InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GLI2

Summary

InnateDB Protein

IDBP-68274.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GLI2

Protein Name

GLI family zinc finger 2

Synonyms

HPE9; PHS2; THP1; THP2;

Species

Homo sapiens

Ensembl Protein

ENSP00000312694

InnateDB Gene

IDBG-68270 (GLI2)

Protein Structure

UniProt Annotation

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. Is involved in the smoothened (SHH) signaling pathway. {ECO:0000269PubMed:18455992}.

Subcellular Localization

Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=In keratinocytes, it is sequestered in the cytoplasm by SUFU. In the absence of SUFU, it translocates to the nucleus (By similarity). {ECO:0000250}.

Disease Associations

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. {ECO:0000269PubMed:14581620, ECO:0000269PubMed:17096318}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	20 [view]
Protein-Protein	11 [view]
Protein-DNA	9 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0043565	sequence-specific DNA binding
GO:0046872	metal ion binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001501	skeletal system development
GO:0001649	osteoblast differentiation
GO:0001822	kidney development
GO:0002076	osteoblast development
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007224	smoothened signaling pathway
GO:0007389	pattern specification process
GO:0007411	axon guidance
GO:0007418	ventral midline development
GO:0007442	hindgut morphogenesis
GO:0007507	heart development
GO:0008283	cell proliferation
GO:0009913	epidermal cell differentiation
GO:0009954	proximal/distal pattern formation
GO:0021508	floor plate formation
GO:0021513	spinal cord dorsal/ventral patterning
GO:0021517	ventral spinal cord development
GO:0021696	cerebellar cortex morphogenesis
GO:0021775	smoothened signaling pathway involved in ventral spinal cord interneuron specification
GO:0021965	spinal cord ventral commissure morphogenesis
GO:0021983	pituitary gland development
GO:0030324	lung development
GO:0030879	mammary gland development
GO:0030902	hindbrain development
GO:0033089	positive regulation of T cell differentiation in thymus
GO:0035295	tube development
GO:0042475	odontogenesis of dentin-containing tooth
GO:0045740	positive regulation of DNA replication
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048566	embryonic digestive tract development
GO:0048589	developmental growth
GO:0048666	neuron development
GO:0048754	branching morphogenesis of an epithelial tube