P10070 (GLI2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein GLI2

Alternative name(s):
Tax helper protein

Gene names

Name:	GLI2
Synonyms:	THP

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1586 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Acts as a transcriptional activator. May play a role during embryogenesis. Binds to the DNA sequence 5'-GAACCACCCA-3' which is part of the TRE-2S regulatory element that augments the Tax-dependent enhancer of human T-cell leukemia virus type 1. Implicated in the transduction of SHH signal.
Subunit structure	Interaction with ZIC By similarity.
Subcellular location	Nucleus By similarity.
Post-translational modification	Phosphorylated in vitro by ULK3. Ref.7
Involvement in disease	Defects in GLI2 are the cause of holoprosencephaly type 9 (HPE9) [MIM:610829]; also called pituitary anomalies with holoprosencephaly-like features. The primary features of this disease include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia. Holoprosencephaly is the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. Ref.6 Ref.8
Sequence similarities	Belongs to the GLI C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers.
Sequence caution	The sequence BAA03568.1 differs from that shown. Reason: Frameshift at positions 754 and 760. The sequence BAA03569.1 differs from that shown. Reason: Frameshift at positions 398, 410, 754 and 760. The sequence BAA25665.1 differs from that shown. Reason: Frameshift at positions 398 and 410. The sequence BAA25667.1 differs from that shown. Reason: Frameshift at positions 398 and 410.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Holoprosencephaly
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Activator
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	axon guidance Inferred from sequence or structural similarity. Source: UniProtKB branching morphogenesis of a tube Inferred from sequence or structural similarity. Source: UniProtKB cell proliferation Inferred from direct assay Ref.2. Source: UniProtKB cerebellar cortex morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB developmental growth Inferred from sequence or structural similarity. Source: UniProtKB embryonic digestive tract development Inferred from sequence or structural similarity. Source: UniProtKB epidermal cell differentiation Inferred from direct assay. Source: UniProtKB floor plate formation Inferred from sequence or structural similarity. Source: UniProtKB heart development Inferred from sequence or structural similarity. Source: UniProtKB hindgut morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB kidney development Inferred from sequence or structural similarity. Source: UniProtKB lung development Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of transcription from RNA polymerase II promoter Inferred from mutant phenotype Ref.2. Source: UniProtKB odontogenesis of dentin-containing tooth Inferred from sequence or structural similarity. Source: UniProtKB osteoblast development Inferred from sequence or structural similarity. Source: UniProtKB osteoblast differentiation Inferred from direct assay. Source: UniProtKB pituitary gland development Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of DNA replication Inferred from direct assay. Source: UniProtKB positive regulation of T cell differentiation in thymus Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay Ref.2. Source: UniProtKB proximal/distal pattern formation Inferred from sequence or structural similarity. Source: UniProtKB skeletal system development Inferred from sequence or structural similarity. Source: UniProtKB smoothened signaling pathway involved in ventral spinal cord interneuron specification Inferred from sequence or structural similarity. Source: UniProtKB spinal cord ventral commissure morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from physical interaction. Source: UniProtKB sequence-specific DNA binding Inferred from direct assay Ref.1. Source: UniProtKB sequence-specific DNA binding transcription factor activity Inferred from direct assay Ref.2Ref.1. Source: UniProtKB zinc ion binding Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 5 (identifier: P10070-5)

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 Alpha (identifier: P10070-1)

The sequence of this isoform differs from the canonical sequence as follows:
     1-328: Missing.

Isoform Beta (identifier: P10070-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-328: Missing.
     394-410: Missing.

Isoform Gamma (identifier: P10070-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-328: Missing.
     1149-1157: VSSGTVDAL → ASATWLSGT
     1158-1586: Missing.

Isoform Delta (identifier: P10070-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-328: Missing.
     394-410: Missing.
     1149-1157: VSSGTVDAL → ASATWLSGT
     1158-1586: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1586	1586	Zinc finger protein GLI2		PRO_0000354050
Regions
	Zinc finger	437 – 464	28	C2H2-type 1
	Zinc finger	475 – 497	23	C2H2-type 2; degenerate
	Zinc finger	503 – 527	25	C2H2-type 3
	Zinc finger	533 – 558	26	C2H2-type 4
	Zinc finger	564 – 589	26	C2H2-type 5
	Compositional bias	789 – 876	88	Ser-rich
Amino acid modifications
	Modified residue	725	1	Phosphothreonine By similarity
Natural variations
	Alternative sequence	1 – 328	328	Missing in isoform Alpha, isoform Beta, isoform Delta and isoform Gamma.		VSP_035708
	Alternative sequence	394 – 410	17	Missing in isoform Beta and isoform Delta.		VSP_006877
	Alternative sequence	1149 – 1157	9	VSSGTVDAL → ASATWLSGT in isoform Gamma and isoform Delta.		VSP_006878
	Alternative sequence	1158 – 1586	429	Missing in isoform Gamma and isoform Delta.		VSP_006879
	Natural variant	449	1	D → H. Corresponds to variant rs13427953 [ dbSNP | Ensembl ].		VAR_047303
	Natural variant	479	1	R → G in HPE9. Ref.8		VAR_032975
	Natural variant	579	1	S → I. Corresponds to variant rs12618388 [ dbSNP | Ensembl ].		VAR_047304
	Natural variant	625	1	P → S. Corresponds to variant rs3099537 [ dbSNP | Ensembl ].		VAR_047305
	Natural variant	932	1	P → S in HPE9. Ref.8		VAR_032976
	Natural variant	1156	1	A → S. Ref.1 Corresponds to variant rs3738880 [ dbSNP | Ensembl ].		VAR_047306
	Natural variant	1306	1	D → N. Ref.1 Corresponds to variant rs12711538 [ dbSNP | Ensembl ].		VAR_047307
	Natural variant	1444	1	M → I in HPE9. Ref.8		VAR_032977
	Natural variant	1554	1	P → L in HPE9. Ref.8		VAR_032978
Experimental info
	Sequence conflict	456	1	H → Q in M20672. Ref.5
	Sequence conflict	718 – 719	2	QL → HV in BAA03568. Ref.4
	Sequence conflict	718 – 719	2	QL → HV in BAA03569. Ref.4
	Sequence conflict	923 – 925	3	PER → AEG in BAA25665. Ref.1
	Sequence conflict	923 – 925	3	PER → AEG in BAA25667. Ref.1
	Sequence conflict	923 – 925	3	PER → AEG in BAA25666. Ref.1
	Sequence conflict	923 – 925	3	PER → AEG in BAA25668. Ref.1
	Sequence conflict	966	1	A → T in BAA25665. Ref.1
	Sequence conflict	966	1	A → T in BAA25667. Ref.1
	Sequence conflict	966	1	A → T in BAA25666. Ref.1
	Sequence conflict	966	1	A → T in BAA25668. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 5 [UniParc]. Last modified November 25, 2008. Version 4. Checksum: 86556112E13DE106	FASTA	1,586	167,783
	10 20 30 40 50 60 METSASATAS EKQEAKSGIL EAAGFPDPGK KASPLVVAAA AAAAVAAQGV PQHLLPPFHA 70 80 90 100 110 120 PLPIDMRHQE GRYHYEPHSV HGVHGPPALS GSPVISDISL IRLSPHPAGP GESPFNAPHP 130 140 150 160 170 180 YVNPHMEHYL RSVHSSPTLS MISAARGLSP ADVAQEHLKE RGLFGLPAPG TTPSDYYHQM 190 200 210 220 230 240 TLVAGHPAPY GDLLMQSGGA ASAPHLHDYL NPVDVSRFSS PRVTPRLSRK RALSISPLSD 250 260 270 280 290 300 ASLDLQRMIR TSPNSLVAYI NNSRSSSAAS GSYGHLSAGA LSPAFTFPHP INPVAYQQIL 310 320 330 340 350 360 SQQRGLGSAF GHTPPLIQPS PTFLAQQPMA LTSINATPTQ LSSSSNCLSD TNQNKQSSES 370 380 390 400 410 420 AVSSTVNPVA IHKRSKVKTE PEGLRPASPL ALTQGQVSGH GSCGCALPLS QEQLADLKED 430 440 450 460 470 480 LDRDDCKQEA EVVIYETNCH WEDCTKEYDT QEQLVHHINN EHIHGEKKEF VCRWQACTRE 490 500 510 520 530 540 QKPFKAQYML VVHMRRHTGE KPHKCTFEGC SKAYSRLENL KTHLRSHTGE KPYVCEHEGC 550 560 570 580 590 600 NKAFSNASDR AKHQNRTHSN EKPYICKIPG CTKRYTDPSS LRKHVKTVHG PDAHVTKKQR 610 620 630 640 650 660 NDVHLRTPLL KENGDSEAGT EPGGPESTEA SSTSQAVEDC LHVRAIKTES SGLCQSSPGA 670 680 690 700 710 720 QSSCSSEPSP LGSAPNNDSG VEMPGTGPGS LGDLTALDDT PPGADTSALA APSAGGLQLR 730 740 750 760 770 780 KHMTTMHRFE QLKKEKLKSL KDSCSWAGPT PHTRNTKLPP LPGSGSILEN FSGSGGGGPA 790 800 810 820 830 840 GLLPNPRLSE LSASEVTMLS QLQERRDSST STVSSAYTVS RRSSGISPYF SSRRSSEASP 850 860 870 880 890 900 LGAGRPHNAS SADSYDPIST DASRRSSEAS QCSGGSGLLN LTPAQQYSLR AKYAAATGGP 910 920 930 940 950 960 PPTPLPGLER MSLRTRLALL DAPERTLPAG CPRPLGPRRG SDGPTYGHGH AGAAPAFPHE 970 980 990 1000 1010 1020 APGGGARRAS DPVRRPDALS LPRVQRFHST HNVNPGPLPP CADRRGLRLQ SHPSTDGGLA 1030 1040 1050 1060 1070 1080 RGAYSPRPPS ISENVAMEAV AAGVDGAGPE ADLGLPEDDL VLPDDVVQYI KAHASGALDE 1090 1100 1110 1120 1130 1140 GTGQVYPTES TGFSDNPRLP SPGLHGQRRM VAADSNVGPS APMLGGCQLG FGAPSSLNKN 1150 1160 1170 1180 1190 1200 NMPVQWNEVS SGTVDALASQ VKPPPFPQGN LAVVQQKPAF GQYPGYSPQG LQASPGGLDS 1210 1220 1230 1240 1250 1260 TQPHLQPRSG APSQGIPRVN YMQQLRQPVA GSQCPGMTTT MSPHACYGQV HPQLSPSTIS 1270 1280 1290 1300 1310 1320 GALNQFPQSC SNMPAKPGHL GHPQQTEVAP DPTTMGNRHR ELGVPDSALA GVPPPHPVQS 1330 1340 1350 1360 1370 1380 YPQQSHHLAA SMSQEGYHQV PSLLPARQPG FMEPQTGPMG VATAGFGLVQ PRPPLEPSPT 1390 1400 1410 1420 1430 1440 GRHRGVRAVQ QQLAYARATG HAMAAMPSSQ ETAEAVPKGA MGNMGSVPPQ PPPQDAGGAP 1450 1460 1470 1480 1490 1500 DHSMLYYYGQ IHMYEQDGGL ENLGSCQVMR SQPPQPQACQ DSIQPQPLPS PGVNQVSSTV 1510 1520 1530 1540 1550 1560 DSQLLEAPQI DFDAIMDDGD HSSLFSGALS PSLLHSLSQN SSRLTTPRNS LTLPSIPAGI 1570 1580 SNMAVGDMSS MLTSLAEESK FLNMMT
	Isoform Alpha [UniParc]. Checksum: 0240AD781CDAB1CB	FASTA	1,258	133,241
	10 20 30 40 50 60 MALTSINATP TQLSSSSNCL SDTNQNKQSS ESAVSSTVNP VAIHKRSKVK TEPEGLRPAS 70 80 90 100 110 120 PLALTQGQVS GHGSCGCALP LSQEQLADLK EDLDRDDCKQ EAEVVIYETN CHWEDCTKEY 130 140 150 160 170 180 DTQEQLVHHI NNEHIHGEKK EFVCRWQACT REQKPFKAQY MLVVHMRRHT GEKPHKCTFE 190 200 210 220 230 240 GCSKAYSRLE NLKTHLRSHT GEKPYVCEHE GCNKAFSNAS DRAKHQNRTH SNEKPYICKI 250 260 270 280 290 300 PGCTKRYTDP SSLRKHVKTV HGPDAHVTKK QRNDVHLRTP LLKENGDSEA GTEPGGPEST 310 320 330 340 350 360 EASSTSQAVE DCLHVRAIKT ESSGLCQSSP GAQSSCSSEP SPLGSAPNND SGVEMPGTGP 370 380 390 400 410 420 GSLGDLTALD DTPPGADTSA LAAPSAGGLQ LRKHMTTMHR FEQLKKEKLK SLKDSCSWAG 430 440 450 460 470 480 PTPHTRNTKL PPLPGSGSIL ENFSGSGGGG PAGLLPNPRL SELSASEVTM LSQLQERRDS 490 500 510 520 530 540 STSTVSSAYT VSRRSSGISP YFSSRRSSEA SPLGAGRPHN ASSADSYDPI STDASRRSSE 550 560 570 580 590 600 ASQCSGGSGL LNLTPAQQYS LRAKYAAATG GPPPTPLPGL ERMSLRTRLA LLDAPERTLP 610 620 630 640 650 660 AGCPRPLGPR RGSDGPTYGH GHAGAAPAFP HEAPGGGARR ASDPVRRPDA LSLPRVQRFH 670 680 690 700 710 720 STHNVNPGPL PPCADRRGLR LQSHPSTDGG LARGAYSPRP PSISENVAME AVAAGVDGAG 730 740 750 760 770 780 PEADLGLPED DLVLPDDVVQ YIKAHASGAL DEGTGQVYPT ESTGFSDNPR LPSPGLHGQR 790 800 810 820 830 840 RMVAADSNVG PSAPMLGGCQ LGFGAPSSLN KNNMPVQWNE VSSGTVDALA SQVKPPPFPQ 850 860 870 880 890 900 GNLAVVQQKP AFGQYPGYSP QGLQASPGGL DSTQPHLQPR SGAPSQGIPR VNYMQQLRQP 910 920 930 940 950 960 VAGSQCPGMT TTMSPHACYG QVHPQLSPST ISGALNQFPQ SCSNMPAKPG HLGHPQQTEV 970 980 990 1000 1010 1020 APDPTTMGNR HRELGVPDSA LAGVPPPHPV QSYPQQSHHL AASMSQEGYH QVPSLLPARQ 1030 1040 1050 1060 1070 1080 PGFMEPQTGP MGVATAGFGL VQPRPPLEPS PTGRHRGVRA VQQQLAYARA TGHAMAAMPS 1090 1100 1110 1120 1130 1140 SQETAEAVPK GAMGNMGSVP PQPPPQDAGG APDHSMLYYY GQIHMYEQDG GLENLGSCQV 1150 1160 1170 1180 1190 1200 MRSQPPQPQA CQDSIQPQPL PSPGVNQVSS TVDSQLLEAP QIDFDAIMDD GDHSSLFSGA 1210 1220 1230 1240 1250 LSPSLLHSLS QNSSRLTTPR NSLTLPSIPA GISNMAVGDM SSMLTSLAEE SKFLNMMT
	Isoform Beta [UniParc]. Checksum: CAD32033BE131937	FASTA	1,241	131,659
	10 20 30 40 50 60 MALTSINATP TQLSSSSNCL SDTNQNKQSS ESAVSSTVNP VAIHKRSKVK TEPEGLRPAS 70 80 90 100 110 120 PLALTQEQLA DLKEDLDRDD CKQEAEVVIY ETNCHWEDCT KEYDTQEQLV HHINNEHIHG 130 140 150 160 170 180 EKKEFVCRWQ ACTREQKPFK AQYMLVVHMR RHTGEKPHKC TFEGCSKAYS RLENLKTHLR 190 200 210 220 230 240 SHTGEKPYVC EHEGCNKAFS NASDRAKHQN RTHSNEKPYI CKIPGCTKRY TDPSSLRKHV 250 260 270 280 290 300 KTVHGPDAHV TKKQRNDVHL RTPLLKENGD SEAGTEPGGP ESTEASSTSQ AVEDCLHVRA 310 320 330 340 350 360 IKTESSGLCQ SSPGAQSSCS SEPSPLGSAP NNDSGVEMPG TGPGSLGDLT ALDDTPPGAD 370 380 390 400 410 420 TSALAAPSAG GLQLRKHMTT MHRFEQLKKE KLKSLKDSCS WAGPTPHTRN TKLPPLPGSG 430 440 450 460 470 480 SILENFSGSG GGGPAGLLPN PRLSELSASE VTMLSQLQER RDSSTSTVSS AYTVSRRSSG 490 500 510 520 530 540 ISPYFSSRRS SEASPLGAGR PHNASSADSY DPISTDASRR SSEASQCSGG SGLLNLTPAQ 550 560 570 580 590 600 QYSLRAKYAA ATGGPPPTPL PGLERMSLRT RLALLDAPER TLPAGCPRPL GPRRGSDGPT 610 620 630 640 650 660 YGHGHAGAAP AFPHEAPGGG ARRASDPVRR PDALSLPRVQ RFHSTHNVNP GPLPPCADRR 670 680 690 700 710 720 GLRLQSHPST DGGLARGAYS PRPPSISENV AMEAVAAGVD GAGPEADLGL PEDDLVLPDD 730 740 750 760 770 780 VVQYIKAHAS GALDEGTGQV YPTESTGFSD NPRLPSPGLH GQRRMVAADS NVGPSAPMLG 790 800 810 820 830 840 GCQLGFGAPS SLNKNNMPVQ WNEVSSGTVD ALASQVKPPP FPQGNLAVVQ QKPAFGQYPG 850 860 870 880 890 900 YSPQGLQASP GGLDSTQPHL QPRSGAPSQG IPRVNYMQQL RQPVAGSQCP GMTTTMSPHA 910 920 930 940 950 960 CYGQVHPQLS PSTISGALNQ FPQSCSNMPA KPGHLGHPQQ TEVAPDPTTM GNRHRELGVP 970 980 990 1000 1010 1020 DSALAGVPPP HPVQSYPQQS HHLAASMSQE GYHQVPSLLP ARQPGFMEPQ TGPMGVATAG 1030 1040 1050 1060 1070 1080 FGLVQPRPPL EPSPTGRHRG VRAVQQQLAY ARATGHAMAA MPSSQETAEA VPKGAMGNMG 1090 1100 1110 1120 1130 1140 SVPPQPPPQD AGGAPDHSML YYYGQIHMYE QDGGLENLGS CQVMRSQPPQ PQACQDSIQP 1150 1160 1170 1180 1190 1200 QPLPSPGVNQ VSSTVDSQLL EAPQIDFDAI MDDGDHSSLF SGALSPSLLH SLSQNSSRLT 1210 1220 1230 1240 TPRNSLTLPS IPAGISNMAV GDMSSMLTSL AEESKFLNMM T
	Isoform Gamma [UniParc]. Checksum: FBCD29D12CFCC01C	FASTA	829	88,065
	10 20 30 40 50 60 MALTSINATP TQLSSSSNCL SDTNQNKQSS ESAVSSTVNP VAIHKRSKVK TEPEGLRPAS 70 80 90 100 110 120 PLALTQGQVS GHGSCGCALP LSQEQLADLK EDLDRDDCKQ EAEVVIYETN CHWEDCTKEY 130 140 150 160 170 180 DTQEQLVHHI NNEHIHGEKK EFVCRWQACT REQKPFKAQY MLVVHMRRHT GEKPHKCTFE 190 200 210 220 230 240 GCSKAYSRLE NLKTHLRSHT GEKPYVCEHE GCNKAFSNAS DRAKHQNRTH SNEKPYICKI 250 260 270 280 290 300 PGCTKRYTDP SSLRKHVKTV HGPDAHVTKK QRNDVHLRTP LLKENGDSEA GTEPGGPEST 310 320 330 340 350 360 EASSTSQAVE DCLHVRAIKT ESSGLCQSSP GAQSSCSSEP SPLGSAPNND SGVEMPGTGP 370 380 390 400 410 420 GSLGDLTALD DTPPGADTSA LAAPSAGGLQ LRKHMTTMHR FEQLKKEKLK SLKDSCSWAG 430 440 450 460 470 480 PTPHTRNTKL PPLPGSGSIL ENFSGSGGGG PAGLLPNPRL SELSASEVTM LSQLQERRDS 490 500 510 520 530 540 STSTVSSAYT VSRRSSGISP YFSSRRSSEA SPLGAGRPHN ASSADSYDPI STDASRRSSE 550 560 570 580 590 600 ASQCSGGSGL LNLTPAQQYS LRAKYAAATG GPPPTPLPGL ERMSLRTRLA LLDAPERTLP 610 620 630 640 650 660 AGCPRPLGPR RGSDGPTYGH GHAGAAPAFP HEAPGGGARR ASDPVRRPDA LSLPRVQRFH 670 680 690 700 710 720 STHNVNPGPL PPCADRRGLR LQSHPSTDGG LARGAYSPRP PSISENVAME AVAAGVDGAG 730 740 750 760 770 780 PEADLGLPED DLVLPDDVVQ YIKAHASGAL DEGTGQVYPT ESTGFSDNPR LPSPGLHGQR 790 800 810 820 RMVAADSNVG PSAPMLGGCQ LGFGAPSSLN KNNMPVQWNE ASATWLSGT
	Isoform Delta [UniParc]. Checksum: FE9721B04A860A5C	FASTA	812	86,482
	10 20 30 40 50 60 MALTSINATP TQLSSSSNCL SDTNQNKQSS ESAVSSTVNP VAIHKRSKVK TEPEGLRPAS 70 80 90 100 110 120 PLALTQEQLA DLKEDLDRDD CKQEAEVVIY ETNCHWEDCT KEYDTQEQLV HHINNEHIHG 130 140 150 160 170 180 EKKEFVCRWQ ACTREQKPFK AQYMLVVHMR RHTGEKPHKC TFEGCSKAYS RLENLKTHLR 190 200 210 220 230 240 SHTGEKPYVC EHEGCNKAFS NASDRAKHQN RTHSNEKPYI CKIPGCTKRY TDPSSLRKHV 250 260 270 280 290 300 KTVHGPDAHV TKKQRNDVHL RTPLLKENGD SEAGTEPGGP ESTEASSTSQ AVEDCLHVRA 310 320 330 340 350 360 IKTESSGLCQ SSPGAQSSCS SEPSPLGSAP NNDSGVEMPG TGPGSLGDLT ALDDTPPGAD 370 380 390 400 410 420 TSALAAPSAG GLQLRKHMTT MHRFEQLKKE KLKSLKDSCS WAGPTPHTRN TKLPPLPGSG 430 440 450 460 470 480 SILENFSGSG GGGPAGLLPN PRLSELSASE VTMLSQLQER RDSSTSTVSS AYTVSRRSSG 490 500 510 520 530 540 ISPYFSSRRS SEASPLGAGR PHNASSADSY DPISTDASRR SSEASQCSGG SGLLNLTPAQ 550 560 570 580 590 600 QYSLRAKYAA ATGGPPPTPL PGLERMSLRT RLALLDAPER TLPAGCPRPL GPRRGSDGPT 610 620 630 640 650 660 YGHGHAGAAP AFPHEAPGGG ARRASDPVRR PDALSLPRVQ RFHSTHNVNP GPLPPCADRR 670 680 690 700 710 720 GLRLQSHPST DGGLARGAYS PRPPSISENV AMEAVAAGVD GAGPEADLGL PEDDLVLPDD 730 740 750 760 770 780 VVQYIKAHAS GALDEGTGQV YPTESTGFSD NPRLPSPGLH GQRRMVAADS NVGPSAPMLG 790 800 810 GCQLGFGAPS SLNKNNMPVQ WNEASATWLS GT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of novel isoforms of the human Gli2 oncogene and their activities to enhance tax-dependent transcription of the human T-cell leukemia virus type 1 genome." Tanimura A., Dan S., Yoshida M. J. Virol. 72:3958-3964(1998) [PubMed: 9557682] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ALPHA; BETA; GAMMA AND DELTA), VARIANTS SER-1156 AND ASN-1306.
[2]	"A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2." Roessler E., Ermilov A.N., Grange D.K., Wang A., Grachtchouk M., Dlugosz A.A., Muenke M. Hum. Mol. Genet. 14:2181-2188(2005) [PubMed: 15994174] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5).
[3]	"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: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"A new regulatory element that augments the Tax-dependent enhancer of human T-cell leukemia virus type 1 and cloning of cDNAs encoding its binding proteins." Tanimura A., Teshima H., Fujisawa J., Yoshida M. J. Virol. 67:5375-5382(1993) [PubMed: 8350401] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-857 (ISOFORMS ALPHA; BETA; GAMMA AND DELTA).
[5]	"The GLI-Kruppel family of human genes." Ruppert J.M., Kinzler K.W., Wong A.J., Bigner S.H., Kao F.T., Law M.L., Seuanez H.N., O'Brien S.J., Vogelstein B. Mol. Cell. Biol. 8:3104-3113(1988) [PubMed: 2850480] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 456-560 (ISOFORMS ALPHA; BETA; GAMMA AND DELTA).
[6]	"Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features." Roessler E., Du Y.-Z., Mullor J.L., Casas E., Allen W.P., Gillessen-Kaesbach G., Roeder E.R., Ming J.E., Ruiz i Altaba A., Muenke M. Proc. Natl. Acad. Sci. U.S.A. 100:13424-13429(2003) [PubMed: 14581620] [Abstract] Cited for: INVOLVEMENT IN HPE9.
[7]	"Identification of a novel serine/threonine kinase ULK3 as a positive regulator of Hedgehog pathway." Maloverjan A., Piirsoo M., Michelson P., Kogerman P., Osterlund T. Exp. Cell Res. 316:627-637(2010) [PubMed: 19878745] [Abstract] Cited for: PHOSPHORYLATION.
[8]	"GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?" Rahimov F., Ribeiro L.A., de Miranda E., Richieri-Costa A., Murray J.C. Am. J. Med. Genet. A 140:2571-2576(2006) [PubMed: 17096318] [Abstract] Cited for: VARIANTS HPE9 GLY-479; SER-932; ILE-1444 AND LEU-1554.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB007295 mRNA. Translation: BAA25665.1. Frameshift. AB007296 mRNA. Translation: BAA25666.1. AB007297 mRNA. Translation: BAA25667.1. Frameshift. AB007298 mRNA. Translation: BAA25668.1. DQ086814 mRNA. Translation: AAY87165.1. AC016764 Genomic DNA. No translation available. AC017033 Genomic DNA. No translation available. D14827 mRNA. Translation: BAA03568.1. Frameshift. D14828 mRNA. Translation: BAA03569.1. Frameshift. M20672 Genomic DNA. No translation available. M20673 Genomic DNA. Translation: AAA35898.1.
IPI	IPI00018888. IPI00221102. IPI00332823. IPI00784005. IPI00914989.
PIR	A31201. A40679. B40679.
RefSeq	NP_005261.2. NM_005270.4.
UniGene	Hs.111867.
3D structure databases
ProteinModelPortal	P10070.
SMR	P10070. Positions 436-590.
ModBase	Search...
Protein-protein interaction databases
STRING	P10070.
PTM databases
PhosphoSite	P10070.
Polymorphism databases
DMDM	215274258.
Proteomic databases
PRIDE	P10070.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000361492; ENSP00000354586; ENSG00000074047. ENST00000452319; ENSP00000390436; ENSG00000074047.
GeneID	2736.
KEGG	hsa:2736.
UCSC	uc002tmq.1. human.
Organism-specific databases
CTD	2736.
GeneCards	GC02P121456.
HGNC	HGNC:4318. GLI2.
HPA	CAB008558.
MIM	165230. gene. 610829. phenotype.
neXtProt	NX_P10070.
Orphanet	93925. Alobar holoprosencephaly. 93924. Lobar holoprosencephaly. 93926. Midline interhemispheric variant of holoprosencephaly.
PharmGKB	PA28721.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG15009.
HOVERGEN	HBG005844.
OMA	IHMYEQN.
OrthoDB	EOG4V16ZZ.
PhylomeDB	P10070.
Enzyme and pathway databases
Pathway_Interaction_DB	hedgehog_glipathway. Hedgehog signaling events mediated by Gli proteins. hedgehog_2pathway. Signaling events mediated by the Hedgehog family.
Gene expression databases
ArrayExpress	P10070.
Bgee	P10070.
CleanEx	HS_GLI2.
Genevestigator	P10070.
GermOnline	ENSG00000074047. Homo sapiens.
Family and domain databases
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Gene3D	G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 4 hits.
KO	K06230.
Pfam	PF00096. zf-C2H2. 5 hits. [Graphical view]
SMART	SM00355. ZnF_C2H2. 5 hits. [Graphical view]
PROSITE	PS00028. ZINC_FINGER_C2H2_1. 4 hits. PS50157. ZINC_FINGER_C2H2_2. 4 hits. [Graphical view]
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

GLI2_HUMAN

Accession

Primary (citable) accession number: P10070
Secondary accession number(s): O60252 , O60253, O60254, O60255, Q15590, Q15591, Q4JHT4

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1989
Last sequence update:	November 25, 2008
Last modified:	January 25, 2012
This is version 125 of the entry and version 4 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.