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P10070

- GLI2_HUMAN

UniProt

P10070 - GLI2_HUMAN

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Protein

Zinc finger protein GLI2

Gene

GLI2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Has a dual function as a transcriptional activator and a repressor of the hedgehog (Hh) pathway. May play a role during embryogenesis.2 Publications
Isoform 1, isoform 2, isoform 3 and isoform 4: Act as transcriptional activators in T-cell leukemia virus type 1 (HTLV-1)-infected cells in a Tax-dependent manner. Bind to the DNA sequence 5'-GAACCACCCA-3' which is part of the Tax-responsive element (TRE-2S) regulatory element that augments the Tax-dependent enhancer of HTLV-1. Are involved in the smoothened (SHH) signaling pathway.3 Publications
Isoform 5: Acts as a transcriptional repressor.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri437 – 46428C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri475 – 49723C2H2-type 2; degeneratePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri503 – 52725C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri533 – 55826C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri564 – 58926C2H2-type 5PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. sequence-specific DNA binding Source: UniProtKB
  3. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  4. transcription regulatory region DNA binding Source: Ensembl
  5. zinc ion binding Source: UniProtKB

GO - Biological processi

  1. axon guidance Source: UniProtKB
  2. branching morphogenesis of an epithelial tube Source: UniProtKB
  3. cell proliferation Source: UniProtKB
  4. cellular response to organic cyclic compound Source: Ensembl
  5. cellular response to virus Source: UniProtKB
  6. cerebellar cortex morphogenesis Source: UniProtKB
  7. chondrocyte differentiation Source: Ensembl
  8. cochlea morphogenesis Source: Ensembl
  9. developmental growth Source: UniProtKB
  10. embryonic digestive tract development Source: UniProtKB
  11. embryonic digit morphogenesis Source: Ensembl
  12. epidermal cell differentiation Source: UniProtKB
  13. floor plate formation Source: UniProtKB
  14. head development Source: Ensembl
  15. heart development Source: UniProtKB
  16. hindbrain development Source: UniProtKB
  17. hindgut morphogenesis Source: UniProtKB
  18. in utero embryonic development Source: Ensembl
  19. kidney development Source: UniProtKB
  20. lung development Source: UniProtKB
  21. mammary gland development Source: UniProtKB
  22. mammary gland duct morphogenesis Source: Ensembl
  23. negative regulation of chondrocyte differentiation Source: Ensembl
  24. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  25. neuron development Source: UniProtKB
  26. notochord regression Source: Ensembl
  27. odontogenesis of dentin-containing tooth Source: UniProtKB
  28. osteoblast development Source: UniProtKB
  29. osteoblast differentiation Source: UniProtKB
  30. pattern specification process Source: UniProtKB
  31. pituitary gland development Source: UniProtKB
  32. positive regulation of DNA replication Source: UniProtKB
  33. positive regulation of neuron differentiation Source: Ensembl
  34. positive regulation of T cell differentiation in thymus Source: BHF-UCL
  35. positive regulation of transcription, DNA-templated Source: UniProtKB
  36. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  37. prostatic bud formation Source: Ensembl
  38. proximal/distal pattern formation Source: UniProtKB
  39. regulation of smoothened signaling pathway Source: Ensembl
  40. response to mechanical stimulus Source: Ensembl
  41. skeletal system development Source: UniProtKB
  42. smoothened signaling pathway Source: UniProtKB
  43. smoothened signaling pathway involved in dorsal/ventral neural tube patterning Source: Ensembl
  44. smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation Source: Ensembl
  45. smoothened signaling pathway involved in spinal cord motor neuron cell fate specification Source: Ensembl
  46. smoothened signaling pathway involved in ventral spinal cord interneuron specification Source: UniProtKB
  47. spinal cord dorsal/ventral patterning Source: UniProtKB
  48. spinal cord ventral commissure morphogenesis Source: UniProtKB
  49. transcription, DNA-templated Source: UniProtKB-KW
  50. tube development Source: UniProtKB
  51. ventral midline development Source: UniProtKB
  52. ventral spinal cord development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Activator, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

SignaLinkiP10070.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein GLI2Curated
Alternative name(s):
GLI family zinc finger protein 2Imported
Tax helper protein1 Publication
Gene namesi
Name:GLI2Imported
Synonyms:THP1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:4318. GLI2.

Subcellular locationi

Nucleus By similarity. Cytoplasm By similarity
Note: In keratinocytes, it is sequestered in the cytoplasm by SUFU. In the absence of SUFU, it translocates to the nucleus.By similarity
Isoform 1 : Nucleus 1 Publication
Isoform 2 : Nucleus 1 Publication

GO - Cellular componenti

  1. ciliary tip Source: Ensembl
  2. cytoplasm Source: UniProtKB-KW
  3. membrane Source: Ensembl
  4. motile primary cilium Source: Ensembl
  5. nuclear speck Source: Ensembl
  6. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Holoprosencephaly 9 (HPE9) [MIM:610829]: A 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. Holoprosencephaly type 9 is characterized by defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti479 – 4791R → G in HPE9. 1 Publication
VAR_032975
Natural varianti932 – 9321P → S in HPE9. 1 Publication
VAR_032976
Natural varianti1444 – 14441M → I in HPE9. 1 Publication
Corresponds to variant rs146467786 [ dbSNP | Ensembl ].
VAR_032977
Natural varianti1554 – 15541P → L in HPE9. 1 Publication
VAR_032978
Pallister-Hall syndrome 2 (PHS2) [MIM:615849]: An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti608 – 6081P → L in PHS2. 1 Publication
VAR_071700

Keywords - Diseasei

Disease mutation, Holoprosencephaly

Organism-specific databases

MIMi610829. phenotype.
615849. phenotype.
Orphaneti93925. Alobar holoprosencephaly.
95494. Combined pituitary hormone deficiencies, genetic forms.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBiPA28721.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 15861586Zinc finger protein GLI2PRO_0000354050Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei149 – 1491Phosphoserine1 Publication
Modified residuei234 – 2341Phosphoserine2 Publications
Modified residuei236 – 2361Phosphoserine2 Publications
Modified residuei242 – 2421Phosphoserine1 Publication
Modified residuei388 – 3881Phosphoserine; by DYRK21 Publication
Modified residuei725 – 7251PhosphothreonineBy similarity
Modified residuei757 – 7571N6-acetyllysine; by EP3001 Publication
Modified residuei1011 – 10111Phosphoserine; by DYRK21 Publication

Post-translational modificationi

Phosphorylated in vitro by ULK3. Phosphorylated by DYRK2; this inhibits GLI2 transcription factor activity and promotes proteasomal degradation of GLI2.4 Publications
Acetylation at Lys-757 inhibits Hh target gene expression, probably by impeding entry into chromatin thus preventing promoter occupancy.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP10070.
PaxDbiP10070.
PRIDEiP10070.

PTM databases

PhosphoSiteiP10070.

Expressioni

Tissue specificityi

Isoform 1 and isoform 4 are expressed in HTLV-1-infected T-cell lines (at protein level). Isoform 1 and isoform 2 are strongly expressed in HTLV-1-infected T-cell lines. Isoform 3 and isoform 4 are weakly expressed in HTLV-1-infected T-cell lines.1 Publication

Gene expression databases

BgeeiP10070.
CleanExiHS_GLI2.
ExpressionAtlasiP10070. baseline and differential.
GenevestigatoriP10070.

Organism-specific databases

HPAiCAB008558.

Interactioni

Subunit structurei

Interaction with ZIC. Interacts with SUFU.By similarity

Protein-protein interaction databases

BioGridi108998. 7 interactions.
STRINGi9606.ENSP00000354586.

Structurei

3D structure databases

ProteinModelPortaliP10070.
SMRiP10070. Positions 436-590.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi789 – 87688Ser-richAdd
BLAST

Sequence similaritiesi

Contains 5 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri437 – 46428C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri475 – 49723C2H2-type 2; degeneratePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri503 – 52725C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri533 – 55826C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri564 – 58926C2H2-type 5PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
GeneTreeiENSGT00760000118771.
HOVERGENiHBG005844.
InParanoidiP10070.
KOiK16798.
OMAiSYPQQSH.
OrthoDBiEOG7X6KZ8.
PhylomeDBiP10070.
TreeFamiTF350216.

Family and domain databases

Gene3Di3.30.160.60. 5 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 2 hits.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 5 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 5 (identifier: P10070-5) [UniParc]FASTAAdd to Basket

Also known as: GLI21 Publication

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.

« Hide

        10         20         30         40         50
METSASATAS EKQEAKSGIL EAAGFPDPGK KASPLVVAAA AAAAVAAQGV
60 70 80 90 100
PQHLLPPFHA PLPIDMRHQE GRYHYEPHSV HGVHGPPALS GSPVISDISL
110 120 130 140 150
IRLSPHPAGP GESPFNAPHP YVNPHMEHYL RSVHSSPTLS MISAARGLSP
160 170 180 190 200
ADVAQEHLKE RGLFGLPAPG TTPSDYYHQM TLVAGHPAPY GDLLMQSGGA
210 220 230 240 250
ASAPHLHDYL NPVDVSRFSS PRVTPRLSRK RALSISPLSD ASLDLQRMIR
260 270 280 290 300
TSPNSLVAYI NNSRSSSAAS GSYGHLSAGA LSPAFTFPHP INPVAYQQIL
310 320 330 340 350
SQQRGLGSAF GHTPPLIQPS PTFLAQQPMA LTSINATPTQ LSSSSNCLSD
360 370 380 390 400
TNQNKQSSES AVSSTVNPVA IHKRSKVKTE PEGLRPASPL ALTQGQVSGH
410 420 430 440 450
GSCGCALPLS QEQLADLKED LDRDDCKQEA EVVIYETNCH WEDCTKEYDT
460 470 480 490 500
QEQLVHHINN EHIHGEKKEF VCRWQACTRE QKPFKAQYML VVHMRRHTGE
510 520 530 540 550
KPHKCTFEGC SKAYSRLENL KTHLRSHTGE KPYVCEHEGC NKAFSNASDR
560 570 580 590 600
AKHQNRTHSN EKPYICKIPG CTKRYTDPSS LRKHVKTVHG PDAHVTKKQR
610 620 630 640 650
NDVHLRTPLL KENGDSEAGT EPGGPESTEA SSTSQAVEDC LHVRAIKTES
660 670 680 690 700
SGLCQSSPGA QSSCSSEPSP LGSAPNNDSG VEMPGTGPGS LGDLTALDDT
710 720 730 740 750
PPGADTSALA APSAGGLQLR KHMTTMHRFE QLKKEKLKSL KDSCSWAGPT
760 770 780 790 800
PHTRNTKLPP LPGSGSILEN FSGSGGGGPA GLLPNPRLSE LSASEVTMLS
810 820 830 840 850
QLQERRDSST STVSSAYTVS RRSSGISPYF SSRRSSEASP LGAGRPHNAS
860 870 880 890 900
SADSYDPIST DASRRSSEAS QCSGGSGLLN LTPAQQYSLR AKYAAATGGP
910 920 930 940 950
PPTPLPGLER MSLRTRLALL DAPERTLPAG CPRPLGPRRG SDGPTYGHGH
960 970 980 990 1000
AGAAPAFPHE APGGGARRAS DPVRRPDALS LPRVQRFHST HNVNPGPLPP
1010 1020 1030 1040 1050
CADRRGLRLQ SHPSTDGGLA RGAYSPRPPS ISENVAMEAV AAGVDGAGPE
1060 1070 1080 1090 1100
ADLGLPEDDL VLPDDVVQYI KAHASGALDE GTGQVYPTES TGFSDNPRLP
1110 1120 1130 1140 1150
SPGLHGQRRM VAADSNVGPS APMLGGCQLG FGAPSSLNKN NMPVQWNEVS
1160 1170 1180 1190 1200
SGTVDALASQ VKPPPFPQGN LAVVQQKPAF GQYPGYSPQG LQASPGGLDS
1210 1220 1230 1240 1250
TQPHLQPRSG APSQGIPRVN YMQQLRQPVA GSQCPGMTTT MSPHACYGQV
1260 1270 1280 1290 1300
HPQLSPSTIS GALNQFPQSC SNMPAKPGHL GHPQQTEVAP DPTTMGNRHR
1310 1320 1330 1340 1350
ELGVPDSALA GVPPPHPVQS YPQQSHHLAA SMSQEGYHQV PSLLPARQPG
1360 1370 1380 1390 1400
FMEPQTGPMG VATAGFGLVQ PRPPLEPSPT GRHRGVRAVQ QQLAYARATG
1410 1420 1430 1440 1450
HAMAAMPSSQ ETAEAVPKGA MGNMGSVPPQ PPPQDAGGAP DHSMLYYYGQ
1460 1470 1480 1490 1500
IHMYEQDGGL ENLGSCQVMR SQPPQPQACQ DSIQPQPLPS PGVNQVSSTV
1510 1520 1530 1540 1550
DSQLLEAPQI DFDAIMDDGD HSSLFSGALS PSLLHSLSQN SSRLTTPRNS
1560 1570 1580
LTLPSIPAGI SNMAVGDMSS MLTSLAEESK FLNMMT
Length:1,586
Mass (Da):167,783
Last modified:November 25, 2008 - v4
Checksum:i86556112E13DE106
GO
Isoform 1 (identifier: P10070-1) [UniParc]FASTAAdd to Basket

Also known as: Alpha, GLI2star, GLI2deltaN2 Publications

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

Show »
Length:1,258
Mass (Da):133,241
Checksum:i0240AD781CDAB1CB
GO
Isoform 2 (identifier: P10070-2) [UniParc]FASTAAdd to Basket

Also known as: Beta1 Publication

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

Show »
Length:1,241
Mass (Da):131,659
Checksum:iCAD32033BE131937
GO
Isoform 3 (identifier: P10070-3) [UniParc]FASTAAdd to Basket

Also known as: Gamma1 Publication

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

Show »
Length:829
Mass (Da):88,065
Checksum:iFBCD29D12CFCC01C
GO
Isoform 4 (identifier: P10070-4) [UniParc]FASTAAdd to Basket

Also known as: Delta1 Publication

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.

Show »
Length:812
Mass (Da):86,482
Checksum:iFE9721B04A860A5C
GO

Sequence cautioni

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.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti456 – 4561H → Q in M20672. (PubMed:2850480)Curated
Sequence conflicti718 – 7192QL → HV in BAA03568. (PubMed:8350401)Curated
Sequence conflicti718 – 7192QL → HV in BAA03569. (PubMed:8350401)Curated
Sequence conflicti923 – 9253PER → AEG in BAA25665. (PubMed:9557682)Curated
Sequence conflicti923 – 9253PER → AEG in BAA25667. (PubMed:9557682)Curated
Sequence conflicti923 – 9253PER → AEG in BAA25666. (PubMed:9557682)Curated
Sequence conflicti923 – 9253PER → AEG in BAA25668. (PubMed:9557682)Curated
Sequence conflicti966 – 9661A → T in BAA25665. (PubMed:9557682)Curated
Sequence conflicti966 – 9661A → T in BAA25667. (PubMed:9557682)Curated
Sequence conflicti966 – 9661A → T in BAA25666. (PubMed:9557682)Curated
Sequence conflicti966 – 9661A → T in BAA25668. (PubMed:9557682)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti449 – 4491D → H.
Corresponds to variant rs13427953 [ dbSNP | Ensembl ].
VAR_047303
Natural varianti479 – 4791R → G in HPE9. 1 Publication
VAR_032975
Natural varianti579 – 5791S → I.
Corresponds to variant rs12618388 [ dbSNP | Ensembl ].
VAR_047304
Natural varianti608 – 6081P → L in PHS2. 1 Publication
VAR_071700
Natural varianti625 – 6251P → S.
Corresponds to variant rs3099537 [ dbSNP | Ensembl ].
VAR_047305
Natural varianti932 – 9321P → S in HPE9. 1 Publication
VAR_032976
Natural varianti1156 – 11561A → S.1 Publication
Corresponds to variant rs3738880 [ dbSNP | Ensembl ].
VAR_047306
Natural varianti1306 – 13061D → N.1 Publication
Corresponds to variant rs12711538 [ dbSNP | Ensembl ].
VAR_047307
Natural varianti1444 – 14441M → I in HPE9. 1 Publication
Corresponds to variant rs146467786 [ dbSNP | Ensembl ].
VAR_032977
Natural varianti1554 – 15541P → L in HPE9. 1 Publication
VAR_032978

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 328328Missing in isoform 1, isoform 2, isoform 3 and isoform 4. 2 PublicationsVSP_035708Add
BLAST
Alternative sequencei394 – 41017Missing in isoform 2 and isoform 4. 2 PublicationsVSP_006877Add
BLAST
Alternative sequencei1149 – 11579VSSGTVDAL → ASATWLSGT in isoform 3 and isoform 4. 2 PublicationsVSP_006878
Alternative sequencei1158 – 1586429Missing in isoform 3 and isoform 4. 2 PublicationsVSP_006879Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS33283.1. [P10070-5]
PIRiA31201.
A40679.
B40679.
RefSeqiNP_005261.2. NM_005270.4. [P10070-5]
UniGeneiHs.111867.

Genome annotation databases

EnsembliENST00000361492; ENSP00000354586; ENSG00000074047. [P10070-5]
ENST00000452319; ENSP00000390436; ENSG00000074047. [P10070-5]
GeneIDi2736.
KEGGihsa:2736.
UCSCiuc002tmq.1. human. [P10070-3]
uc002tmr.1. human. [P10070-4]
uc002tmt.4. human. [P10070-5]
uc002tmu.4. human. [P10070-2]

Polymorphism databases

DMDMi215274258.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS33283.1. [P10070-5 ]
PIRi A31201.
A40679.
B40679.
RefSeqi NP_005261.2. NM_005270.4. [P10070-5 ]
UniGenei Hs.111867.

3D structure databases

ProteinModelPortali P10070.
SMRi P10070. Positions 436-590.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108998. 7 interactions.
STRINGi 9606.ENSP00000354586.

Chemistry

BindingDBi P10070.
ChEMBLi CHEMBL5119.

PTM databases

PhosphoSitei P10070.

Polymorphism databases

DMDMi 215274258.

Proteomic databases

MaxQBi P10070.
PaxDbi P10070.
PRIDEi P10070.

Protocols and materials databases

DNASUi 2736.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361492 ; ENSP00000354586 ; ENSG00000074047 . [P10070-5 ]
ENST00000452319 ; ENSP00000390436 ; ENSG00000074047 . [P10070-5 ]
GeneIDi 2736.
KEGGi hsa:2736.
UCSCi uc002tmq.1. human. [P10070-3 ]
uc002tmr.1. human. [P10070-4 ]
uc002tmt.4. human. [P10070-5 ]
uc002tmu.4. human. [P10070-2 ]

Organism-specific databases

CTDi 2736.
GeneCardsi GC02P121495.
GeneReviewsi GLI2.
HGNCi HGNC:4318. GLI2.
HPAi CAB008558.
MIMi 165230. gene.
610829. phenotype.
615849. phenotype.
neXtProti NX_P10070.
Orphaneti 93925. Alobar holoprosencephaly.
95494. Combined pituitary hormone deficiencies, genetic forms.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBi PA28721.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5048.
GeneTreei ENSGT00760000118771.
HOVERGENi HBG005844.
InParanoidi P10070.
KOi K16798.
OMAi SYPQQSH.
OrthoDBi EOG7X6KZ8.
PhylomeDBi P10070.
TreeFami TF350216.

Enzyme and pathway databases

SignaLinki P10070.

Miscellaneous databases

GeneWikii GLI2.
GenomeRNAii 2736.
NextBioi 10784.
PROi P10070.
SOURCEi Search...

Gene expression databases

Bgeei P10070.
CleanExi HS_GLI2.
ExpressionAtlasi P10070. baseline and differential.
Genevestigatori P10070.

Family and domain databases

Gene3Di 3.30.160.60. 5 hits.
InterProi IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
Pfami PF00096. zf-C2H2. 2 hits.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 5 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), FUNCTION, DNA-BINDING, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), FUNCTION, INVOLVEMENT IN PHS2.
  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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-857 (ISOFORMS 1; 2; 3 AND 4).
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 456-560 (ISOFORMS 1; 2; 3 AND 4).
  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] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN HPE9.
  7. "Application of active and kinase-deficient kinome collection for identification of kinases regulating hedgehog signaling."
    Varjosalo M., Bjorklund M., Cheng F., Syvanen H., Kivioja T., Kilpinen S., Sun Z., Kallioniemi O., Stunnenberg H.G., He W.W., Ojala P., Taipale J.
    Cell 133:537-548(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, PHOSPHORYLATION AT SER-388 AND SER-1011.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-234 AND SER-236, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "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] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION.
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-149; SER-234; SER-236 AND SER-242, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "Gli2 acetylation at lysine 757 regulates hedgehog-dependent transcriptional output by preventing its promoter occupancy."
    Coni S., Antonucci L., D'Amico D., Di Magno L., Infante P., De Smaele E., Giannini G., Di Marcotullio L., Screpanti I., Gulino A., Canettieri G.
    PLoS ONE 8:E65718-E65718(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION AT LYS-757.
  12. "Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly."
    Franca M.M., Jorge A.A., Carvalho L.R., Costalonga E.F., Vasques G.A., Leite C.C., Mendonca B.B., Arnhold I.J.
    J. Clin. Endocrinol. Metab. 95:E384-E391(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT BY HPE9, INVOLVEMENT IN PHS2, VARIANT PHS2 LEU-608.
  13. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS HPE9 GLY-479; SER-932; ILE-1444 AND LEU-1554.

Entry informationi

Entry nameiGLI2_HUMAN
AccessioniPrimary (citable) accession number: P10070
Secondary accession number(s): O60252
, O60253, O60254, O60255, Q15590, Q15591, Q4JHT4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: November 25, 2008
Last modified: October 29, 2014
This is version 155 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3