| Gene Symbol |
HORMAD2
|
| Entrez Gene |
150280
|
| Alt Symbol |
CT46.2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
HORMA domain containing 2
|
| Other Description |
HORMA domain-containing protein 2
|
| Swissprots |
Q8N7B1 Q8NHR2 B5MEB2
|
| Accessions |
CAN59692 EAW59859 EAW59860 Q8N7B1 AK098703 BAC05388 BC030013 AAH30013 CR456341 CAG30227 CU013052 CAK54483 CU013340 CAK54782 XM_006724147 XP_006724210 XM_011529913 XP_011528215 XM_011529914 XP_011528216 XM_011529915 XP_011528217 XM_011529916 XP_011528218 XM_011529917 XP_011528219 XM_011529918 XP_011528220 XM_011529919 XP_011528221 NM_152510 NP_689723
|
| 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 Location |
Nucleus {ECO:0000269|PubMed: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}.
|
| 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:0000269|PubMed:15999985, ECO:0000269|PubMed:22893617}.
|