon" CDS 462..2054 /gene="RAI2" /note="isoform 1 is encoded by transcript variant 1; retinoic acid-induced protein 2" /codon_start=1 /product="retinoic acid-induced protein 2 isoform 1" /protein_id="NP_001166214.1" /db_xref="GI:290662163" /db_xref="CCDS:CCDS14183.1" /db_xref="GeneID:10742" /db_xref="HGNC:9835" /db_xref="MIM:300217" /translation="
MDDLQSQNLSMDMTDSPPALANNRLENGMAQLITTEAWNINSTDLVKKALVTVPAPSILNPPAESQSGMALKVAATVLQPLCLGESPVVMPIHMQVEGSSAPELNPNGNATYVMTTQGPVQLPVVLEQHVFQHLNSPLVLPQEAPCSSSTIHNNLFQGAEDPEAQPQLLDLRIPSQPQEPTLPFEAVLQNLFPSQGTLGPPPCQPPPGYAPVPPQPFSSPLSPLVPPATLLVPYPVIVPLPVPVPIPIPIPVPQSSESKFSSSFPKPPSSFGLHPFKGTQTPLEKDELKPFDILQPKEYFQLSRHTVIKMGSENEALDLSMKSVPWLKAGEVSPPIFQEDAALDLSVAAHRKSEPPPETLYDSGASVDSSGHTVMEKLPSGMEISFAPATSHEAPAMMDSHISSSDAATEMLSQPNHPSGEVKAENNIEMVGESQAAKVIVSVEDAVPTIFCGKIKGLSGVSTKNFSFKREDSVLQGYDINSQGEESMGNAEPLRKPIKNRSIKLKKVNSQEIHMLPIKKQRLATFFPRK
" STS 1735..2424 /gene="RAI2" /standard_name="RAI2__5640" /db_xref="UniSTS:463847" variation 1945 /gene="RAI2" /replace="a" /replace="g" /db_xref="dbSNP:2213616" STS 2012..2201 /gene="RAI2" /standard_name="RH94025" /db_xref="UniSTS:90417" polyA_signal 2402..2407 /gene="RAI2" polyA_site 2423 /gene="RAI2" ORIGIN
cttggtgtatatagtaaaggccgggcgccgcacgcagacacacactcgccaggacacaggcgcacacacgctcacgcacaaccagcagcggcggcggcgacagcgactcggtgacagcggcgacggcggctcccaccgcggcgcacccccttcaggcggccggcggcgaggccagaccggagagttccagcacactcgaccaccccgcggcttcctggaggcggcggccgcgattgcgagcaggcttcccaggaagaatgaagcagtcaacttgcataaggcctgtcttgacttctctcctttgggggaagaggatcacattaagaagggtggcaggcttgcctggacacagaattccactaccaaacagacatcatttctgagaacttcagagtttatgatccaggtttcccagtgattaaattactccttggaaggccaagtggcatcagagctgagtgatggacgacctgcagtcccagaacctctccatggacatgactgactcccctcctgccttggctaataacagactggagaatggcatggctcagctgatcaccaccgaggcctggaacatcaactccactgacctggtaaagaaggccctggtgaccgtgccagccccatccattctgaacccccctgccgagtctcagagtggcatggctctgaaggtggcggccactgtgttgcagcccctgtgcctcggggagagcccagtggtgatgcccattcacatgcaggtggagggaagctccgcaccagagctcaatccgaatggcaatgccacctacgtcatgaccacccagggccccgtgcaactgcccgtggtgctggagcagcacgtctttcagcacctcaactcccctctggtcctgccgcaggaggccccatgctcctccagtaccatccacaacaacctcttccagggagcggaggaccccgaggcccagccccagctcctggacctgaggatccccagccagccgcaggagcccactttgccatttgaagctgtgctccagaatttgtttccctcccagggcactctcgggcccccaccctgtcagcctcctcctggctatgcccctgtgcccccacagccttttagctcccccttgtcccccctggtcccaccagccaccctcttggtgccgtatcctgtaatcgtccccttgcctgtgccagtccctattcccatccccatcccggtgcctcagagttctgaatccaagttcagctccagtttccccaagccaccatcttccttcggcctgcacccctttaaaggcacccagacccctctggaaaaagatgaactgaagccctttgacatcctccagcctaaggagtacttccagctcagccgccacacggtcattaagatgggaagtgagaacgaggccctggatctctccatgaagtcagtgccctggctcaaggctggtgaagtcagtcccccaatcttccaggaagatgcagccctagacctgtcagtggcagcccaccggaaatccgagcctccccctgagacactgtatgacagtggtgcatcagtggacagctcaggtcacacagtgatggagaaacttcccagtggcatggaaatttcttttgcccctgccacgtcccatgaggccccagccatgatggatagtcacatcagcagcagtgatgctgctaccgagatgctcagccagcccaaccaccccagcggcgaagtcaaggctgaaaataacattgagatggtgggcgagtcccaggcggccaaggtcattgtctctgtcgaagatgctgtgcctaccatattctgtggcaagatcaaaggcctctcaggggtgtccaccaaaaacttctccttcaaaagagaagactccgtgcttcagggctatgacatcaacagccaaggggaagagtccatgggaaatgcagagccccttaggaaacccatcaaaaaccggagcataaagttaaagaaagtgaactcccaggaaatacacatgctcccaatcaaaaaacaacggctggccaccttttttccaagaaagtaaataacggctttttaaaatttgtatgattataatatggggaaaggtgcattggttttataaaaaggcatttaaaacaaattatctttgttaattattttggggagtagttgggaaatggaaaggtgaattggctctagaggccctgtatgctagtatcattttcttttttaatttttgacttttcacaaatgagtaaataagagcaacctatttttcaagcagattgcacattttttgcagctttaatggaatattgggtgaattagaggggtaaaaaaagctattttcattgccacaaagtgctttgatgatgtaatacctaataaagggtaggatgaatatttcacaataaatgtttgtttgcactaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10742 -> Molecular function: GO:0003674 [molecular_function] evidence: ND GeneID:10742 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:10742 -> Biological process: GO:0009790 [embryo development] evidence: NAS GeneID:10742 -> Cellular component: GO:0005575 [cellular_component] evidence: ND
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