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2025-05-09 19:13:56, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005149 2882 bp mRNA linear PRI 13-APR-2013
DEFINITION Homo sapiens T-box 19 (TBX19), mRNA.
ACCESSION NM_005149
VERSION NM_005149.2 GI:170671702
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 2882)
AUTHORS Smith,C.J., Bensing,S., Burns,C., Robinson,P.J.,
Kasperlik-Zaluska,A.A., Scott,R.J., Kampe,O. and Crock,P.A.
TITLE Identification of TPIT and other novel autoantigens in lymphocytic
hypophysitis: immunoscreening of a pituitary cDNA library and
development of immunoprecipitation assays
JOURNAL Eur. J. Endocrinol. 166 (3), 391-398 (2012)
PUBMED 22193973
REMARK GeneRIF: TPIT is identified as a target autoantigen in 10.5% of
patients with lymphocytic hypophysitis.
REFERENCE 2 (bases 1 to 2882)
AUTHORS Couture,C., Saveanu,A., Barlier,A., Carel,J.C., Fassnacht,M.,
Fluck,C.E., Houang,M., Maes,M., Phan-Hug,F., Enjalbert,A.,
Drouin,J., Brue,T. and Vallette,S.
TITLE Phenotypic homogeneity and genotypic variability in a large series
of congenital isolated ACTH-deficiency patients with TPIT gene
mutations
JOURNAL J. Clin. Endocrinol. Metab. 97 (3), E486-E495 (2012)
PUBMED 22170728
REMARK GeneRIF: Identification of nine new TPIT mutations in a large
series of congenital isolated ACTH-deficiency patients.
REFERENCE 3 (bases 1 to 2882)
AUTHORS Budry,L., Couture,C., Balsalobre,A. and Drouin,J.
TITLE The Ets factor Etv1 interacts with Tpit protein for pituitary
pro-opiomelanocortin (POMC) gene transcription
JOURNAL J. Biol. Chem. 286 (28), 25387-25396 (2011)
PUBMED 21622576
REMARK GeneRIF: The coordinate expression of Etv1 with POMC cell
differentiation and its interaction with the highly cell-restricted
Tpit factor indicate that Etv1 participates in a combinatorial code
for pituitary cell-specific gene expression.
REFERENCE 4 (bases 1 to 2882)
AUTHORS Ehret,G.B., O'Connor,A.A., Weder,A., Cooper,R.S. and Chakravarti,A.
TITLE Follow-up of a major linkage peak on chromosome 1 reveals
suggestive QTLs associated with essential hypertension: GenNet
study
JOURNAL Eur. J. Hum. Genet. 17 (12), 1650-1657 (2009)
PUBMED 19536175
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 2882)
AUTHORS Cheung,C.L., Chan,B.Y., Chan,V., Ikegawa,S., Kou,I., Ngai,H.,
Smith,D., Luk,K.D., Huang,Q.Y., Mori,S., Sham,P.C. and Kung,A.W.
TITLE Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible
genetic association with bone mineral density variation
JOURNAL Hum. Mol. Genet. 18 (4), 679-687 (2009)
PUBMED 19064610
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (bases 1 to 2882)
AUTHORS Pulichino,A.M., Vallette-Kasic,S., Tsai,J.P., Couture,C.,
Gauthier,Y. and Drouin,J.
TITLE Tpit determines alternate fates during pituitary cell
differentiation
JOURNAL Genes Dev. 17 (6), 738-747 (2003)
PUBMED 12651892
REFERENCE 7 (bases 1 to 2882)
AUTHORS Pulichino,A.M., Vallette-Kasic,S., Couture,C., Gauthier,Y.,
Brue,T., David,M., Malpuech,G., Deal,C., Van Vliet,G., De
Vroede,M., Riepe,F.G., Partsch,C.J., Sippell,W.G., Berberoglu,M.,
Atasay,B. and Drouin,J.
TITLE Human and mouse TPIT gene mutations cause early onset pituitary
ACTH deficiency
JOURNAL Genes Dev. 17 (6), 711-716 (2003)
PUBMED 12651888
REMARK GeneRIF: TPIT has a role in expression of the pro-opiomelanocortin
gene and terminal differentiation of the pituitary corticotroph
lineage, and its mutation causes early onset pituitary ACTH
deficiency
REFERENCE 8 (bases 1 to 2882)
AUTHORS Asteria,C.
TITLE T-box and isolated ACTH deficiency
JOURNAL Eur. J. Endocrinol. 146 (4), 463-465 (2002)
PUBMED 11916612
REMARK GeneRIF: Review. Association of 2 mutations with an ACTH
deficiency is consistent with the role of tbx19 in differentiation
of POMC cells.
Review article
REFERENCE 9 (bases 1 to 2882)
AUTHORS Lamolet,B., Pulichino,A.M., Lamonerie,T., Gauthier,Y., Brue,T.,
Enjalbert,A. and Drouin,J.
TITLE A pituitary cell-restricted T box factor, Tpit, activates POMC
transcription in cooperation with Pitx homeoproteins
JOURNAL Cell 104 (6), 849-859 (2001)
PUBMED 11290323
REFERENCE 10 (bases 1 to 2882)
AUTHORS Yi,C.H., Terrett,J.A., Li,Q.Y., Ellington,K., Packham,E.A.,
Armstrong-Buisseret,L., McClure,P., Slingsby,T. and Brook,J.D.
TITLE Identification, mapping, and phylogenomic analysis of four new
human members of the T-box gene family: EOMES, TBX6, TBX18, and
TBX19
JOURNAL Genomics 55 (1), 10-20 (1999)
PUBMED 9888994
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AJ010277.1 and AK091404.1.
This sequence is a reference standard in the RefSeqGene project.
On Mar 22, 2008 this sequence version replaced gi:4827023.
Summary: This gene is a member of a phylogenetically conserved
family of genes that share a common DNA-binding domain, the T-box.
T-box genes encode transcription factors involved in the regulation
of developmental processes. Mutations in this gene were found in
patients with isolated deficiency of pituitary POMC-derived ACTH,
suggesting an essential role for this gene in differentiation of
the pituitary POMC lineage. ACTH deficiency is characterized by
adrenal insufficiency symptoms such as weight loss, lack of
appetite (anorexia), weakness, nausea, vomiting, and low blood
pressure. [provided by RefSeq, Jul 2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AJ010277.1, BC093664.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-2340 AJ010277.1 1-2340
2341-2820 AK091404.1 2037-2516
2821-2882 AJ010277.1 2821-2882
FEATURES Location/Qualifiers
source 1..2882
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q24.2"
gene 1..2882
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/note="T-box 19"
/db_xref="GeneID:9095"
/db_xref="HGNC:11596"
/db_xref="HPRD:05214"
/db_xref="MIM:604614"
exon 1..254
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/inference="alignment:Splign:1.39.8"
misc_feature 1..3
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/note="upstream in-frame stop codon"
STS 16..1429
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/db_xref="UniSTS:483486"
variation 30
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:200517364"
variation 31
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:187423054"
variation 49
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:367613004"
CDS 52..1398
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/note="TBS 19; T-box protein 19; T-box factor, pituitary"
/codon_start=1
/product="T-box transcription factor TBX19"
/protein_id="NP_005140.1"
/db_xref="GI:4827024"
/db_xref="CCDS:CCDS1272.1"
/db_xref="GeneID:9095"
/db_xref="HGNC:11596"
/db_xref="HPRD:05214"
/db_xref="MIM:604614"
/translation="
MAMSELGTRKPSDGTVSHLLNVVESELQAGREKGDPTEKQLQIILEDAPLWQRFKEVTNEMIVTKNGRRMFPVLKISVTGLDPNAMYSLLLDFVPTDSHRWKYVNGEWVPAGKPEVSSHSCVYIHPDSPNFGAHWMKAPISFSKVKLTNKLNGGGQIMLNSLHKYEPQVHIVRVGSAHRMVTNCSFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERNHLRDVPEAISESQHVTYSHLGGWIFSNPDGVCTAGNSNYQYAAPLPLPAPHTHHGCEHYSGLRGHRQAPYPSAYMHRNHSPSVNLIESSSNNLQVFSGPDSWTSLSSTPHASILSVPHTNGPINPGPSPYPCLWTISNGAGGPSGPGPEVHASTPGAFLLGNPAVTSPPSVLSTQAPTSAGVEVLGEPSLTSIAVSTWTAVASHPFAGWGGPGAGGHHSPSSLDG
"
misc_feature 169..717
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/note="T-box DNA binding domain of the T-box family of
transcriptional regulators. The T-box family is an ancient
group that appears to play a critical role in development
in all animal species. These genes were uncovered on the
basis of similarity to the DNA...; Region: TBOX; cd00182"
/db_xref="CDD:29144"
misc_feature order(235..237,241..258,262..264,349..351,532..534,
634..642,658..660,670..672,679..705)
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:29144"
misc_feature order(307..309,436..444,571..573)
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/note="dimerization interface [polypeptide binding]; other
site"
/db_xref="CDD:29144"
variation 61
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:190633524"
variation 76
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:146259816"
variation 87
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:144173772"
variation 112
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:372107667"
variation 113
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:149094298"
variation 133
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:202179787"
variation 156
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:34284181"
variation 197
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:138336580"
exon 255..519
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/inference="alignment:Splign:1.39.8"
variation 308
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="g"
/replace="t"
/db_xref="dbSNP:74315378"
variation 312
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:376338008"
variation 338
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:138884950"
variation 339
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:376493164"
variation 349
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:369516206"
variation 366
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:143801899"
variation 378
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:201089616"
variation 381
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:148222296"
variation 402
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:200376346"
variation 414
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:373440757"
variation 420
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:112910251"
variation 432
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:369030642"
variation 434
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:74315377"
variation 436
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="c"
/db_xref="dbSNP:200208381"
variation 439
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:142648227"
variation 440
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:372115950"
variation 511
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:375592995"
variation 513
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:34342577"
exon 520..654
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/inference="alignment:Splign:1.39.8"
variation 534
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="g"
/replace="t"
/db_xref="dbSNP:199559734"
variation 535
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:368646786"
variation 568
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:371934190"
variation 586
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:200197424"
variation 587
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:139968594"
variation 630
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:376849434"
variation 648
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:143377172"
exon 655..716
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/inference="alignment:Splign:1.39.8"
variation 660
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:199994044"
variation 678
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:140528998"
exon 717..778
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/inference="alignment:Splign:1.39.8"
variation 733
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:373113854"
variation 744
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:141612171"
variation 747
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:202067639"
variation 761
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:201741262"
variation 775
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:202072731"
exon 779..967
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/inference="alignment:Splign:1.39.8"
variation 811
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:145383177"
variation 812
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:77425733"
variation 847
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:368059098"
variation 873
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:141383527"
variation 900
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:145436332"
variation 907
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:74315376"
variation 918
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:149773867"
variation 948
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:149005522"
exon 968..1103
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/inference="alignment:Splign:1.39.8"
variation 988
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="c"
/db_xref="dbSNP:368259445"
variation 1045
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="c"
/db_xref="dbSNP:146602640"
variation 1076
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:372264894"
variation 1079
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:137938456"
variation 1080
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:141608452"
variation 1087
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:113436244"
exon 1104..2822
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/inference="alignment:Splign:1.39.8"
variation 1113
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:77017796"
variation 1123
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:200410315"
variation 1140
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:369468092"
variation 1141
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:199644548"
variation 1147
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:373407654"
variation 1153
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:138278388"
variation 1163
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:138080739"
variation 1164
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:374611735"
variation 1173
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:34885709"
variation 1174
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="g"
/replace="t"
/db_xref="dbSNP:76536877"
variation 1179
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:142374002"
variation 1183
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:377712241"
variation 1189
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:370573055"
variation 1198
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:200775601"
variation 1200
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:139271595"
variation 1216
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:144416092"
variation 1232
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:376855161"
variation 1256
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:370560582"
variation 1257
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:373913285"
variation 1260
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:368420917"
variation 1262
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:146641804"
variation 1268
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="c"
/db_xref="dbSNP:146860116"
variation 1275
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:149058755"
variation 1328
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:148791684"
variation 1329
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:200161002"
variation 1338
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:370679374"
variation 1340
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:189380651"
variation 1345
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="g"
/replace="t"
/db_xref="dbSNP:201988334"
variation 1361
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:147003438"
variation 1369
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:182020232"
variation 1383
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:34997986"
variation 1419
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="t"
/db_xref="dbSNP:3885717"
variation 1424
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:143627386"
variation 1437
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="t"
/db_xref="dbSNP:183737051"
variation 1584
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:10918869"
variation 1649
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:1000533"
variation 1665
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:146307337"
variation 1769
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:188457637"
variation 1867
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:16860362"
variation 1877
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:1003315"
variation 1942
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:144304383"
variation 1952
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:181087534"
variation 1965
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:115894164"
variation 1982
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:114399220"
variation 1993
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="t"
/db_xref="dbSNP:117863071"
variation 2094
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:151060403"
variation 2221
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:186602506"
variation 2317..2320
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace=""
/replace="aaag"
/db_xref="dbSNP:145923688"
variation 2317
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace=""
/replace="aaag"
/db_xref="dbSNP:10558612"
variation 2320..2323
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace=""
/replace="gaaa"
/db_xref="dbSNP:67726248"
variation 2320
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:76137849"
variation 2334
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace=""
/replace="agaa"
/db_xref="dbSNP:35636083"
variation 2352
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:140853969"
variation 2553
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:77202012"
STS 2601..2733
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/standard_name="G35325"
/db_xref="UniSTS:24617"
variation 2632
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:149712948"
variation 2633
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:112010969"
variation 2649
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:377117067"
variation 2795
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:191452002"
polyA_signal 2801..2806
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
polyA_site 2822
/gene="TBX19"
/gene_synonym="dJ747L4.1; TBS19; TPIT"
ORIGIN
tagaagcaggcaagttgggtaacggctctcggcaaagttcgagaagtgcctatggccatgagtgagctgggcactcggaagcccagcgatggcactgtttctcatctgctcaatgtggtggagagtgagcttcaggcagggagggaaaaaggcgaccctacggagaagcaacttcagatcatcctggaggatgcacctctctggcagagattcaaggaagtcactaatgagatgattgtgaccaagaatggcagacggatgtttccagtcctaaagattagtgtcacagggttggaccccaatgccatgtactccctcctgctggactttgtccctacggacagtcaccgctggaagtacgtcaacggggaatgggtgcccgctggcaagccagaggtctccagccacagctgcgtctacattcacccggactcccccaactttggggcccactggatgaaagctcccatctccttcagcaaagtgaagctgaccaacaagctcaatggaggcgggcagataatgttgaattctctgcataaatatgaaccccaggttcacatagtgcgtgttggaagtgcccatcgaatggtaacaaactgctccttccctgaaacccagttcatagccgtgactgcctatcagaatgaggagataacggctctcaaaatcaagtacaatccttttgccaaagccttcttggatgccaaggaaagaaatcacctaagagacgtaccggaggctatctctgagagccagcatgtgacctattctcacttgggaggctggatcttttccaatccagatggagtgtgcacagcaggaaactccaattaccagtatgccgctcctctgcctctgcctgctccccacacccaccatggctgtgagcactattcgggtctccgaggacaccggcaggctccctacccttctgcgtacatgcacagaaaccattctccctcagtgaatttgatagaaagctcaagcaataatctgcaagttttctcgggacctgacagctggacttccttatcctccacaccccatgccagcatcctgtctgtaccccacaccaacggaccaatcaatccagggcccagcccctacccgtgcctgtggaccatcagcaatggtgccggaggccccagtgggccaggcccggaggtgcacgccagcaccccaggagcatttctcctcggaaacccagctgtgacttcacccccttctgtgctctccacccaagcacccacttcggctggtgtggaggttctgggggagccctcgctaaccagcattgctgtgtccacctggacagcagtggcctcgcatcccttcgcgggctggggtggcccaggagcgggtgggcaccattctccttcctcactggatggttaagcaggatcctaggagcctctttgcacagcgatccttccatgtgtagagtgcttagaaaccccatcaactgatctagtgagtcagactgtggaatctcccttcccactagctggaggtggaggtgggttattacagaagtcatactgggagagggttcagtttggatgatgctagttagatcatttgcatctctccaccattttcttctgcactcccattttctctgcagcttattcttgccatgcttaggtgacagaagtttgttaagtaccatccttgtgccctgcctcttattctcaaatcgttctggaaagcctcacttccttttctgtggagaaggtgcaaagctgttaaatgagctcagagtttacctagctaaggccactgcttcctgctttgtgaagcctggaaagtatgtgtggccacagggctcaggttcacacttctgctttgagaccaggatggggtgtaagccatagagtaaggttaacaaaaagaataaagctaatcatgtattacaaacagcagtgtgcccagacttgtggaaatgaagtcatgtcactcctctgctcagaaaccttcaatggttcaccattaccagtggaatgaagtcaattctcctcactataactgggtgtggtagtttaagcctataatctcagcccttttggaggccaaggtaagaggatcgcttgaggtcaggagttcgagaccagcttgtgcaacaaagtgagagcctgtctctacaaaaaatagtcatgcacacaaaattagctgggcatggtggcctgtgcctatagtcccaactacttagaggaggatcgcttgatctcaggaggttgaggctgcagtgaattatgattgtggcattgcactccagcctgggtggtagatcaaggctttgtttcatttgaaaaaaaagaaagaaagaaagaaagaaagaaatcctactacgagcgatcacaccatctggcctgaaaccacttccccagcttaggtccctctgttatcctgttggcctcctatgtattggtcaaggcaggcatctctgttctctgaacattcattgcactttcccacctctataccttgcctgtgccttagtgtcctcttttttccagttcacctgtgcgaatccgacccacctcccagagcctggctgaaacgtcactccctgcatccaacatctgatctgctgagatatgtctgatctatctctgctcgctgttctcccgttgtttttgcctctgccatagagctcacctcattttgccttgtatttttgttacctgtgagtgtgtctctccctattagactgtaagcctctcgagggtgaggcctagccttcttgtctttgtaacccacagcagctggtactgtgccttgcctattgtaggtgcccaataaacatttgctgaactgaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9095 -> Molecular function: GO:0001158 [enhancer sequence-specific DNA binding] evidence: IEA
GeneID:9095 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:9095 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:9095 -> Biological process: GO:0006357 [regulation of transcription from RNA polymerase II promoter] evidence: TAS
GeneID:9095 -> Biological process: GO:0009653 [anatomical structure morphogenesis] evidence: TAS
GeneID:9095 -> Biological process: GO:0021983 [pituitary gland development] evidence: IEA
GeneID:9095 -> Biological process: GO:0042127 [regulation of cell proliferation] evidence: IEA
GeneID:9095 -> Biological process: GO:0045165 [cell fate commitment] evidence: IEA
GeneID:9095 -> Biological process: GO:0045595 [regulation of cell differentiation] evidence: IEA
GeneID:9095 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:9095 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
by
@meso_cacase at
DBCLS
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