Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9095
Gene name	T-box transcription factor 19
Gene symbol	TBX19
Synonyms (NCBI Gene)	TBS19TPITdJ747L4.1
Chromosome	1
Chromosome location	1q24.2
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 p

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315376	C>T	Pathogenic	Stop gained, coding sequence variant
rs74315377	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315378	T>G	Pathogenic	Missense variant, coding sequence variant
rs140528998	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs200043223	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs730880274	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs748717639	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs760520604	TGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs763818059	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553289042	C>T	Pathogenic	Coding sequence variant, stop gained
rs1558190339	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1558192351	G>-	Pathogenic	Coding sequence variant, splice donor variant

105

Show/Hide all (105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003092	hsa-miR-122-5p	Luciferase reporter assayqRT-PCR	19296470
MIRT017792	hsa-miR-335-5p	Microarray	18185580
MIRT019806	hsa-miR-375	Microarray	20215506
MIRT1415105	hsa-miR-106a	CLIP-seq
MIRT1415106	hsa-miR-106b	CLIP-seq
MIRT1415107	hsa-miR-122	CLIP-seq
MIRT1415108	hsa-miR-130a	CLIP-seq
MIRT1415109	hsa-miR-130b	CLIP-seq
MIRT1415110	hsa-miR-17	CLIP-seq
MIRT1415111	hsa-miR-20a	CLIP-seq
MIRT1415112	hsa-miR-20b	CLIP-seq
MIRT1415113	hsa-miR-2467-5p	CLIP-seq
MIRT1415114	hsa-miR-301a	CLIP-seq
MIRT1415115	hsa-miR-301b	CLIP-seq
MIRT1415116	hsa-miR-3064-3p	CLIP-seq
MIRT1415117	hsa-miR-3135b	CLIP-seq
MIRT1415118	hsa-miR-3153	CLIP-seq
MIRT1415119	hsa-miR-3188	CLIP-seq
MIRT1415120	hsa-miR-3652	CLIP-seq
MIRT1415121	hsa-miR-3666	CLIP-seq
MIRT1415122	hsa-miR-3919	CLIP-seq
MIRT1415123	hsa-miR-3975	CLIP-seq
MIRT1415124	hsa-miR-4295	CLIP-seq
MIRT1415125	hsa-miR-4316	CLIP-seq
MIRT1415126	hsa-miR-4430	CLIP-seq
MIRT1415127	hsa-miR-454	CLIP-seq
MIRT1415128	hsa-miR-4668-5p	CLIP-seq
MIRT1415129	hsa-miR-4756-3p	CLIP-seq
MIRT1415130	hsa-miR-485-5p	CLIP-seq
MIRT1415131	hsa-miR-515-5p	CLIP-seq
MIRT1415132	hsa-miR-519a	CLIP-seq
MIRT1415133	hsa-miR-519b-3p	CLIP-seq
MIRT1415134	hsa-miR-519c-3p	CLIP-seq
MIRT1415135	hsa-miR-519d	CLIP-seq
MIRT1415136	hsa-miR-93	CLIP-seq
MIRT2124541	hsa-miR-1244	CLIP-seq
MIRT2124542	hsa-miR-1302	CLIP-seq
MIRT1415116	hsa-miR-3064-3p	CLIP-seq
MIRT2124543	hsa-miR-3122	CLIP-seq
MIRT2124544	hsa-miR-3199	CLIP-seq
MIRT2124545	hsa-miR-3913-5p	CLIP-seq
MIRT2124546	hsa-miR-4259	CLIP-seq
MIRT2124547	hsa-miR-4298	CLIP-seq
MIRT2124548	hsa-miR-4420	CLIP-seq
MIRT2124549	hsa-miR-4425	CLIP-seq
MIRT2124550	hsa-miR-4703-3p	CLIP-seq
MIRT2124551	hsa-miR-4715-5p	CLIP-seq
MIRT2124552	hsa-miR-4760-3p	CLIP-seq
MIRT2124553	hsa-miR-562	CLIP-seq
MIRT1415107	hsa-miR-122	CLIP-seq
MIRT2124541	hsa-miR-1244	CLIP-seq
MIRT2124542	hsa-miR-1302	CLIP-seq
MIRT1415108	hsa-miR-130a	CLIP-seq
MIRT1415109	hsa-miR-130b	CLIP-seq
MIRT2346808	hsa-miR-1972	CLIP-seq
MIRT2346809	hsa-miR-2113	CLIP-seq
MIRT1415114	hsa-miR-301a	CLIP-seq
MIRT1415115	hsa-miR-301b	CLIP-seq
MIRT1415116	hsa-miR-3064-3p	CLIP-seq
MIRT2124543	hsa-miR-3122	CLIP-seq
MIRT1415117	hsa-miR-3135b	CLIP-seq
MIRT2346810	hsa-miR-3155	CLIP-seq
MIRT2346811	hsa-miR-3155b	CLIP-seq
MIRT2124544	hsa-miR-3199	CLIP-seq
MIRT2346812	hsa-miR-3622a-5p	CLIP-seq
MIRT1415120	hsa-miR-3652	CLIP-seq
MIRT1415121	hsa-miR-3666	CLIP-seq
MIRT2124545	hsa-miR-3913-5p	CLIP-seq
MIRT2124546	hsa-miR-4259	CLIP-seq
MIRT1415124	hsa-miR-4295	CLIP-seq
MIRT2124547	hsa-miR-4298	CLIP-seq
MIRT2346813	hsa-miR-4423-3p	CLIP-seq
MIRT2124549	hsa-miR-4425	CLIP-seq
MIRT1415126	hsa-miR-4430	CLIP-seq
MIRT1415127	hsa-miR-454	CLIP-seq
MIRT2124550	hsa-miR-4703-3p	CLIP-seq
MIRT2124551	hsa-miR-4715-5p	CLIP-seq
MIRT2346814	hsa-miR-4717-5p	CLIP-seq
MIRT2346815	hsa-miR-4735-5p	CLIP-seq
MIRT2346816	hsa-miR-4775	CLIP-seq
MIRT2346817	hsa-miR-484	CLIP-seq
MIRT2124553	hsa-miR-562	CLIP-seq
MIRT2346818	hsa-miR-590-3p	CLIP-seq
MIRT2346819	hsa-miR-599	CLIP-seq
MIRT2124541	hsa-miR-1244	CLIP-seq
MIRT2395567	hsa-miR-1285	CLIP-seq
MIRT2124542	hsa-miR-1302	CLIP-seq
MIRT2395568	hsa-miR-2054	CLIP-seq
MIRT2124543	hsa-miR-3122	CLIP-seq
MIRT2395569	hsa-miR-3187-5p	CLIP-seq
MIRT2124544	hsa-miR-3199	CLIP-seq
MIRT2395570	hsa-miR-374c	CLIP-seq
MIRT2395571	hsa-miR-378g	CLIP-seq
MIRT2124545	hsa-miR-3913-5p	CLIP-seq
MIRT2124546	hsa-miR-4259	CLIP-seq
MIRT2124547	hsa-miR-4298	CLIP-seq
MIRT2124549	hsa-miR-4425	CLIP-seq
MIRT2395572	hsa-miR-4468	CLIP-seq
MIRT2395573	hsa-miR-4486	CLIP-seq
MIRT2124550	hsa-miR-4703-3p	CLIP-seq
MIRT2124551	hsa-miR-4715-5p	CLIP-seq
MIRT2124553	hsa-miR-562	CLIP-seq
MIRT2395574	hsa-miR-612	CLIP-seq
MIRT2395575	hsa-miR-655	CLIP-seq
MIRT2466210	hsa-miR-4773	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001707	Process	Mesoderm formation	IBA
GO:0001708	Process	Cell fate specification	IBA
GO:0003007	Process	Heart morphogenesis	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9888994
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9888994
GO:0021983	Process	Pituitary gland development	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
604614	11596	ENSG00000143178

O60806

Protein name

T-box transcription factor TBX19 (T-box protein 19) (T-box factor, pituitary)

Protein function

Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00907	T-box	43 → 218	T-box	Domain

Sequence

MAMSELGTRKPSDGTVSHLLNVVESELQAGREKGDPTEKQLQIILEDAPLWQRFKEVTNE
MIVTKNGRRMFPVLKISVTGLDPNAMYSLLLDFVPTDSHRWKYVNGEWVPAGKPEVSSHS
CVYIHPDSPNFGAHWMKAPISFSKVKLTNKLNGGGQIMLNSLHKYEPQVHIVRVGSAHRM
VTNCSFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERNHLRDVPEAISESQHVTY
SHLGGWIFSNPDGVCTAGNSNYQYAAPLPLPAPHTHHGCEHYSGLRGHRQAPYPSAYMHR
NHSPSVNLIESSSNNLQVFSGPDSWTSLSSTPHASILSVPHTNGPINPGPSPYPCLWTIS
NGAGGPSGPGPEVHASTPGAFLLGNPAVTSPPSVLSTQAPTSAGVEVLGEPSLTSIAVST
WTAVASHPFAGWGGPGAGGHHSPSSLDG

Sequence length

448

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital isolated adrenocorticotropic hormone deficiency	Likely pathogenic; Pathogenic	rs1310982370, rs930801019, rs1649150256, rs74315376, rs74315377, rs74315378, rs730880274, rs1558193255, rs200197424, rs2525836300, rs2525836270, rs1553289042, rs763818059, rs1558190339, rs1558192351, rs140528998, rs748717639 View all (2 more)	RCV001698778 RCV002221978 RCV002250988 RCV000005773 RCV000005774 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TBX19-related disorder	Pathogenic	rs730880274	RCV003415661	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenal insufficiency	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ISOLATED ACTH DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUODENITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROENTERITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acromegaly	Acromegaly	Pubtator	28865461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ACTH Deficiency, Isolated	ACTH Deficiency	UNIPROT_DG	11290323		★★★★★ ★☆☆☆☆ Found in Text Mining only
ACTH Deficiency, Isolated	ACTH Deficiency	BEFREE	15476446, 15613420, 17652218, 22170728, 29858850, 30747411		★★★★★ ★☆☆☆☆ Found in Text Mining only
ACTH Deficiency, Isolated	ACTH Deficiency	ORPHANET_DG	15476446, 15613420		★★★★★ ★☆☆☆☆ Found in Text Mining only
ACTH Deficiency, Isolated	ACTH Deficiency	GENOMICS_ENGLAND_DG	15525497, 22170728		★★★★★ ★☆☆☆☆ Found in Text Mining only
ACTH Deficiency, Isolated	ACTH Deficiency	CTD_human_DG	16390921		★★★★★ ★☆☆☆☆ Found in Text Mining only
ACTH Deficiency, Isolated	ACTH Deficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	16483181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16483181, 17089045, 23778486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	29858850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	ORPHANET_DG	15476446, 15613420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	BEFREE	22013103, 30086867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocorticotropin deficient adrenal insufficiency	Adrenocorticotropin deficient adrenal insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23778486, 29199261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate with Ankyloglossia	Cleft Palate With Ankyloglossia	BEFREE	12668595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	29199261	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29199261	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	22013103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital isolated ACTH deficiency	Congenital Isolated ACTH Deficiency	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing Syndrome	Cushing syndrome	Pubtator	33071973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	17585962		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin disease	Pubtator	34807923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemic seizures	Hypoglycemic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29199261	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	17585962		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal hypoglycemia	Hypoglycemia	BEFREE	29858850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	31223310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	28865461, 33071973, 38443009, 39982832, 40129213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary Adrenal Insufficiency	Adrenal Insufficiency	BEFREE	30086867		★★★★★ ★☆☆☆☆ Found in Text Mining only

TBX19 (T-box transcription factor 19)