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2025-05-09 19:30:52, 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 from NCBI Entrez Gene (20130726):
GeneID:613212 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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