P15884 (ITF2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transcription factor 4
Short name=TCF-4

Alternative name(s):
Class B basic helix-loop-helix protein 19
Short name=bHLHb19
Immunoglobulin transcription factor 2
Short name=ITF-2
SL3-3 enhancer factor 2
Short name=SEF-2

Gene names

Name:	TCF4
Synonyms:	BHLHB19, ITF2, SEF2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	667 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription By similarity. Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'.
Subunit structure	Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers with myogenin. Interacts with HIVEP2. Interacts with NEUROD2 By similarity. The CTNNB1 and TCF4 complex interacts with PML (isoform PML-4). Ref.13
Subcellular location	Nucleus Probable.
Tissue specificity	Expressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung. In developing embryonic tissues, expression mostly occurs in the brain.
Domain	the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. Ref.11
Involvement in disease	Pitt-Hopkins syndrome (PTHS) [MIM:610954]: A syndrome characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14 Ref.15 Ref.16 Ref.17 Ref.18
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.
Sequence caution	The sequence AAA60310.1 differs from that shown. Reason: Incomplete and probable erroneous sequence. The sequence AAA60312.1 differs from that shown. Reason: Incomplete and probable erroneous sequence.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Epilepsy Mental retardation Primary microcephaly
Ligand	DNA-binding
Molecular function	Activator
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara positive regulation of neuron differentiation Inferred from sequence or structural similarity. Source: UniProtKB protein-DNA complex assembly Inferred from sequence or structural similarity PubMed 8978694. Source: BHF-UCL transcription initiation from RNA polymerase II promoter Inferred from sequence or structural similarity PubMed 8978694. Source: BHF-UCL
Cellular_component	transcription factor complex Inferred from sequence or structural similarity PubMed 8978694. Source: BHF-UCL
Molecular_function	E-box binding Inferred from sequence or structural similarity. Source: UniProtKB RNA polymerase II core promoter proximal region sequence-specific DNA binding Inferred from sequence or structural similarity PubMed 8978694. Source: BHF-UCL RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Inferred from sequence or structural similarity PubMed 8978694. Source: BHF-UCL TFIIB-class binding transcription factor activity Inferred from sequence or structural similarity PubMed 8978694. Source: BHF-UCL TFIIB-class transcription factor binding Inferred from sequence or structural similarity PubMed 8978694. Source: BHF-UCL protein heterodimerization activity Inferred from sequence or structural similarity. Source: UniProtKB sequence-specific DNA binding RNA polymerase recruiting transcription factor activity Inferred from sequence or structural similarity PubMed 8978694. Source: BHF-UCL transcription corepressor activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ASCL1	P50553	7	EBI-533224,EBI-957042
CTNNB1	P35222	9	EBI-533224,EBI-491549

Alternative products

This entry describes 11 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform SEF2-1B (identifier: P15884-1)

Also known as: B-;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform SEF2-1A (identifier: P15884-2)

Also known as: A+;

The sequence of this isoform differs from the canonical sequence as follows:
     1-160: Missing.
     161-183: LHSSAMEVQTKKVRKVPPGLPSS → MYCAYTIPGMGGNSLMYYYNGKA
     545-545: T → TRSRS

Isoform SEF2-1D (identifier: P15884-3)

Also known as: B+;

The sequence of this isoform differs from the canonical sequence as follows:
     545-545: T → TRSRS

Isoform B+delta (identifier: P15884-4)

The sequence of this isoform differs from the canonical sequence as follows:
     124-183: Missing.
     545-545: T → TRSRS

Isoform B-delta (identifier: P15884-5)

The sequence of this isoform differs from the canonical sequence as follows:
     124-183: Missing.

Isoform A- (identifier: P15884-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MHHQQRMAALGTDKELSDLLDFS → MYCAYTIPGMGGNSLMYYYNGKA
     24-123: Missing.
     124-183: Missing.

Isoform G- (identifier: P15884-7)

The sequence of this isoform differs from the canonical sequence as follows:
     1-32: MHHQQRMAALGTDKELSDLLDFSAMFSPPVSS → MKDIFFQFIIARVRKCYSLSCLHTLPVVPTLR
     33-102: Missing.
     123-123: Missing.

Isoform H- (identifier: P15884-8)

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MHHQQRMAALGTDKELSDLLDFS → MKFKQCRCSDTGLCCLDHEGKAE
     24-123: Missing.

Isoform D- (identifier: P15884-9)

The sequence of this isoform differs from the canonical sequence as follows:
     1-130: Missing.

Isoform F- (identifier: P15884-10)

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSN → MEEDSRD

Isoform 11 (identifier: P15884-11)

The sequence of this isoform differs from the canonical sequence as follows:
     1-102: MHHQQRMAAL...PPFVNSRIQS → MKDIFFQFIIARVRKCYSLSCLHTLPVVPTLR
     123-123: Missing.
     545-545: T → TRSRS

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 667

667

Transcription factor 4

PRO_0000127256

Regions

Domain

564 – 617

54

bHLH

Region

1 – 83

83

Essential for MYOD1 inhibition By similarity

Region

379 – 400

22

Leucine-zipper

Region

619 – 642

24

Class A specific domain

Motif

18 – 26

9

9aaTAD

Compositional bias

228 – 231

4

Poly-Ser

Amino acid modifications

Modified residue

515

1

Phosphoserine Ref.12

Natural variations

Alternative sequence

1 – 160

160

Missing in isoform SEF2-1A.

VSP_030819

Alternative sequence

1 – 130

130

Missing in isoform D-.

VSP_045149

Alternative sequence

1 – 102

102

MHHQQ…SRIQS → MKDIFFQFIIARVRKCYSLS CLHTLPVVPTLR in isoform 11.

VSP_045150

Alternative sequence

1 – 49

49

MHHQQ…FTGSN → MEEDSRD in isoform F-.

VSP_045151

Alternative sequence

1 – 32

32

MHHQQ…PPVSS → MKDIFFQFIIARVRKCYSLS CLHTLPVVPTLR in isoform G-.

VSP_044334

Alternative sequence

1 – 23

23

MHHQQ…LLDFS → MYCAYTIPGMGGNSLMYYYN GKA in isoform A-.

VSP_044336

Alternative sequence

1 – 23

23

MHHQQ…LLDFS → MKFKQCRCSDTGLCCLDHEG KAE in isoform H-.

VSP_044335

Alternative sequence

24 – 123

100

Missing in isoform A- and isoform H-.

VSP_044337

Alternative sequence

33 – 102

70

Missing in isoform G-.

VSP_044338

Alternative sequence

123

1

Missing in isoform G- and isoform 11.

VSP_044339

Alternative sequence

124 – 183

60

Missing in isoform A-, isoform B-delta and isoform B+delta.

VSP_044340

Alternative sequence

161 – 183

23

LHSSA…GLPSS → MYCAYTIPGMGGNSLMYYYN GKA in isoform SEF2-1A.

VSP_002111

Alternative sequence

545

1

T → TRSRS in isoform B+delta, isoform SEF2-1A, isoform SEF2-1D and isoform 11.

VSP_002112

Natural variant

358

1

G → V in PTHS. Ref.16

VAR_066839

Natural variant

450

1

M → I.
Corresponds to variant rs11660217 [ dbSNP | Ensembl ].

VAR_049545

Natural variant

535

1

D → G in PTHS; loss of function. Ref.17

VAR_058632

Natural variant

565

1

R → W in PTHS. Ref.18

VAR_066970

Natural variant

572

1

R → G in PTHS; loss of function. Ref.17 Ref.18

VAR_058633

Natural variant

572

1

R → Q in PTHS. Ref.18

VAR_066971

Natural variant

574

1

R → H in PTHS. Ref.18

VAR_066972

Natural variant

574

1

R → P in PTHS. Ref.16 Ref.18

VAR_066840

Natural variant

576

1

R → Q in PTHS; loss of function. Ref.14 Ref.17 Ref.18

VAR_034704

Natural variant

576

1

R → W in PTHS. Ref.14 Ref.15 Ref.18

VAR_034705

Natural variant

578

1

R → H in PTHS. Ref.16

VAR_066841

Natural variant

578

1

R → P in PTHS. Ref.18

VAR_066973

Natural variant

583

1

A → P in PTHS. Ref.18

VAR_066974

Natural variant

610

1

A → V in PTHS; loss of function. Ref.17 Ref.18

VAR_058634

Experimental info

Sequence conflict

46 – 49

4

TGSN → EFGG in CAA36298. Ref.9

Sequence conflict

205

1

Missing in AV761952. Ref.7

Sequence conflict

334

1

P → S in CAA36298. Ref.9

Secondary structure

1

.

.

.

667

Helix Strand Turn

Details...

Helix

15 – 25

11

Sequences

	Sequence		Length	Mass (Da)
	Isoform SEF2-1B (B-) [UniParc]. Last modified December 15, 1998. Version 3. Checksum: 53459FC7989D9487	FASTA	667	71,308
	10 20 30 40 50 60 MHHQQRMAAL GTDKELSDLL DFSAMFSPPV SSGKNGPTSL ASGHFTGSNV EDRSSSGSWG 70 80 90 100 110 120 NGGHPSPSRN YGDGTPYDHM TSRDLGSHDN LSPPFVNSRI QSKTERGSYS SYGRESNLQG 130 140 150 160 170 180 CHQQSLLGGD MDMGNPGTLS PTKPGSQYYQ YSSNNPRRRP LHSSAMEVQT KKVRKVPPGL 190 200 210 220 230 240 PSSVYAPSAS TADYNRDSPG YPSSKPATST FPSSFFMQDG HHSSDPWSSS SGMNQPGYAG 250 260 270 280 290 300 MLGNSSHIPQ SSSYCSLHPH ERLSYPSHSS ADINSSLPPM STFHRSGTNH YSTSSCTPPA 310 320 330 340 350 360 NGTDSIMANR GSGAAGSSQT GDALGKALAS IYSPDHTNNS FSSNPSTPVG SPPSLSAGTA 370 380 390 400 410 420 VWSRNGGQAS SSPNYEGPLH SLQSRIEDRL ERLDDAIHVL RNHAVGPSTA MPGGHGDMHG 430 440 450 460 470 480 IIGPSHNGAM GGLGSGYGTG LLSANRHSLM VGTHREDGVA LRGSHSLLPN QVPVPQLPVQ 490 500 510 520 530 540 SATSPDLNPP QDPYRGMPPG LQGQSVSSGS SEIKSDDEGD ENLQDTKSSE DKKLDDDKKD 550 560 570 580 590 600 IKSITSNNDD EDLTPEQKAE REKERRMANN ARERLRVRDI NEAFKELGRM VQLHLKSDKP 610 620 630 640 650 660 QTKLLILHQA VAVILSLEQQ VRERNLNPKA ACLKRREEEK VSSEPPPLSL AGPHPGMGDA SNHMGQM
	Isoform SEF2-1A (A+) [UniParc]. Checksum: 53BE8B2756C9C26B	FASTA	511	54,621
	10 20 30 40 50 60 MYCAYTIPGM GGNSLMYYYN GKAVYAPSAS TADYNRDSPG YPSSKPATST FPSSFFMQDG 70 80 90 100 110 120 HHSSDPWSSS SGMNQPGYAG MLGNSSHIPQ SSSYCSLHPH ERLSYPSHSS ADINSSLPPM 130 140 150 160 170 180 STFHRSGTNH YSTSSCTPPA NGTDSIMANR GSGAAGSSQT GDALGKALAS IYSPDHTNNS 190 200 210 220 230 240 FSSNPSTPVG SPPSLSAGTA VWSRNGGQAS SSPNYEGPLH SLQSRIEDRL ERLDDAIHVL 250 260 270 280 290 300 RNHAVGPSTA MPGGHGDMHG IIGPSHNGAM GGLGSGYGTG LLSANRHSLM VGTHREDGVA 310 320 330 340 350 360 LRGSHSLLPN QVPVPQLPVQ SATSPDLNPP QDPYRGMPPG LQGQSVSSGS SEIKSDDEGD 370 380 390 400 410 420 ENLQDTKSSE DKKLDDDKKD IKSITRSRSS NNDDEDLTPE QKAEREKERR MANNARERLR 430 440 450 460 470 480 VRDINEAFKE LGRMVQLHLK SDKPQTKLLI LHQAVAVILS LEQQVRERNL NPKAACLKRR 490 500 510 EEEKVSSEPP PLSLAGPHPG MGDASNHMGQ M
	Isoform SEF2-1D (B+) [UniParc]. Checksum: 2A3AE4C1E87B81E4	FASTA	671	71,795
	10 20 30 40 50 60 MHHQQRMAAL GTDKELSDLL DFSAMFSPPV SSGKNGPTSL ASGHFTGSNV EDRSSSGSWG 70 80 90 100 110 120 NGGHPSPSRN YGDGTPYDHM TSRDLGSHDN LSPPFVNSRI QSKTERGSYS SYGRESNLQG 130 140 150 160 170 180 CHQQSLLGGD MDMGNPGTLS PTKPGSQYYQ YSSNNPRRRP LHSSAMEVQT KKVRKVPPGL 190 200 210 220 230 240 PSSVYAPSAS TADYNRDSPG YPSSKPATST FPSSFFMQDG HHSSDPWSSS SGMNQPGYAG 250 260 270 280 290 300 MLGNSSHIPQ SSSYCSLHPH ERLSYPSHSS ADINSSLPPM STFHRSGTNH YSTSSCTPPA 310 320 330 340 350 360 NGTDSIMANR GSGAAGSSQT GDALGKALAS IYSPDHTNNS FSSNPSTPVG SPPSLSAGTA 370 380 390 400 410 420 VWSRNGGQAS SSPNYEGPLH SLQSRIEDRL ERLDDAIHVL RNHAVGPSTA MPGGHGDMHG 430 440 450 460 470 480 IIGPSHNGAM GGLGSGYGTG LLSANRHSLM VGTHREDGVA LRGSHSLLPN QVPVPQLPVQ 490 500 510 520 530 540 SATSPDLNPP QDPYRGMPPG LQGQSVSSGS SEIKSDDEGD ENLQDTKSSE DKKLDDDKKD 550 560 570 580 590 600 IKSITRSRSS NNDDEDLTPE QKAEREKERR MANNARERLR VRDINEAFKE LGRMVQLHLK 610 620 630 640 650 660 SDKPQTKLLI LHQAVAVILS LEQQVRERNL NPKAACLKRR EEEKVSSEPP PLSLAGPHPG 670 MGDASNHMGQ M
	Isoform B+delta [UniParc]. Checksum: C9C6986AA5563828	FASTA	611	65,282
	10 20 30 40 50 60 MHHQQRMAAL GTDKELSDLL DFSAMFSPPV SSGKNGPTSL ASGHFTGSNV EDRSSSGSWG 70 80 90 100 110 120 NGGHPSPSRN YGDGTPYDHM TSRDLGSHDN LSPPFVNSRI QSKTERGSYS SYGRESNLQG 130 140 150 160 170 180 CHQVYAPSAS TADYNRDSPG YPSSKPATST FPSSFFMQDG HHSSDPWSSS SGMNQPGYAG 190 200 210 220 230 240 MLGNSSHIPQ SSSYCSLHPH ERLSYPSHSS ADINSSLPPM STFHRSGTNH YSTSSCTPPA 250 260 270 280 290 300 NGTDSIMANR GSGAAGSSQT GDALGKALAS IYSPDHTNNS FSSNPSTPVG SPPSLSAGTA 310 320 330 340 350 360 VWSRNGGQAS SSPNYEGPLH SLQSRIEDRL ERLDDAIHVL RNHAVGPSTA MPGGHGDMHG 370 380 390 400 410 420 IIGPSHNGAM GGLGSGYGTG LLSANRHSLM VGTHREDGVA LRGSHSLLPN QVPVPQLPVQ 430 440 450 460 470 480 SATSPDLNPP QDPYRGMPPG LQGQSVSSGS SEIKSDDEGD ENLQDTKSSE DKKLDDDKKD 490 500 510 520 530 540 IKSITRSRSS NNDDEDLTPE QKAEREKERR MANNARERLR VRDINEAFKE LGRMVQLHLK 550 560 570 580 590 600 SDKPQTKLLI LHQAVAVILS LEQQVRERNL NPKAACLKRR EEEKVSSEPP PLSLAGPHPG 610 MGDASNHMGQ M
	Isoform B-delta [UniParc]. Checksum: AE68260B30C1B9E6	FASTA	607	64,796
	10 20 30 40 50 60 MHHQQRMAAL GTDKELSDLL DFSAMFSPPV SSGKNGPTSL ASGHFTGSNV EDRSSSGSWG 70 80 90 100 110 120 NGGHPSPSRN YGDGTPYDHM TSRDLGSHDN LSPPFVNSRI QSKTERGSYS SYGRESNLQG 130 140 150 160 170 180 CHQVYAPSAS TADYNRDSPG YPSSKPATST FPSSFFMQDG HHSSDPWSSS SGMNQPGYAG 190 200 210 220 230 240 MLGNSSHIPQ SSSYCSLHPH ERLSYPSHSS ADINSSLPPM STFHRSGTNH YSTSSCTPPA 250 260 270 280 290 300 NGTDSIMANR GSGAAGSSQT GDALGKALAS IYSPDHTNNS FSSNPSTPVG SPPSLSAGTA 310 320 330 340 350 360 VWSRNGGQAS SSPNYEGPLH SLQSRIEDRL ERLDDAIHVL RNHAVGPSTA MPGGHGDMHG 370 380 390 400 410 420 IIGPSHNGAM GGLGSGYGTG LLSANRHSLM VGTHREDGVA LRGSHSLLPN QVPVPQLPVQ 430 440 450 460 470 480 SATSPDLNPP QDPYRGMPPG LQGQSVSSGS SEIKSDDEGD ENLQDTKSSE DKKLDDDKKD 490 500 510 520 530 540 IKSITSNNDD EDLTPEQKAE REKERRMANN ARERLRVRDI NEAFKELGRM VQLHLKSDKP 550 560 570 580 590 600 QTKLLILHQA VAVILSLEQQ VRERNLNPKA ACLKRREEEK VSSEPPPLSL AGPHPGMGDA SNHMGQM
	Isoform A- [UniParc]. Checksum: 2DF7DC48C2D3EE83	FASTA	507	54,135
	10 20 30 40 50 60 MYCAYTIPGM GGNSLMYYYN GKAVYAPSAS TADYNRDSPG YPSSKPATST FPSSFFMQDG 70 80 90 100 110 120 HHSSDPWSSS SGMNQPGYAG MLGNSSHIPQ SSSYCSLHPH ERLSYPSHSS ADINSSLPPM 130 140 150 160 170 180 STFHRSGTNH YSTSSCTPPA NGTDSIMANR GSGAAGSSQT GDALGKALAS IYSPDHTNNS 190 200 210 220 230 240 FSSNPSTPVG SPPSLSAGTA VWSRNGGQAS SSPNYEGPLH SLQSRIEDRL ERLDDAIHVL 250 260 270 280 290 300 RNHAVGPSTA MPGGHGDMHG IIGPSHNGAM GGLGSGYGTG LLSANRHSLM VGTHREDGVA 310 320 330 340 350 360 LRGSHSLLPN QVPVPQLPVQ SATSPDLNPP QDPYRGMPPG LQGQSVSSGS SEIKSDDEGD 370 380 390 400 410 420 ENLQDTKSSE DKKLDDDKKD IKSITSNNDD EDLTPEQKAE REKERRMANN ARERLRVRDI 430 440 450 460 470 480 NEAFKELGRM VQLHLKSDKP QTKLLILHQA VAVILSLEQQ VRERNLNPKA ACLKRREEEK 490 500 VSSEPPPLSL AGPHPGMGDA SNHMGQM
	Isoform G- [UniParc]. Checksum: 5912C40D16E30908	FASTA	596	64,116
	10 20 30 40 50 60 MKDIFFQFII ARVRKCYSLS CLHTLPVVPT LRKTERGSYS SYGRESNLQG CHQSLLGGDM 70 80 90 100 110 120 DMGNPGTLSP TKPGSQYYQY SSNNPRRRPL HSSAMEVQTK KVRKVPPGLP SSVYAPSAST 130 140 150 160 170 180 ADYNRDSPGY PSSKPATSTF PSSFFMQDGH HSSDPWSSSS GMNQPGYAGM LGNSSHIPQS 190 200 210 220 230 240 SSYCSLHPHE RLSYPSHSSA DINSSLPPMS TFHRSGTNHY STSSCTPPAN GTDSIMANRG 250 260 270 280 290 300 SGAAGSSQTG DALGKALASI YSPDHTNNSF SSNPSTPVGS PPSLSAGTAV WSRNGGQASS 310 320 330 340 350 360 SPNYEGPLHS LQSRIEDRLE RLDDAIHVLR NHAVGPSTAM PGGHGDMHGI IGPSHNGAMG 370 380 390 400 410 420 GLGSGYGTGL LSANRHSLMV GTHREDGVAL RGSHSLLPNQ VPVPQLPVQS ATSPDLNPPQ 430 440 450 460 470 480 DPYRGMPPGL QGQSVSSGSS EIKSDDEGDE NLQDTKSSED KKLDDDKKDI KSITSNNDDE 490 500 510 520 530 540 DLTPEQKAER EKERRMANNA RERLRVRDIN EAFKELGRMV QLHLKSDKPQ TKLLILHQAV 550 560 570 580 590 AVILSLEQQV RERNLNPKAA CLKRREEEKV SSEPPPLSLA GPHPGMGDAS NHMGQM
	Isoform H- [UniParc]. Checksum: D52C343573CF65BB	FASTA	567	60,681
	10 20 30 40 50 60 MKFKQCRCSD TGLCCLDHEG KAEQSLLGGD MDMGNPGTLS PTKPGSQYYQ YSSNNPRRRP 70 80 90 100 110 120 LHSSAMEVQT KKVRKVPPGL PSSVYAPSAS TADYNRDSPG YPSSKPATST FPSSFFMQDG 130 140 150 160 170 180 HHSSDPWSSS SGMNQPGYAG MLGNSSHIPQ SSSYCSLHPH ERLSYPSHSS ADINSSLPPM 190 200 210 220 230 240 STFHRSGTNH YSTSSCTPPA NGTDSIMANR GSGAAGSSQT GDALGKALAS IYSPDHTNNS 250 260 270 280 290 300 FSSNPSTPVG SPPSLSAGTA VWSRNGGQAS SSPNYEGPLH SLQSRIEDRL ERLDDAIHVL 310 320 330 340 350 360 RNHAVGPSTA MPGGHGDMHG IIGPSHNGAM GGLGSGYGTG LLSANRHSLM VGTHREDGVA 370 380 390 400 410 420 LRGSHSLLPN QVPVPQLPVQ SATSPDLNPP QDPYRGMPPG LQGQSVSSGS SEIKSDDEGD 430 440 450 460 470 480 ENLQDTKSSE DKKLDDDKKD IKSITSNNDD EDLTPEQKAE REKERRMANN ARERLRVRDI 490 500 510 520 530 540 NEAFKELGRM VQLHLKSDKP QTKLLILHQA VAVILSLEQQ VRERNLNPKA ACLKRREEEK 550 560 VSSEPPPLSL AGPHPGMGDA SNHMGQM
	Isoform D- [UniParc]. Checksum: 7F77B2E736AC27E4	FASTA	537	57,425
	10 20 30 40 50 60 MDMGNPGTLS PTKPGSQYYQ YSSNNPRRRP LHSSAMEVQT KKVRKVPPGL PSSVYAPSAS 70 80 90 100 110 120 TADYNRDSPG YPSSKPATST FPSSFFMQDG HHSSDPWSSS SGMNQPGYAG MLGNSSHIPQ 130 140 150 160 170 180 SSSYCSLHPH ERLSYPSHSS ADINSSLPPM STFHRSGTNH YSTSSCTPPA NGTDSIMANR 190 200 210 220 230 240 GSGAAGSSQT GDALGKALAS IYSPDHTNNS FSSNPSTPVG SPPSLSAGTA VWSRNGGQAS 250 260 270 280 290 300 SSPNYEGPLH SLQSRIEDRL ERLDDAIHVL RNHAVGPSTA MPGGHGDMHG IIGPSHNGAM 310 320 330 340 350 360 GGLGSGYGTG LLSANRHSLM VGTHREDGVA LRGSHSLLPN QVPVPQLPVQ SATSPDLNPP 370 380 390 400 410 420 QDPYRGMPPG LQGQSVSSGS SEIKSDDEGD ENLQDTKSSE DKKLDDDKKD IKSITSNNDD 430 440 450 460 470 480 EDLTPEQKAE REKERRMANN ARERLRVRDI NEAFKELGRM VQLHLKSDKP QTKLLILHQA 490 500 510 520 530 VAVILSLEQQ VRERNLNPKA ACLKRREEEK VSSEPPPLSL AGPHPGMGDA SNHMGQM
	Isoform F- [UniParc]. Checksum: 36CF6C747000814D	FASTA	625	67,027
	10 20 30 40 50 60 MEEDSRDVED RSSSGSWGNG GHPSPSRNYG DGTPYDHMTS RDLGSHDNLS PPFVNSRIQS 70 80 90 100 110 120 KTERGSYSSY GRESNLQGCH QQSLLGGDMD MGNPGTLSPT KPGSQYYQYS SNNPRRRPLH 130 140 150 160 170 180 SSAMEVQTKK VRKVPPGLPS SVYAPSASTA DYNRDSPGYP SSKPATSTFP SSFFMQDGHH 190 200 210 220 230 240 SSDPWSSSSG MNQPGYAGML GNSSHIPQSS SYCSLHPHER LSYPSHSSAD INSSLPPMST 250 260 270 280 290 300 FHRSGTNHYS TSSCTPPANG TDSIMANRGS GAAGSSQTGD ALGKALASIY SPDHTNNSFS 310 320 330 340 350 360 SNPSTPVGSP PSLSAGTAVW SRNGGQASSS PNYEGPLHSL QSRIEDRLER LDDAIHVLRN 370 380 390 400 410 420 HAVGPSTAMP GGHGDMHGII GPSHNGAMGG LGSGYGTGLL SANRHSLMVG THREDGVALR 430 440 450 460 470 480 GSHSLLPNQV PVPQLPVQSA TSPDLNPPQD PYRGMPPGLQ GQSVSSGSSE IKSDDEGDEN 490 500 510 520 530 540 LQDTKSSEDK KLDDDKKDIK SITSNNDDED LTPEQKAERE KERRMANNAR ERLRVRDINE 550 560 570 580 590 600 AFKELGRMVQ LHLKSDKPQT KLLILHQAVA VILSLEQQVR ERNLNPKAAC LKRREEEKVS 610 620 SEPPPLSLAG PHPGMGDASN HMGQM
	Isoform 11 [UniParc]. Checksum: FA530DE0722CDA2E	FASTA	600	64,602
	10 20 30 40 50 60 MKDIFFQFII ARVRKCYSLS CLHTLPVVPT LRKTERGSYS SYGRESNLQG CHQSLLGGDM 70 80 90 100 110 120 DMGNPGTLSP TKPGSQYYQY SSNNPRRRPL HSSAMEVQTK KVRKVPPGLP SSVYAPSAST 130 140 150 160 170 180 ADYNRDSPGY PSSKPATSTF PSSFFMQDGH HSSDPWSSSS GMNQPGYAGM LGNSSHIPQS 190 200 210 220 230 240 SSYCSLHPHE RLSYPSHSSA DINSSLPPMS TFHRSGTNHY STSSCTPPAN GTDSIMANRG 250 260 270 280 290 300 SGAAGSSQTG DALGKALASI YSPDHTNNSF SSNPSTPVGS PPSLSAGTAV WSRNGGQASS 310 320 330 340 350 360 SPNYEGPLHS LQSRIEDRLE RLDDAIHVLR NHAVGPSTAM PGGHGDMHGI IGPSHNGAMG 370 380 390 400 410 420 GLGSGYGTGL LSANRHSLMV GTHREDGVAL RGSHSLLPNQ VPVPQLPVQS ATSPDLNPPQ 430 440 450 460 470 480 DPYRGMPPGL QGQSVSSGSS EIKSDDEGDE NLQDTKSSED KKLDDDKKDI KSITRSRSSN 490 500 510 520 530 540 NDDEDLTPEQ KAEREKERRM ANNARERLRV RDINEAFKEL GRMVQLHLKS DKPQTKLLIL 550 560 570 580 590 600 HQAVAVILSL EQQVRERNLN PKAACLKRRE EEKVSSEPPP LSLAGPHPGM GDASNHMGQM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Helix-loop-helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers." Corneliussen B., Thornell A., Hallberg B., Grundstroem T. J. Virol. 65:6084-6093(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS SEF2-1A; SEF2-1B AND SEF2-1D), ALTERNATIVE SPLICING (ISOFORM SEF2-1C). Tissue: Thymocyte and Thymus.
[2]	"Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5' exon usage and splicing." Sepp M., Kannike K., Eesmaa A., Urb M., Timmusk T. PLoS ONE 6:E22138-E22138(2011) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A-; B-DELTA; B+DELTA; D-; F-; G-; H-; SEF2-1A; SEF2-1B AND SEF2-1D), ALTERNATIVE SPLICING.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS SEF2-1A; D-; F- AND 11). Tissue: Brain and Hippocampus.
[4]	"DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S. Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS SEF2-1B AND SEF2-1D).
[7]	"MDSDCE06_MDS Homo sapiens cDNA clone MDSDCE06 5',mRNA sequence." Gu J., Zhao M., Huang Q., Xu X., Li Y., Peng Y., Song H., Xiao H., Gu Y., Li N., Qian B., Liu F., Qu J., Gao X., Cheng Z., Xu Z., Zeng L., Xu S. , Gu W., Tu Y., Jia J., Fu G., Ren S., Zhong M., Lu G., Yang Y., Gao G., Zhang Q., Chen S., Han Z., Chen Z. Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-278 (ISOFORM SEF2-1A).
[8]	"A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1." Breschel T.S., McInnis M.G., Margolis R.L., Sirugo G., Corneliussen B., Simpson S.G., McMahon F.J., Mackinnon D.F., Xu J.F., Pleasant N., Huo Y., Ashworth R.G., Grundstrom C., Grundstrom T., Kidd K.K., Depaulo J.R., Ross C.A. Hum. Mol. Genet. 6:1855-1863(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 25-48. Tissue: Skin fibroblast.
[9]	"Sequence of the cDNA encoding ITF-2, a positive-acting transcription factor." Henthorn P., McCarrick-Walmsley R., Kadesch T. Nucleic Acids Res. 18:678-678(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 46-667 (ISOFORM SEF2-1B).
[10]	"Two distinct transcription factors that bind the immunoglobulin enhancer microE5/kappa 2 motif." Henthorn P., Kiledjian M., Kadesch T. Science 247:467-470(1990) [PubMed] [Europe PMC] [Abstract] Cited for: DISCUSSION OF SEQUENCE.
[11]	"Nine-amino-acid transactivation domain: establishment and prediction utilities." Piskacek S., Gregor M., Nemethova M., Grabner M., Kovarik P., Piskacek M. Genomics 89:756-768(2007) [PubMed] [Europe PMC] [Abstract] Cited for: DOMAIN.
[12]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-515, MASS SPECTROMETRY.
[13]	"Beta-catenin inhibits promyelocytic leukemia protein tumor suppressor function in colorectal cancer cells." Satow R., Shitashige M., Jigami T., Fukami K., Honda K., Kitabayashi I., Yamada T. Gastroenterology 142:572-581(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PML.
[14]	"Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction." Amiel J., Rio M., de Pontual L., Redon R., Malan V., Boddaert N., Plouin P., Carter N.P., Lyonnet S., Munnich A., Colleaux L. Am. J. Hum. Genet. 80:988-993(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PTHS TRP-576 AND GLN-576.
[15]	"Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)." Zweier C., Peippo M.M., Hoyer J., Sousa S., Bottani A., Clayton-Smith J., Reardon W., Saraiva J., Cabral A., Goehring I., Devriendt K., de Ravel T., Bijlsma E.K., Hennekam R.C.M., Orrico A., Cohen M., Dreweke A., Reis A., Nuernberg P., Rauch A. Am. J. Hum. Genet. 80:994-1001(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PTHS TRP-576.
[16]	"Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients." Zweier C., Sticht H., Bijlsma E.K., Clayton-Smith J., Boonen S.E., Fryer A., Greally M.T., Hoffmann L., den Hollander N.S., Jongmans M., Kant S.G., King M.D., Lynch S.A., McKee S., Midro A.T., Park S.M., Ricotti V., Tarantino E. , Wessels M., Peippo M., Rauch A. J. Med. Genet. 45:738-744(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PTHS VAL-358; PRO-574 AND HIS-578.
[17]	"Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome." de Pontual L., Mathieu Y., Golzio C., Rio M., Malan V., Boddaert N., Soufflet C., Picard C., Durandy A., Dobbie A., Heron D., Isidor B., Motte J., Newburry-Ecob R., Pasquier L., Tardieu M., Viot G., Jaubert F. , Munnich A., Colleaux L., Vekemans M., Etchevers H., Lyonnet S., Amiel J. Hum. Mutat. 30:669-676(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PTHS GLY-535; GLY-572; GLN-576 AND VAL-610, CHARACTERIZATION OF VARIANTS PTHS GLY-535; GLY-572; GLN-576 AND VAL-610.
[18]	"Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum." Whalen S., Heron D., Gaillon T., Moldovan O., Rossi M., Devillard F., Giuliano F., Soares G., Mathieu-Dramard M., Afenjar A., Charles P., Mignot C., Burglen L., Van Maldergem L., Piard J., Aftimos S., Mancini G., Dias P. , Philip N., Goldenberg A., Le Merrer M., Rio M., Josifova D., Van Hagen J.M., Lacombe D., Edery P., Dupuis-Girod S., Putoux A., Sanlaville D., Fischer R., Drevillon L., Briand-Suleau A., Metay C., Goossens M., Amiel J., Jacquette A., Giurgea I. Hum. Mutat. 33:64-72(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PTHS TRP-565; GLY-572; GLN-572; HIS-574; PRO-574; TRP-576; GLN-576; PRO-578; PRO-583 AND VAL-610.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

M74718 mRNA. Translation: AAA60310.1. Sequence problems.
M74719 mRNA. Translation: AAA60311.1.
M74720 mRNA. Translation: AAA60312.1. Sequence problems.
FR748210 mRNA. Translation: CBY80189.1.
FR748211 mRNA. Translation: CBY80190.1.
FR748212 mRNA. Translation: CBY80191.1.
FR748213 mRNA. Translation: CBY80192.1.
FR748217 mRNA. Translation: CBY80196.1.
FR748218 mRNA. Translation: CBY80197.1.
FR748219 mRNA. Translation: CBY80198.1.
FR748220 mRNA. Translation: CBY80199.1.
FR748221 mRNA. Translation: CBY80200.1.
FR748222 mRNA. Translation: CBY80201.1.
AK095041 mRNA. Translation: BAG52974.1.
AK096862 mRNA. Translation: BAG53382.1.
AK300636 mRNA. Translation: BAG62325.1.
AK300038 mRNA. Translation: BAG61849.1.
AK300612 mRNA. Translation: BAH13314.1.
AK316165 mRNA. Translation: BAH14536.1.
AC013587 Genomic DNA. No translation available.
AC018994 Genomic DNA. No translation available.
AC090383 Genomic DNA. No translation available.
AC090684 Genomic DNA. No translation available.
AC091103 Genomic DNA. No translation available.
CH471096 Genomic DNA. Translation: EAW63017.1.
CH471096 Genomic DNA. Translation: EAW63018.1.
BC125084 mRNA. Translation: AAI25085.1.
BC125085 mRNA. Translation: AAI25086.1.
AV761952 mRNA. No translation available.
U75701 Genomic DNA. Translation: AAC51824.1.
X52079 mRNA. Translation: CAA36298.1.

IPI

IPI00013492.
IPI00221260.
IPI00221261.

PIR

A41311.

RefSeq

NP_001077431.1. NM_001083962.1.
NP_001230160.1. NM_001243231.1.
NP_001230161.1. NM_001243232.1.
NP_001230162.1. NM_001243233.1.
NP_001230163.1. NM_001243234.1.
NP_001230164.1. NM_001243235.1.
NP_001230165.1. NM_001243236.1.
NP_003190.1. NM_003199.2.

UniGene

Hs.605153.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2KWF	NMR	-	B	11-27	[»]

DisProt

DP00224.

ProteinModelPortal

P15884.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-163N.

IntAct

P15884. 10 interactions.

MINT

MINT-4508073.

STRING

9606.ENSP00000346440.

PTM databases

PhosphoSite

P15884.

Polymorphism databases

DMDM

3915747.

Proteomic databases

PaxDb

P15884.

PRIDE

P15884.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000354452; ENSP00000346440; ENSG00000196628.
ENST00000356073; ENSP00000348374; ENSG00000196628.
ENST00000457482; ENSP00000409447; ENSG00000196628.
ENST00000537856; ENSP00000439827; ENSG00000196628.
ENST00000543082; ENSP00000439656; ENSG00000196628.
ENST00000544241; ENSP00000441562; ENSG00000196628.
ENST00000561831; ENSP00000457765; ENSG00000196628.
ENST00000561992; ENSP00000455179; ENSG00000196628.
ENST00000564228; ENSP00000455261; ENSG00000196628.
ENST00000564999; ENSP00000457649; ENSG00000196628.
ENST00000565018; ENSP00000455984; ENSG00000196628.
ENST00000566279; ENSP00000456125; ENSG00000196628.
ENST00000567880; ENSP00000454366; ENSG00000196628.
ENST00000570177; ENSP00000454647; ENSG00000196628.
ENST00000570287; ENSP00000455763; ENSG00000196628.

GeneID

6925.

KEGG

hsa:6925.

UCSC

uc002lfw.4. human.
uc002lfz.2. human.
uc010dph.1. human.

Organism-specific databases

CTD

6925.

GeneCards

GC18M052889.

HGNC

HGNC:11634. TCF4.

HPA

CAB020722.
HPA025958.

MIM

602272. gene.
610954. phenotype.

neXtProt

NX_P15884.

Orphanet

672. Pallister-Hall syndrome.
2896. Pitt-Hopkins syndrome.

PharmGKB

PA164742621.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG282899.

HOVERGEN

HBG003854.

KO

K15603.

Enzyme and pathway databases

Pathway_Interaction_DB

wnt_canonical_pathway. Canonical Wnt signaling pathway.
ar_pathway. Coregulation of Androgen receptor activity.

Reactome

REACT_111045. Developmental Biology.

Gene expression databases

ArrayExpress

P15884.

Bgee

P15884.

CleanEx

HS_TCF4.

Genevestigator

P15884.

GermOnline

ENSG00000196628. Homo sapiens.

Family and domain databases

Gene3D

4.10.280.10. 1 hit.

InterPro

IPR011598. bHLH_dom.
[Graphical view]

Pfam

PF00010. HLH. 1 hit.
[Graphical view]

SMART

SM00353. HLH. 1 hit.
[Graphical view]

SUPFAM

SSF47459. HLH_basic. 1 hit.

PROSITE

PS50888. BHLH. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

TCF4. human.

EvolutionaryTrace

P15884.

GenomeRNAi

6925.

NextBio

27093.

SOURCE

Search...

Entry information

Entry name

ITF2_HUMAN

Accession

Primary (citable) accession number: P15884
Secondary accession number(s): B3KT62 , B3KUC0, B4DT37, B4DUG3, G0LNT9, G0LNU0, G0LNU1, G0LNU2, G0LNU8, G0LNU9, G0LNV0, G0LNV1, Q08AP2, Q08AP3, Q15439, Q15440, Q15441

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	December 15, 1998
Last modified:	May 1, 2013
This is version 143 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.