Version 5.4
Homo sapiens Protein: GCM2
Summary
InnateDB Protein IDBP-61422.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GCM2
Protein Name glial cells missing homolog 2 (Drosophila)
Synonyms GCMB; hGCMb;
Species Homo sapiens
Ensembl Protein ENSP00000368805
InnateDB Gene IDBG-61420 (GCM2)
Protein Structure
UniProt Annotation
Function Probable transcriptional regulator.
Subcellular Localization Nucleus {ECO:0000255PROSITE- ProRule:PRU00245}.
Disease Associations Hypoparathyroidism, familial isolated (FIH) [MIM:146200]: A disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps. {ECO:0000269PubMed:15728199, ECO:0000269PubMed:15863676, ECO:0000269PubMed:20190276, ECO:0000269PubMed:20463099, ECO:0000269Ref.3}. 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 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006874 cellular calcium ion homeostasis
GO:0007275 multicellular organismal development
GO:0030154 cell differentiation
GO:0030643 cellular phosphate ion homeostasis
GO:0043066 negative regulation of apoptotic process
GO:0060017 parathyroid gland development
GO:0071310 cellular response to organic substance
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR003902 Transcription regulator GCM domain
PFAM PF03615
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O75603
PhosphoSite PhosphoSite-O75603
TrEMBL
UniProt Splice Variant
Entrez Gene 9247
UniGene Hs.227098
RefSeq NP_004743
HUGO HGNC:4198
OMIM 603716
CCDS CCDS4517
HPRD 04758
IMGT
EMBL AF079550 AF091149 AL024498 AL357497 BC069603 BC117316 BC117318 CH471087 FJ655849
GenPept AAC33792 AAC98097 AAH69603 AAI17317 AAI17319 ACV69998 CAI16225 CAI20518 EAW55287

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca