Version 5.4
Homo sapiens Protein: HORMAD2
Summary
InnateDB Protein IDBP-294606.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HORMAD2
Protein Name HORMA domain containing 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000385055
InnateDB Gene IDBG-3959 (HORMAD2)
Protein Structure
UniProt Annotation
Function Essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes. Required for the DNA double-strand break-independent, BRCA1-dependent activation of ATR on the sex chromosomes that is essential for normal sex body formation (By similarity). {ECO:0000250}.
Subcellular Localization Nucleus {ECO:0000269PubMed:22893617}. Chromosome {ECO:0000250}. Note=Preferentially localizes to unsynapsed or desynapsed chromosomal regions during the male and female prophase I stage of meiosis. TRIP13 is required for depletion from synapsed chromosomes (By similarity). {ECO:0000250}.
Disease Associations
Tissue Specificity Highly expressed in testis (at protein level). Expressed in lung adenocarcinoma and squamous cell carcinoma (at protein level). Expressed at lower levels in the liver, brain and kidney. {ECO:0000269PubMed:15999985, ECO:0000269PubMed:22893617}.
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
Biological Process
GO:0007126 meiotic nuclear division
GO:0051177 meiotic sister chromatid cohesion
Cellular Component
GO:0005634 nucleus
GO:0005694 chromosome
Protein Structure and Domains
PDB ID
InterPro IPR003511 DNA-binding HORMA
PFAM PF02301
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8N7B1
PhosphoSite PhosphoSite-Q8N7B1
TrEMBL
UniProt Splice Variant
Entrez Gene 150280
UniGene Hs.609045
RefSeq
HUGO HGNC:28383
OMIM
CCDS CCDS46683
HPRD 13668
IMGT
EMBL AC002378 AC003071 AK098703 BC030013 CH471095 CR456341
GenPept AAH30013 BAC05388 CAG30227 EAW59860

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