GGRNA Home | Help | Advanced search

2019-03-23 04:14:46, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001127385            1492 bp    mRNA    linear   PRI 09-JUN-2013
DEFINITION  Homo sapiens cortexin 3 (CTXN3), transcript variant 2, mRNA.
ACCESSION   NM_001127385
VERSION     NM_001127385.1  GI:188497721
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 1492)
  AUTHORS   Panichareon,B., Nakayama,K., Iwamoto,S., Thurakitwannakarn,W. and
            Sukhumsirichart,W.
  TITLE     Association of CTXN3-SLC12A2 polymorphisms and schizophrenia in a
            Thai population
  JOURNAL   Behav Brain Funct 8, 27 (2012)
   PUBMED   22643131
  REMARK    GeneRIF: Two single nucleotide polymophisms of the CTXN3 and
            SLC12A2 genes are associated with risk of schizophrenia in a Thai
            population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1492)
  AUTHORS   Potkin,S.G., Turner,J.A., Guffanti,G., Lakatos,A., Fallon,J.H.,
            Nguyen,D.D., Mathalon,D., Ford,J., Lauriello,J. and Macciardi,F.
  CONSRTM   FBIRN
  TITLE     A genome-wide association study of schizophrenia using brain
            activation as a quantitative phenotype
  JOURNAL   Schizophr Bull 35 (1), 96-108 (2009)
   PUBMED   19023125
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   3  (bases 1 to 1492)
  AUTHORS   Wang,H.T., Chang,J.W., Guo,Z. and Li,B.G.
  TITLE     In silico-initiated cloning and molecular characterization of
            cortexin 3, a novel human gene specifically expressed in the kidney
            and brain, and well conserved in vertebrates
  JOURNAL   Int. J. Mol. Med. 20 (4), 501-510 (2007)
   PUBMED   17786280
  REMARK    GeneRIF: Selective expression of CTXN3 in the kidney and brain, the
            amino acid identity to cortexin, and its high conservation among
            different species indicate that CTXN3 may be involved in a process
            specifically restricted to kidney and brain tissue function.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA623980.1 and AB219832.1.
            
            Transcript Variant: This variant (2) utilizes an alternate first
            exon. Transcript variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB219832.1, BG429351.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084, ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                DA623980.1         3-36
            35-1492             AB219832.1         1-1458
FEATURES             Location/Qualifiers
     source          1..1492
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.2"
     gene            1..1492
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /note="cortexin 3"
                     /db_xref="GeneID:613212"
                     /db_xref="HGNC:31110"
     exon            1..177
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /inference="alignment:Splign:1.39.8"
     variation       35
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138602174"
     variation       43
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:17764136"
     variation       77
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:183365539"
     variation       93
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:186610657"
     exon            178..284
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /inference="alignment:Splign:1.39.8"
     variation       236
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369139180"
     variation       245
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:148391974"
     variation       248
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:191863446"
     exon            285..1492
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /inference="alignment:Splign:1.39.8"
     variation       320
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:118045245"
     misc_feature    333..335
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /note="upstream in-frame stop codon"
     variation       342
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200535255"
     variation       346
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200285737"
     CDS             384..629
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /note="kidney and brain-expressed protein"
                     /codon_start=1
                     /product="cortexin-3"
                     /protein_id="NP_001120857.1"
                     /db_xref="GI:188497722"
                     /db_xref="CCDS:CCDS34221.1"
                     /db_xref="GeneID:613212"
                     /db_xref="HGNC:31110"
                     /translation="
MDGGQPIPSSLVPLGNESADSSMSLEQKMTFVFVILLFIFLGILIVRCFRILLDPYRSMPTSTWADGLEGLEKGQFDHALA
"
     misc_feature    384..626
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /note="Cortexin of kidney; Region: Cortexin; pfam11057"
                     /db_xref="CDD:151503"
     misc_feature    468..530
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4LDR2.1);
                     transmembrane region"
     variation       395
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143894118"
     variation       402
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145954174"
     variation       416
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:139789028"
     variation       419
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:45074"
     variation       422
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199834318"
     variation       431
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375454212"
     variation       432
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:61743797"
     variation       433
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:248709"
     variation       446
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:184028256"
     variation       452
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2280170"
     variation       455
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:188132166"
     variation       533
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200025270"
     variation       548
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201631910"
     variation       566
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:368464050"
     variation       584
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:370866029"
     variation       594
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:147610610"
     variation       611
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142310306"
     variation       632
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:367856467"
     variation       687
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:114243151"
     variation       703
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148234170"
     variation       844
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:113670316"
     STS             885..1013
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /standard_name="WI-13514"
                     /db_xref="UniSTS:18858"
     variation       899
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373092149"
     variation       932
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140205502"
     variation       998
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:181044035"
     variation       1008
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:248708"
     variation       1009
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368868932"
     variation       1064
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150321324"
     variation       1092
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:248707"
     variation       1128
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:248706"
     variation       1140
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:374099039"
     variation       1160
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:137955368"
     variation       1184
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149452258"
     STS             1191..1380
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /standard_name="RH102093"
                     /db_xref="UniSTS:96427"
     variation       1228
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:118171155"
     variation       1342
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370120143"
     variation       1343
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185483810"
     variation       1405
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:199902524"
     variation       1432
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:190738458"
     variation       1483
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370634745"
     variation       1485
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:116673667"
     variation       1486
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375045772"
ORIGIN      
aaaggttttctgaggggaagagtggtgagatctgggcttaaaaagatgaatcgagatgcagtgtgtaggaagcatgggcaagggatgaggaacgccactttgaaaattactaaaactaaagcaagtgactaagagtgtgaatgaccctggctgcaatgactacgcctgctgggcttctattaaaattagactctatttcctgagcacccacaaatggacctgacaaagggaagacacagatgtactgcgtgatgaggaaagcctatcaggattaaaatatggctataactcagcctctccagagtgcagccaccatgacctccgcagattgatgatggaagaaaagaaaaccaggatatcctgtgctctggcttccctggaccatggatggaggacagcccatcccctcatccctagtgccccttgggaacgaatcagcagattctagcatgtccctggagcagaaaatgacatttgtttttgtgattctgttgtttattttcttgggcattctcattgtccggtgcttccggattcttttggatccatatcgaagcatgccaacctctacctgggctgatggacttgaaggcctggagaaagggcagttcgaccatgcccttgcttaggagggatggtgtgggatctcctcctgaggagatgaagtgctttgtgtcttggtgaggattccctttatttagtgttctcaacaaatcaaatttaaacaatatttggtcccaggaccataatccattattccataaatatgcagttgggttaaagacatttgaggatgttggaaatggacacttatataactaatccaacataagaaggtttaaatttttatgtttgctcaatgaatgagtactcttaaaattgtgtgattgtgaaaccaagagcgttaatactgacatagatttgccatcaaacaaaacaccacctgatctgactaaagaataaaagactagaaaggatctcatatgaatctggtgacaaggccaggaagagatttccttgctctaattatgtctatatttgttttatttcatgggcacctatctgggtcctgagcagaatgaggaagattgtgctgaatggacccaaagtagtttcttgttttctcccaaagcagggagctttgggaagcaatggaaaagcttaaaagagatgattctgtccttggtaaatgtgagtgagaatagcgttttgtttttcaagtaaaacttaattcaaaggctacaaagttttaaaaactatttaccaagccaactacattatatgtattcatattaataacatgtgtagaggtagctatacattacttgaatttacactttacacaaatgatttaaaaaataggttgcaagtgcagcttaaagttttttttcaatgaaaagttaattgtttagaggagaagacttttatagtcttcagaggaatgtgtatttatgattgtatatagtcaccaaataaaacttttcaagaaaca
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:613212 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.