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2025-05-09 20:08:48, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_147192 2896 bp mRNA linear PRI 18-JUN-2013 DEFINITION Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA. ACCESSION NM_147192 VERSION NM_147192.2 GI:27436934 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 2896) AUTHORS Miyamoto,T., Yu,Y.S., Sato,H., Hayashi,H., Sakugawa,N., Ishikawa,M. and Sengoku,K. TITLE Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract JOURNAL Turk. J. Pediatr. 49 (3), 334-336 (2007) PUBMED 17990594 REMARK GeneRIF: no indications were found for an association between the MBX gene and microphthalmia with congenital cataract in humans REFERENCE 2 (bases 1 to 2896) AUTHORS Zhang,Y., Miki,T., Iwanaga,T., Koseki,Y., Okuno,M., Sunaga,Y., Ozaki,N., Yano,H., Koseki,H. and Seino,S. TITLE Identification, tissue expression, and functional characterization of Otx3, a novel member of the Otx family JOURNAL J. Biol. Chem. 277 (31), 28065-28069 (2002) PUBMED 12055180 REFERENCE 3 (bases 1 to 2896) AUTHORS Kawahara,A., Chien,C.B. and Dawid,I.B. TITLE The homeobox gene mbx is involved in eye and tectum development JOURNAL Dev. Biol. 248 (1), 107-117 (2002) PUBMED 12142024 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL137797.9. On Dec 31, 2002 this sequence version replaced gi:22218348. Summary: This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (b) is longer than isoform a. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: AF398528.1 [ECO:0000332] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-168 AL137797.9 22031-22198 c 169-363 AL137797.9 18540-18734 c 364-712 AL137797.9 17911-18259 c 713-2896 AL137797.9 14968-17151 c FEATURES Location/Qualifiers source 1..2896 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p33" gene 1..2896 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /note="diencephalon/mesencephalon homeobox 1" /db_xref="GeneID:127343" /db_xref="HGNC:19026" /db_xref="HPRD:07593" /db_xref="MIM:607410" STS 1..1214 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /db_xref="UniSTS:481306" exon 1..168 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /inference="alignment:Splign:1.39.8" misc_feature 1..3 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /note="upstream in-frame stop codon" variation 5 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /replace="c" /replace="t" /db_xref="dbSNP:374500772" variation 13 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /replace="a" /replace="g" /db_xref="dbSNP:370188576" CDS 16..1164 /gene="DMBX1" /gene_synonym="MBX; OTX3; PAXB" /note="isoform b is encoded by transcript variant 2; diencephalon/mesencephalon homeobox protein 1; homeoprotein MBX; paired-like homeobox protein DMBX1; orthodenticle homolog 3" /codon_start=1 /product="diencephalon/mesencephalon homeobox protein 1 isoform b" /protein_id="NP_671725.1" /db_xref="GI:22218349" /db_xref="GeneID:127343" /db_xref="HGNC:19026" /db_xref="HPRD:07593" /db_xref="MIM:607410" /translation="
MQHYGVNGYSLHAMNSLSAMYNLHQQAAQQAQHAPDYRPSVHALTLAERLAGCTFQDIILEARYGSQHRKQRRSRTAFTAQQLEALEKTFQKTHYPDVVMRERLAMCTNLPEARVQVWFKNRRAKFRKKQRSLQKEQLQKQKEAEGSHGEGKAEAPTPDTQLDTEQPPRLPGSDPPAELHLSLSEQSASESAPEDQPDREEDPRAGAEDPKAEKSPGADSKGLGCKRGSPKADSPGSLTITPVAPGGGLLGPSHSYSSSPLSLFRLQEQFRQHMAATNNLVHYSSFEVGGPAPAAAAAAAAVPYLGVNMAPLGSLHCQSYYQSLSAAAAAHQGVWGSPLLPAPPAGLAPASATLNSKTTSIENLRLRAKQHAASLGLDTLPN
"
misc_feature 16..483
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8NFW5.1);
Region: Interacts with OXT2 and is required for repressor
activity (By similarity)"
misc_feature 229..390
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/note="Homeodomain; DNA binding domains involved in the
transcriptional regulation of key eukaryotic developmental
processes; may bind to DNA as monomers or as homo- and/or
heterodimers, in a sequence-specific manner; Region:
homeodomain; cd00086"
/db_xref="CDD:28970"
misc_feature order(229..243,247..249,298..300,316..318,355..357,
361..366,373..378,382..390)
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(235..237,244..246,364..366,373..378,385..387)
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
misc_feature 1078..1137
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/note="OAR domain; Region: OAR; pfam03826"
/db_xref="CDD:146451"
misc_feature 1090..1131
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8NFW5.1);
Region: OAR"
variation 27
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:12567122"
variation 36
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:367639229"
variation 37
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:150745846"
variation 50
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:200210218"
variation 51
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:374758116"
variation 74
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:143983496"
variation 121
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:373771353"
variation 143
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/db_xref="dbSNP:140704174"
variation 144
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:145308708"
exon 169..363
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/inference="alignment:Splign:1.39.8"
variation 170
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="g"
/replace="t"
/db_xref="dbSNP:375847436"
variation 216
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:143266203"
variation 238
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:369165822"
variation 264
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:138324077"
variation 265
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:200150597"
variation 270
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:371280083"
variation 309
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="g"
/replace="t"
/db_xref="dbSNP:61783067"
variation 333
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:146197824"
exon 364..712
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/inference="alignment:Splign:1.39.8"
variation 377
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/db_xref="dbSNP:74464457"
variation 395
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:370554452"
variation 407
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:114953520"
variation 427
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:149299860"
variation 471
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:372496884"
variation 474
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:12045245"
variation 478
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:145934527"
variation 492
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:200899250"
variation 534
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:151117979"
variation 537
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:376934145"
variation 558
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:199686942"
variation 585
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:114333846"
variation 594
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:1886116"
variation 605
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:375524919"
variation 606
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:147071342"
variation 610
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:367816701"
variation 611
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:372261765"
variation 622
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:115343921"
variation 628
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:34614765"
variation 658
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:373602097"
exon 713..2896
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/inference="alignment:Splign:1.39.8"
variation 731
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:370771109"
variation 732
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:150344066"
variation 765
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:115917561"
variation 773
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:139786857"
variation 775
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:144464601"
variation 789
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:114951731"
variation 810
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:61751016"
variation 849
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:115399725"
variation 874
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:142474862"
variation 883
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="g"
/replace="t"
/db_xref="dbSNP:115396595"
variation 884
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:114486361"
variation 888
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:373688410"
variation 901
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:141010936"
variation 905
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:138584907"
variation 934
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:201908017"
variation 940
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:371865943"
variation 941
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:375031869"
variation 948
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:150752861"
variation 964
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:369755167"
variation 983
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/db_xref="dbSNP:149421625"
variation 992
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:374555836"
variation 996
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:140036474"
variation 1037
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:199979775"
variation 1074
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/db_xref="dbSNP:11211298"
variation 1098
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:369949886"
variation 1116
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:200612868"
variation 1128
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:199960312"
variation 1130
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:181379491"
variation 1146
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:142368793"
variation 1151
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:200058413"
variation 1167
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:368955765"
variation 1322
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:112537002"
variation 1404..1405
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace=""
/replace="c"
/db_xref="dbSNP:142758317"
variation 1422
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:12071940"
variation 1495
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:2209172"
variation 1546
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:186803752"
variation 1591
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:114867455"
variation 1630
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:143592398"
variation 1631
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/db_xref="dbSNP:74410820"
variation 1712
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:371019500"
variation 1730
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:377491264"
variation 1745
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:374155162"
variation 1867
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="c"
/db_xref="dbSNP:200007091"
variation 1883
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:2209171"
variation 1944
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:56393814"
variation 1989
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:372957027"
variation 2081
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:12743451"
variation 2083
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:12760913"
variation 2086
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:147198520"
variation 2220
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:4660355"
variation 2252
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:117377891"
variation 2341
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:7515750"
variation 2361
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:375714215"
variation 2369
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:182212130"
variation 2462
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="g"
/db_xref="dbSNP:140564592"
variation 2487
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="t"
/db_xref="dbSNP:375433020"
variation 2552
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="c"
/replace="g"
/db_xref="dbSNP:59809955"
STS 2674..2837
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/standard_name="D1S1425"
/db_xref="UniSTS:149621"
STS 2728..2838
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/standard_name="D10S275"
/db_xref="UniSTS:147992"
variation 2882
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace=""
/replace="c"
/db_xref="dbSNP:146705383"
variation 2883
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace=""
/replace="a"
/db_xref="dbSNP:200104418"
variation 2891
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:7516056"
variation 2892..2893
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace=""
/replace="t"
/db_xref="dbSNP:58074712"
variation 2893..2894
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace=""
/replace="t"
/db_xref="dbSNP:67710812"
variation 2895..2896
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace=""
/replace="at"
/replace="t"
/db_xref="dbSNP:59105548"
variation 2895
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:3059464"
variation 2896
/gene="DMBX1"
/gene_synonym="MBX; OTX3; PAXB"
/replace="a"
/replace="t"
/db_xref="dbSNP:71500098"
ORIGIN
taggcggatgccgccatgcagcactacggggtgaacggctactcactgcacgccatgaactcactcagcgccatgtacaacctgcaccagcaggcagcccagcaggcccagcatgcccccgactaccggccttcagtgcatgcgcttacattggctgagcgcctggctggctgtacatttcaagacatcatcttggaggcccgttatggttcccagcaccgcaaacaacgtcgcagccgcacagcgttcacggctcagcagctcgaggccctggaaaagaccttccagaagactcactacccagatgtggtgatgcgtgagaggctggccatgtgcaccaacctgcctgaggcccgggtgcaggtgtggttcaagaaccgccgggccaagttccggaagaagcagcgtagcctgcagaaggaacagctccagaagcagaaggaggctgagggctcccatggggaaggcaaggccgaggcccccactccagatacccagctggacactgagcagcccccacgtctgcctggcagcgacccccctgctgagcttcacctgagtctgtctgagcagtcagccagtgagtcagcccccgaggatcagccggaccgtgaggaggaccccagggcaggggctgaggaccccaaagctgagaagagccctggggctgacagcaaggggctgggctgcaagaggggcagccccaaggcagattccccaggcagcctgaccatcactcctgtggccccagggggtggcctcctgggcccctcccactcctattcctcgtccccgctgagcctcttccgtctgcaggagcaattccgccagcacatggcggccaccaacaacctggtgcactactcgtccttcgaagtagggggtccggcccctgctgctgcagcggcggctgctgctgtgccctacctgggcgtcaacatggccccgctgggctcactgcactgccagtcctactaccagtccctgtcagcagccgctgctgcccaccagggtgtgtgggggtctcctctgctgcctgcacccccagcaggcctggctcctgcatcagctaccctgaacagtaaaaccacaagcatcgagaacctgcggctccgggccaagcagcacgcggcctccctgggactcgatacgctgcccaactgactgtctggcttccaacccagccaggggtcttaggtgtcccctcctagccctgtggttatccctaggtggctctcgaggagttaactccatgagcccagggatcctagggcctggggtcctgttccctgctccgcttccccataccccagcccgaggtgaagcccacacctacacaccctctgcatggccctgcctggaccccatggaggccgaatagggaggaggtgagaggctggggtgccccaagcttccctcggagaagtgagaggctctccctggctagatcctcatctcaatagcacctcctcccttttctccctatccttctgccccctagtaagtctacgtgtggaatgtgagatataaatataaatatataaagctatattttcaggctcctgcctgccccaggccccctgccccactcccatctcttcttccctgccacccctccctgcagcctccgcggctcactccagccatcccttctgtttctccttctctctccttccttcttcccttgatctccctcttcctgtctctgtcctggtccctgcccccgtctcggcccagcctctgtattctccacccttgatctttctccttgtctctcccgctgcccctggtttcttcctttggtgttggctgtgttggtatcatcagttcttgagctatattttgtttggggttgtggctggttttggttttagtaattttgcgacttcccgttgctctccttctattcccttccttctgccctgcctgcctccctgcacctgcggcctctctaggaagctgttcctttctatgcccaatagaagcaacaaggccctagctggagactctggggatctggagctgcaggcaggaggtggcactggctcccactcccacccctgcccaggctggcatctagaaggcgtcatgaattactttctcttctctcttctcaattttgaggtcctcattcccaagattgaggaggcagtagttaatctgggaaggcagtagaatggccagcattcctgcctgtaagtcttcccaagacagaggcccggtgacacagttcagccaggactgaccacagggctctagagctctctttggtgagacttccctggatggagagcagcagcaggggaagaggtgctctcagagacagcagggctggtgctcttctcccacaagctgagcctccacgttcagcagatactgtccaaggcaggggtacggctgaccaggaatgaaggttgaactctgctcctgagcacggtgcgtgcaaagcatatagcagcacataggctcaggcttctgtaggcttcctgtcccagagccaattatggaagtaagggcttccctccagctagtcactggaatggaaaagtgtgttcctgttcatagccaggaaacccagctcagcaaactccctttcaaagctgtgtgaccggctgggcatggtggctcacacctgtaatcccagcactttgggaggccaaggcaggcaatcacctgaggtcaggagttcaagaccagcctggctaacatgtgaaactaataataatacaaaaattagctgggcgtggtggcacatgcctgtaatcccagctacttgggaggctgagttgggaggattgctgcaatctgggaggtggaagttgcagtgagccgagatcatgccactgcactccagcctgggcgacggagtgagactccatctcaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:127343 -> Molecular function: GO:0003677 [DNA binding] evidence: ISS
GeneID:127343 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: ISS
GeneID:127343 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IEA
GeneID:127343 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: ISS
GeneID:127343 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IEA
GeneID:127343 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:127343 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:127343 -> Biological process: GO:0007417 [central nervous system development] evidence: ISS
GeneID:127343 -> Biological process: GO:0007420 [brain development] evidence: ISS
GeneID:127343 -> Biological process: GO:0008343 [adult feeding behavior] evidence: IEA
GeneID:127343 -> Biological process: GO:0008344 [adult locomotory behavior] evidence: IEA
GeneID:127343 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: ISS
GeneID:127343 -> Biological process: GO:0048589 [developmental growth] evidence: ISS
GeneID:127343 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA
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