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GTF2I Gene

protein-coding GIFtS: 60

GC07P073709

general transcription factor II, i
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: WBSCR6)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
BAP-135 ^¹, ², ³
BAP135 ^², ³, ⁵
BTKAP1 ^¹, ²
DIWS ^¹, ²
FLJ38776 ^²
FLJ56355 ^²
GTFII-I ^³
IB291 ^¹, ²
SPIN ^¹, ², ³
TFII-I ^¹, ², ³
WBS ^², ⁵
WBSCR6 ^², ³

Descriptions
BTK-associated protein 135 ^³
BTK-associated protein, 135kD ^²
Bruton tyrosine kinase-associated protein 135 ^², ³
SRF-Phox1-interacting protein ^³
Williams-Beuren syndrome chromosomal region 6 protein ^³
Williams-Beuren syndrome chromosome region 6 ^²
general transcription factor II, i ^²

External Ids
HGNC: 4659¹
Entrez Gene: 2969²
UniProtKB: P78347³
Ensembl: ENSG00000077809⁷

Search outside databases for aliases for GTF2I gene

Previous GC identifers: GC07P072712 GC07P073470 GC07P073484 GC07P073516

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for GTF2I:

This gene encodes a multifunctional phosphoprotein with roles in transcription and signal

transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder

caused by the deletion of contiguous genes at chromosome 7q11.23. Four transcript variants

encoding different isoforms have been found for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: GTF2I_HUMAN, P78347

Function: Interacts with the basal transcription machinery by coordinating the formation of a

multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator

complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts

cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by

the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently

two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the

formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin

heavy-chain transcription upon B-lymphocyte activation

Gene Wiki entry for GTF2I

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the GTF2I gene

Entrez Gene cytogenetic band: 7q11.23 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11.23

GTF2I Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P073709: (about GC identifiers)

Start:	73,709,966 bp from pter
End:	73,812,958 bp from pter
Size:	102,993 bases
Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 73,405,102-73,508,086

RefSeq DNA sequence:

NC_000007.12 NT_007758.11 NT_079593.2

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: GTF2I_HUMAN, P78347 (See protein sequence)

Recommended Name: General transcription factor II-I

Size: 998 amino acids; 112416 Da

Subunit: Homodimer (Potential). Interacts with SRF and PHOX1. Binds a pyrimidine-rich initiator

(Inr) and a recognition site (E-box) for upstream stimulatory factor 1 (USF1). Associates with the

PH domain of Bruton's tyrosine kinase (BTK). May be a component of a BHC histone deacetylase

complex that contains HDAC1, HDAC2, HMG20B/BRAF35, AOF2/LSD1, RCOR1/CoREST, PHF21A/BHC80, ZMYM2,

ZNF217, ZMYM3, GSE1 and GTF2I. Interacts with BTK and ARID3A

Subcellular location: Cytoplasm. Nucleus. Note=Colocalizes with BTK in the cytoplasm

PDB structures from and Proteopedia :

2D9B (3D)

2DN4 (3D)

2ED2 (3D)

2EJE (3D)

Secondary accessions: O14743 O15359 O43546 O43588 O43589 Q75M85 Q75M86 Q75M87 Q75M88 Q9BSZ4

Alternative splicing: 4 isoforms: P78347-1 P78347-2 P78347-3 P78347-4

Post-translational modifications:

Transiently phosphorylated on tyrosine residues by BTK in response to B-cell receptor stimulation.

Phosphorylation on Tyr-248 and Tyr-398, and perhaps, on Tyr-503 contributes to BTK-mediated

transcriptional activation¹

Sumoylated¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (4 alternative transcripts):

NP_001509.3 NP_127492.1 NP_127493.1 NP_127494.1

ENSEMBL proteins:

ENSP00000322542 ENSP00000322671 ENSP00000322599

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (TFII I)
	Human Recombinant Proteins from Abnova (GTF2I)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--

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Antibodies for GTF2I:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for GTF2I
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (TFII I), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (GTF2I)
	Novus Biologicals Antibodies for GTF2I

Assays for GTF2I:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P78347

ProtoNet protein and cluster: P78347

1 Blocks protein family: IPB004212 GTF2I-like repeat

UniProtKB/Swiss-Prot: GTF2I_HUMAN, P78347

Similarity: Belongs to the TFII-I family

Similarity: Contains 6 GTF2I-like repeats

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GTF2I)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GTF2I)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_001518

Applied Biosystems Silencer® siRNAs for GTF2I

Sigma-Aldrich siRNA for GTF2I

Sigma-Aldrich shRNA for GTF2I

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for GTF2I
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001518
Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001518
untagged cDNA clones in CMV expression vector (see all 4): NM_001518

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_032999

UniProtKB/Swiss-Prot: GTF2I_HUMAN, P78347

Function: Interacts with the basal transcription machinery by coordinating the formation of a

multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator

complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts

cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by

the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently

two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the

formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin

heavy-chain transcription upon B-lymphocyte activation

Genatlas biochemistry entry for GTF2I:

general transcription factor 2I,interacting with USF1 deleted in Williams-Beuren syndrome,also gene

encoding to BAP135 (see symbol)

6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Gtf2i):

	craniofacial	embryogenesis	growth/size	lethality-prenatal/perinatal
nervous system

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	transcription factor activity	NAS	9334314
GO:0005515	protein binding	IPI	9012831 15231747 17353931
GO:0016251	general RNA polymerase II transcription factor activity	TAS	9334314

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for GTF2I

5/36 Interacting proteins for GTF2I (ENSP00000322542³ P78347^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 36 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BTK	Q06187¹	STRING (score=.999) EBI-359622, EBI-624835
LSM8	O95777¹	EBI-359622, EBI-347779
PTP4A3	O75365¹	EBI-359622, EBI-1043866
Btk Btk (xeno)	P35991¹	EBI-359622, EBI-625119
NFKB2	Q00653²	MINT-47918 MINT-48759

About this table

4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006350	transcription	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	9334314
GO:0007165	signal transduction	TAS	9012831

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for GTF2I
5 Novoseek chemical compound relationships for GTF2I gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	41.58	31	9837922 (5), 9012831 (3), 11313464 (3), 15664986 (2) (see all 14)
leucine	37.22	4	16166082 (2), 11113127 (1), 11827466 (1)
pd 98,059	33.42	2	10648599 (1)
oligonucleotide	16.15	4	8530424 (1), 19205026 (1)
calcium	0.00	3	17023658 (2), 19214191 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GTF2I)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GTF2I)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_001518

Sigma-Aldrich siRNA for GTF2I

Sigma-Aldrich shRNA for GTF2I

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001518 NM_032999 NM_033000 NM_033001

REFSEQ mRNAs for GTF2I gene (4 alternative transcripts):

NM_001518.3 NM_032999.2 NM_033000.2 NM_033001.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001518 NM_032999 NM_033000 NM_033001

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001518
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001518
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_001518

Additional cDNA sequence:

AF015553.1 AF035737.1 AF038967.1 AF038968.1 AF038969.1 AK057670.1 AK093663.1 AK096095.1

AK292832.1 AK294935.1 AK297238.1 BC004472.2 BC070484.1 BC099907.1 BT007450.1 CR599201.1

DQ786291.1 U77948.1 Y14946.1

24/94 DOTS entries (see all 94 ):

DT.102840659 DT.97862785 DT.100878365 DT.121128434 DT.100034374 DT.95142663 DT.100878347 DT.91643555

DT.100735597 DT.100878366 DT.91697114 DT.95247361 DT.100878356 DT.121644029 DT.121116936 DT.100878360

DT.121116851 DT.91660038 DT.102840662 DT.91786079 DT.121644000 DT.95142571 DT.92469839 DT.97864816

24/531 AceView cDNA sequences (see all 531 ):

AW058661 CK824809 AI362250 BM541271 BE350326 AW188766 BE464623 BU902886

CA396169 BF934310 AI458641 CB112847 AW173530 CB126839 CA413391 AI290117

BE839770 AI538729 BM755438 F08764 BM796064 BE839784 BF934458 CB111218

highest scoring ESTs for GTF2I:

U77948 AA115919 AA703355 AA741448 AA774268 AF015553 AF035737 AF038967 AF038968 AF038969

Unigene Cluster for GTF2I:

General transcription factor II, i

Hs.647041 [show with all ESTs]

Unigene Representative Sequence: NM_032999

GeneLoc Exon Structure

5/27 Alternative Splicing Database (ASD) splice patterns (SP) for GTF2I (see all 27 )

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10	^	11	^	12a	·	12b	·	12c	^	13	^	14	^	15	^	16	^	17a	·	17b	^	18	^	19a	·
SP1:									-																						-				-				-
SP2:									-																						-				-		-		-
SP3:									-																						-				-		-		-
SP4:									-																				-		-				-				-
SP5:									-																				-		-				-		-		-

ExUns:	19b	^	20a	·	20b	·	20c	^	21	^	22	^	23	^	24	^	25	^	26a	·	26b	·	26c	^	27a	·	27b	^	28a	·	28b	·	28c	^	29a	·	29b	^	30	^	31	^	32	^	33	^	34a	·	34b	^	35a	·
SP1:											-				-		-		-								-																				-
SP2:											-				-		-		-								-																				-
SP3:											-				-		-		-								-																				-
SP4:											-				-		-		-								-																				-
SP5:											-				-		-		-								-																				-

ExUns:	35b	·	35c	^	36a	·	36b	^	37a	·	37b	^	38	^	39	^	40a	·	40b	·	40c	·	40d	·	40e	·	40f	^	41	^	42a	·	42b	·	42c	·	42d
SP1:	-		-		-				-				-								-		-		-		-
SP2:	-		-		-				-				-								-		-		-		-
SP3:	-		-		-				-				-								-		-		-		-
SP4:	-		-		-				-				-								-		-		-		-
SP5:	-		-		-				-				-								-		-		-		-

About this scheme

ECgene alternative splicing isoforms for GTF2I

3 Ensembl transcripts including schematic representations:

ENST00000324896 ENST00000353920 ENST00000346152

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

GTF2I expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for GTF2I

¹ / ² / ³

9 probe-sets matching GTF2I gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
35450_s_at²^{, 3}	U95-A	2	1.00	0.50	0.86	1.09	U77948	1.00	0.77	0.89	1
466_at²^{, 3}	U95-A	2	1.00	0.50	0.99	0.87	U77948	1.00	0.77	0.89	1
74237_f_at²^{, 3}	U95-D	2	0.69	0.50	0.98	1.05	AI989432	0.20	0.50	0.38	1
210892_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BC004472	0.60	0.83	0.73	1
210891_s_at²^{, 3}	U133-A	2	1.00	0.50	--	--	AF035737	0.80	0.88	0.84	1
201065_s_at²^{, 3}	U133-A	2	1.00	0.50	--	--	NM_001518	0.60	0.83	0.73	1
210892_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210891_s_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--
201065_s_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CCTTTCACAC

SOURCE GeneReport for Unigene cluster: Hs.647041
Expression variation in blood from EXPOLDB for GTF2I
UniProtKB/Swiss-Prot: GTF2I_HUMAN, P78347
Tissue specificity: Ubiquitous. Isoform 1 is strongly expressed in fetal brain, weakly in adult
brain, muscle, and lymphoblasts and is almost undetectable in other adult tissues, while the other
isoforms are equally expressed in all adult tissues

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for GTF2I gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	GTF2I¹	--	general transcription factor II, i	92.06(n) 98.77(a)	479714 XM_851402.1 XP_856495.1
chimpanzee (Pan troglodytes)	GTF2I¹	--	general transcription factor II, i	98.7(n) 98.88(a)	450163 XM_001151693.1 XP_001151693.1
cow (Bos taurus)	GTF2I¹	--	general transcription factor II, i	92.16(n) 97.96(a)	534669 XM_868667.2 XP_873760.1
rat (Rattus norvegicus)	Gtf2i¹	--	general transcription factor II I	86.73(n) 96.93(a)	353256 NM_001001512.2 NP_001001512.2
mouse (Mus musculus)	Gtf2i^{1, 5}	5 (75.00 cM)⁵	general transcription factor II I^{1, 5}	87.7(n)¹ 97.44(a)¹	14886¹ NM_010365.2¹ NP_034495.2¹ AF017085⁵ AF043219⁵ (see all 33)

About this table Species with no ortholog for GTF2I

ENSEMBL Gene Tree for GTF2I

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for GTF2I gene

ENSG00000187721² GTF2IRD1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/308 NCBI SNPs in GTF2I are shown (see all 308 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 46)

AB	SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
--	rs1057896^1,2	F	73752659(+)	`GGATTT/GTGGAG`	4	V/L	mis¹ ese³		1	MN	184
--	rs1064765^1,2	F	73752566(+)	`TGCTGC/AGAGAC`	4	R/R	syn¹ ese³		1	MN	184
	rs2718279^1,2	A,C,F,H,O	73776876(+)	`AAATTC/GATGAA`	4	--	int¹		11	EU EA WA NA	976
	rs2718277^1,2	A,C,F,H,O	73771865(+)	`CATTGC/TGTTTT`	4	--	int¹		11	EU EA WA NA	970
	rs2527380^1,2	A,C,F,H	73742642(+)	`CTCTGC/TAACAT`	4	--	int¹		7	EU EA WA NA	526
--	rs6967152^1,2	A,C,F,H	73737253(+)	`actacC/Tttctg`	4	--	int¹		7	EU EA WA NA	558
	rs2527366^1,2	A,C,F,H	73736885(+)	`GGGATA/GGGCAA`	4	--	int¹		8	EA NA EU WA	622
	rs12672029^1,2	A,C,F,H	73760656(+)	`TTTTTT/AAGGAA`	4	--	int¹		12	EU EA WA NA	1046
	rs6460090^1,2	A,C,F,H	73773780(+)	`CACACA/GCACat`	4	--	int¹		4	EU EA WA	390
	rs2527367^1,2	A,C,F,H	73737074(+)	`TGTAGT/CGTCTG`	4	--	int¹		6	EU EA WA NA	598

About this table

HapMap Linkage Disequilibrium images for GTF2I (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 601679

UniProtKB/Swiss-Prot: GTF2I_HUMAN, P78347

Haploinsufficiency of GTF2I may be the cause of certain cardiovascular and

musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS), a rare developmental

disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23

4 Novoseek disease relationships for GTF2I gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
williams syndrome	88.84	11	9521869 (2), 14751286 (2), 15100712 (1), 18326499 (1) (see all 8)
genetic disorder	22.59	1	11674993 (1)
mental retardation	19.43	3	17270452 (1), 12493763 (1)
cognitive deficit	16.13	1	17270452 (1)

About this table

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/108 PubMed articles for GTF2I gene (see all 108 ):

BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. (PubMed id 9012831)^{1, 2, 3, 4} Yang W. and Desiderio S. (1997)
A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: identity to TFII-I. (PubMed id 9334314)^{2, 3, 4} Grueneberg D.A.... Gilman M. (1997)
Induction of immunoglobulin heavy-chain transcription through the transcription factor Bright requires TFII-I. (PubMed id 16738337)^{1, 3, 4} Rajaiya J....Webb C.F. (2006)
Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1. (PubMed id 9384587)^{1, 3, 4} Roy A.L.... Roeder R.G. (1997)
A duplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. (PubMed id 9466987)^{1, 3, 4} Perez Jurado L.A....Francke U. (1998)
A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{3, 4} Beausoleil S.A.... Gygi S.P. (2006)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{3, 4} Olsen J.V....Mann M. (2006)
Systematic identification and analysis of mammalian small ubiquitin- like modifier substrates. (PubMed id 15561718)^{3, 4} Gocke C.B.... Kang J. (2005)
Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)^{3, 4} Beausoleil S.A....Gygi S.P. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 2969	HGNC: 4659	AceView: GTF2I	Ensembl:ENSG00000077809	euGenes: HUgn2969
ECgene: GTF2I	H-InvDB: GTF2I

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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Licensable Technologies for GTF2I
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GTF2I Gene

protein-coding GIFtS: 60

Aliases &
Descriptions
for GTF2I

Summaries
for GTF2I

Genomic Location
for GTF2I

Proteins
for GTF2I

Protein Domains/
Families
for GTF2I

Gene Function
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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

GTF2I (Gene Symbol)
BAP-135
BAP135
BTKAP1
DIWS
FLJ38776
FLJ56355
GTFII-I
IB291
SPIN
TFII-I
WBS
WBSCR6
BTK-associated protein 135
BTK-associated protein, 135kD
Bruton tyrosine kinase-associated protein 135
SRF-Phox1-interacting protein
Williams-Beuren syndrome chromosomal region 6 protein
Williams-Beuren syndrome chromosome region 6
general transcription factor II, i

GTF2I Gene

protein-coding GIFtS: 60

Aliases & Descriptionsfor GTF2I

Summariesfor GTF2I

Genomic Locationfor GTF2I

Proteinsfor GTF2I

Protein Domains/Familiesfor GTF2I

Gene Functionfor GTF2I

Pathways & Interactionsfor GTF2I

Drugs & Compoundsfor GTF2I

Transcriptsfor GTF2I

Expression for GTF2I

Orthologsfor GTF2I

Paralogsfor GTF2I

SNPs/Variantsfor GTF2I

Disorders & Mutationsfor GTF2I

Medical Newsfor GTF2I

Publicationsfor GTF2I

Search for GTF2I

Genome Databases showing GTF2I

Other Databases showing GTF2I

Specialized Databases showing GTF2I

Licensable Technologiesfor GTF2I

Servicesfor GTF2I

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for GTF2I

Summaries
for GTF2I

Genomic Location
for GTF2I

Proteins
for GTF2I

Protein Domains/
Families
for GTF2I

Gene Function
for GTF2I

Pathways & Interactions
for GTF2I

Drugs & Compounds
for GTF2I

Transcripts
for GTF2I

Expression
for GTF2I

Orthologs
for GTF2I

Paralogs
for GTF2I

SNPs/Variants
for GTF2I

Disorders & Mutations
for GTF2I

Medical News
for GTF2I

Publications
for GTF2I

Licensable Technologies
for GTF2I

Services
for GTF2I