O60315 (ZEB2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger E-box-binding homeobox 2

Alternative name(s):
Smad-interacting protein 1
Short name=SMADIP1
Zinc finger homeobox protein 1b

Gene names

Name:	ZEB2
Synonyms:	KIAA0569, SIP1, ZFHX1B, ZFX1B
ORF Names:	HRIHFB2411

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	1214 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters. Represses transcription of E-cadherin. Ref.8
Subunit structure	Binds activated SMAD1, activated SMAD2 and activated SMAD3; binding with SMAD4 is not detected By similarity. Interacts with CBX4 and CTBP1. Ref.8
Subcellular location	Nucleus Ref.7 Ref.8.
Post-translational modification	Sumoylation on Lys-391 and Lys-866 is promoted by the E3 SUMO-protein ligase CBX4, and impairs interaction with CTBP1 and transcription repression activity. Ref.8
Involvement in disease	Mowat-Wilson syndrome (MWIS) [MIM:235730]: A complex developmental disorder characterized by mental retardation, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.11 Ref.12 Ref.13
Sequence similarities	Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family. Contains 7 C2H2-type zinc fingers. Contains 1 homeobox DNA-binding domain.
Sequence caution	The sequence BAA25495.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Epilepsy Hirschsprung disease Mental retardation
Domain	Homeobox Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Repressor
PTM	Acetylation Isopeptide bond Phosphoprotein Ubl conjugation
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell proliferation in forebrain Inferred from electronic annotation. Source: Compara hippocampus development Inferred from electronic annotation. Source: Compara nervous system development Non-traceable author statement Ref.2. Source: UniProtKB neural crest cell migration Inferred from electronic annotation. Source: Compara neural tube closure Inferred from electronic annotation. Source: Compara positive regulation of JUN kinase activity Inferred from electronic annotation. Source: Compara positive regulation of Wnt receptor signaling pathway Inferred from electronic annotation. Source: Compara somitogenesis Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from direct assay. Source: HPA nucleolus Inferred from direct assay. Source: HPA
Molecular_function	SMAD binding Non-traceable author statement. Source: UniProtKB phosphatase regulator activity Non-traceable author statement PubMed 11477103. Source: UniProtKB sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O60315-1)

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 2 (identifier: O60315-2)

The sequence of this isoform differs from the canonical sequence as follows:
     111-134: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1214

1214

Zinc finger E-box-binding homeobox 2

PRO_0000047236

Regions

Zinc finger

211 – 234

24

C2H2-type 1

Zinc finger

241 – 263

23

C2H2-type 2

Zinc finger

282 – 304

23

C2H2-type 3

Zinc finger

310 – 334

25

C2H2-type 4; atypical

DNA binding

644 – 703

60

Homeobox; atypical

Zinc finger

999 – 1021

23

C2H2-type 5

Zinc finger

1027 – 1049

23

C2H2-type 6

Zinc finger

1055 – 1076

22

C2H2-type 7; atypical

Region

437 – 487

51

SMAD-MH2 binding domain By similarity

Compositional bias

1084 – 1214

131

Glu-rich (acidic)

Amino acid modifications

Modified residue

36

1

Phosphoserine By similarity

Modified residue

38

1

Phosphothreonine By similarity

Modified residue

377

1

N6-acetyllysine Ref.9

Modified residue

778

1

Phosphoserine By similarity

Modified residue

780

1

Phosphoserine By similarity

Modified residue

782

1

Phosphothreonine By similarity

Modified residue

784

1

Phosphoserine By similarity

Modified residue

1167

1

Phosphoserine By similarity

Cross-link

391

Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.8

Cross-link

866

Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.8

Natural variations

Alternative sequence

111 – 134

24

Missing in isoform 2.

VSP_044797

Natural variant

99

1

Missing in MWIS. Ref.11

VAR_027016

Natural variant

953

1

R → G in MWIS. Ref.12

VAR_027017

Natural variant

983

1

D → N in a colorectal cancer sample; somatic mutation. Ref.14

VAR_035563

Natural variant

1119

1

Q → R in MWIS. Ref.13

VAR_027018

Experimental info

Sequence conflict

1155

1

D → G in BAH11928. Ref.4

Secondary structure

1

.

.

.

.

.

.

.

1214

Helix Strand Turn

Details...

Helix

654 – 665

12

Helix

671 – 681

11

Helix

685 – 700

16

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 1, 1998. Version 1. Checksum: B578FD91339C3FDD	FASTA	1,214	136,447
	10 20 30 40 50 60 MKQPIMADGP RCKRRKQANP RRKNVVNYDN VVDTGSETDE EDKLHIAEDD GIANPLDQET 70 80 90 100 110 120 SPASVPNHES SPHVSQALLP REEEEDEIRE GGVEHPWHNN EILQASVDGP EEMKEDYDTM 130 140 150 160 170 180 GPEATIQTAI NNGTVKNANC TSDFEEYFAK RKLEERDGHA VSIEEYLQRS DTAIIYPEAP 190 200 210 220 230 240 EELSRLGTPE ANGQEENDLP PGTPDAFAQL LTCPYCDRGY KRLTSLKEHI KYRHEKNEEN 250 260 270 280 290 300 FSCPLCSYTF AYRTQLERHM VTHKPGTDQH QMLTQGAGNR KFKCTECGKA FKYKHHLKEH 310 320 330 340 350 360 LRIHSGEKPY ECPNCKKRFS HSGSYSSHIS SKKCIGLISV NGRMRNNIKT GSSPNSVSSS 370 380 390 400 410 420 PTNSAITQLR NKLENGKPLS MSEQTGLLKI KTEPLDFNDY KVLMATHGFS GTSPFMNGGL 430 440 450 460 470 480 GATSPLGVHP SAQSPMQHLG VGMEAPLLGF PTMNSNLSEV QKVLQIVDNT VSRQKMDCKA 490 500 510 520 530 540 EEISKLKGYH MKDPCSQPEE QGVTSPNIPP VGLPVVSHNG ATKSIIDYTL EKVNEAKACL 550 560 570 580 590 600 QSLTTDSRRQ ISNIKKEKLR TLIDLVTDDK MIENHNISTP FSCQFCKESF PGPIPLHQHE 610 620 630 640 650 660 RYLCKMNEEI KAVLQPHENI VPNKAGVFVD NKALLLSSVL SEKGMTSPIN PYKDHMSVLK 670 680 690 700 710 720 AYYAMNMEPN SDELLKISIA VGLPQEFVKE WFEQRKVYQY SNSRSPSLER SSKPLAPNSN 730 740 750 760 770 780 PPTKDSLLPR SPVKPMDSIT SPSIAELHNS VTNCDPPLRL TKPSHFTNIK PVEKLDHSRS 790 800 810 820 830 840 NTPSPLNLSS TSSKNSHSSS YTPNSFSSEE LQAEPLDLSL PKQMKEPKSI IATKNKTKAS 850 860 870 880 890 900 SISLDHNSVS SSSENSDEPL NLTFIKKEFS NSNNLDNKST NPVFSMNPFS AKPLYTALPP 910 920 930 940 950 960 QSAFPPATFM PPVQTSIPGL RPYPGLDQMS FLPHMAYTYP TGAATFADMQ QRRKYQRKQG 970 980 990 1000 1010 1020 FQGELLDGAQ DYMSGLDDMT DSDSCLSRKK IKKTESGMYA CDLCDKTFQK SSSLLRHKYE 1030 1040 1050 1060 1070 1080 HTGKRPHQCQ ICKKAFKHKH HLIEHSRLHS GEKPYQCDKC GKRFSHSGSY SQHMNHRYSY 1090 1100 1110 1120 1130 1140 CKREAEEREA AEREAREKGH LEPTELLMNR AYLQSITPQG YSDSEERESM PRDGESEKEH 1150 1160 1170 1180 1190 1200 EKEGEDGYGK LGRQDGDEEF EEEEEESENK SMDTDPETIR DEEETGDHSM DDSSEDGKME 1210 TKSDHEEDNM EDGM
	Isoform 2 [UniParc]. Checksum: B9E3278A9EEF8AAC	FASTA	1,190	133,806
	10 20 30 40 50 60 MKQPIMADGP RCKRRKQANP RRKNVVNYDN VVDTGSETDE EDKLHIAEDD GIANPLDQET 70 80 90 100 110 120 SPASVPNHES SPHVSQALLP REEEEDEIRE GGVEHPWHNN EILQASVDGP VKNANCTSDF 130 140 150 160 170 180 EEYFAKRKLE ERDGHAVSIE EYLQRSDTAI IYPEAPEELS RLGTPEANGQ EENDLPPGTP 190 200 210 220 230 240 DAFAQLLTCP YCDRGYKRLT SLKEHIKYRH EKNEENFSCP LCSYTFAYRT QLERHMVTHK 250 260 270 280 290 300 PGTDQHQMLT QGAGNRKFKC TECGKAFKYK HHLKEHLRIH SGEKPYECPN CKKRFSHSGS 310 320 330 340 350 360 YSSHISSKKC IGLISVNGRM RNNIKTGSSP NSVSSSPTNS AITQLRNKLE NGKPLSMSEQ 370 380 390 400 410 420 TGLLKIKTEP LDFNDYKVLM ATHGFSGTSP FMNGGLGATS PLGVHPSAQS PMQHLGVGME 430 440 450 460 470 480 APLLGFPTMN SNLSEVQKVL QIVDNTVSRQ KMDCKAEEIS KLKGYHMKDP CSQPEEQGVT 490 500 510 520 530 540 SPNIPPVGLP VVSHNGATKS IIDYTLEKVN EAKACLQSLT TDSRRQISNI KKEKLRTLID 550 560 570 580 590 600 LVTDDKMIEN HNISTPFSCQ FCKESFPGPI PLHQHERYLC KMNEEIKAVL QPHENIVPNK 610 620 630 640 650 660 AGVFVDNKAL LLSSVLSEKG MTSPINPYKD HMSVLKAYYA MNMEPNSDEL LKISIAVGLP 670 680 690 700 710 720 QEFVKEWFEQ RKVYQYSNSR SPSLERSSKP LAPNSNPPTK DSLLPRSPVK PMDSITSPSI 730 740 750 760 770 780 AELHNSVTNC DPPLRLTKPS HFTNIKPVEK LDHSRSNTPS PLNLSSTSSK NSHSSSYTPN 790 800 810 820 830 840 SFSSEELQAE PLDLSLPKQM KEPKSIIATK NKTKASSISL DHNSVSSSSE NSDEPLNLTF 850 860 870 880 890 900 IKKEFSNSNN LDNKSTNPVF SMNPFSAKPL YTALPPQSAF PPATFMPPVQ TSIPGLRPYP 910 920 930 940 950 960 GLDQMSFLPH MAYTYPTGAA TFADMQQRRK YQRKQGFQGE LLDGAQDYMS GLDDMTDSDS 970 980 990 1000 1010 1020 CLSRKKIKKT ESGMYACDLC DKTFQKSSSL LRHKYEHTGK RPHQCQICKK AFKHKHHLIE 1030 1040 1050 1060 1070 1080 HSRLHSGEKP YQCDKCGKRF SHSGSYSQHM NHRYSYCKRE AEEREAAERE AREKGHLEPT 1090 1100 1110 1120 1130 1140 ELLMNRAYLQ SITPQGYSDS EERESMPRDG ESEKEHEKEG EDGYGKLGRQ DGDEEFEEEE 1150 1160 1170 1180 1190 EESENKSMDT DPETIRDEEE TGDHSMDDSS EDGKMETKSD HEEDNMEDGM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease." Cacheux V., Dastot-Le Moal F., Kaeaeriaeinen H., Bondurand N., Rintala R., Boissier B., Wilson M., Mowat D., Goossens M. Hum. Mol. Genet. 10:1503-1510(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], DISEASE.
[2]	"Mutations in SIP1, encoding Smad interacting protein 1, cause a form of Hirschsprung disease." Wakamatsu N., Yamada Y., Yamada K., Ono T., Nomura N., Taniguchi H., Kitoh H., Mutoh N., Yamanaka T., Mushiake K., Kato K., Sonta S., Nagaya M. Nat. Genet. 27:369-370(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	"Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[4]	"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] (ISOFORM 2). Tissue: Brain.
[5]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] 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] (ISOFORM 1).
[7]	"Selection system for genes encoding nuclear-targeted proteins." Ueki N., Oda T., Kondo M., Yano K., Noguchi T., Muramatsu M.-A. Nat. Biotechnol. 16:1338-1342(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1161-1214 (ISOFORM 1), SUBCELLULAR LOCATION. Tissue: Fetal brain.
[8]	"Pc2-mediated sumoylation of Smad-interacting protein 1 attenuates transcriptional repression of E-cadherin." Long J., Zuo D., Park M. J. Biol. Chem. 280:35477-35489(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUMOYLATION AT LYS-391 AND LYS-866, INTERACTION WITH CBX4 AND CTBP1, SUBCELLULAR LOCATION.
[9]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-377, MASS SPECTROMETRY.
[10]	"Solution structure of the homeobox domain of zinc finger homeobox protein 1B (SMAD interacting protein 1)." RIKEN structural genomics initiative (RSGI) Submitted (DEC-2006) to the PDB data bank Cited for: STRUCTURE BY NMR OF 647-705.
[11]	"Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B." Yoneda M., Fujita T., Yamada Y., Yamada K., Fujii A., Inagaki T., Nakagawa H., Shimada A., Kishikawa M., Nagaya M., Azuma T., Kuriyama M., Wakamatsu N. Neurology 59:1637-1640(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MWIS ASN-99 DEL.
[12]	"Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21." Gregory-Evans C.Y., Vieira H., Dalton R., Adams G.G.W., Salt A., Gregory-Evans K. Am. J. Med. Genet. A 131:86-90(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MWIS GLY-953.
[13]	"A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype." Heinritz W., Zweier C., Froster U.G., Strenge S., Kujat A., Syrbe S., Rauch A., Schuster V. Am. J. Med. Genet. A 140:1223-1227(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MWIS ARG-1119.
[14]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-983.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AY029472 Genomic DNA. Translation: AAK52081.1.
AB056507 mRNA. Translation: BAB40819.1.
AB011141 mRNA. Translation: BAA25495.2. Different initiation.
AK294928 mRNA. Translation: BAH11928.1.
AC009951 Genomic DNA. No translation available.
AC010130 Genomic DNA. No translation available.
BC127102 mRNA. Translation: AAI27103.1.
AB015341 mRNA. Translation: BAA34798.1.

IPI

IPI00783017.
IPI00917827.

RefSeq

NP_001165124.1. NM_001171653.1.
NP_055610.1. NM_014795.3.

UniGene

Hs.34871.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2DA7	NMR	-	A	647-704	[»]

ProteinModelPortal

O60315.

ModBase

Search...

Protein-protein interaction databases

IntAct

O60315. 7 interactions.

MINT

MINT-1181379.

STRING

9606.ENSP00000302501.

PTM databases

PhosphoSite

O60315.

Proteomic databases

PaxDb

O60315.

PRIDE

O60315.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000303660; ENSP00000302501; ENSG00000169554.
ENST00000409487; ENSP00000386854; ENSG00000169554.
ENST00000539609; ENSP00000443792; ENSG00000169554.
ENST00000558170; ENSP00000454157; ENSG00000169554.

GeneID

9839.

KEGG

hsa:9839.

UCSC

uc002tvu.3. human.

Organism-specific databases

CTD

9839.

GeneCards

GC02M145121.

HGNC

HGNC:14881. ZEB2.

HPA

HPA003456.

MIM

235730. phenotype.
605802. gene.

neXtProt

NX_O60315.

Orphanet

2152. Mowat-Wilson syndrome.
261537. Mowat-Wilson syndrome due to monosomy 2q22.

PharmGKB

PA162409612.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG5048.

HOGENOM

HOG000264256.

HOVERGEN

HBG004697.

InParanoid

O60315.

KO

K09299.

OMA

LKAYYAM.

OrthoDB

EOG4KD6K7.

PhylomeDB

O60315.

Gene expression databases

ArrayExpress

O60315.

Bgee

O60315.

CleanEx

HS_SIP1.
HS_ZEB2.

Genevestigator

O60315.

GermOnline

ENSG00000169554. Homo sapiens.

Family and domain databases

Gene3D

3.30.160.60. 5 hits.

InterPro

IPR001356. Homeodomain.
IPR009057. Homeodomain-like.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]

Pfam

PF00096. zf-C2H2. 1 hit.
[Graphical view]

SMART

SM00389. HOX. 1 hit.
SM00355. ZnF_C2H2. 8 hits.
[Graphical view]

SUPFAM

SSF46689. Homeodomain_like. 1 hit.

PROSITE

PS00027. HOMEOBOX_1. False negative.
PS50071. HOMEOBOX_2. False negative.
PS00028. ZINC_FINGER_C2H2_1. 5 hits.
PS50157. ZINC_FINGER_C2H2_2. 6 hits.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

ZEB2. human.

EvolutionaryTrace

O60315.

GenomeRNAi

9839.

NextBio

37070.

SOURCE

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Entry information

Entry name

ZEB2_HUMAN

Accession

Primary (citable) accession number: O60315
Secondary accession number(s): A0JP09 , B7Z2P2, F5H814, Q9UED1

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	August 1, 1998
Last modified:	May 1, 2013
This is version 142 of the entry and version 1 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.