| Tag | Content |
|---|---|
| Uniprot ID | Q9Y6X9; B2RNB1; Q9UF28; Q9Y6V2; |
| Entrez ID | 22880 |
| Genbank protein ID | CAB63760.1; AAH19257.3; AAC12954.1; BAA74875.2; AAI36783.1; CAG30355.1; EAW59921.1; |
| Genbank nucleotide ID | XM_017028668.1; NM_001303257.2; NM_001303256.2; NM_014941.3; |
| Ensembl protein ID | ENSP00000215862; ENSP00000380763; |
| Ensembl nucleotide ID | ENSG00000133422 |
| Gene name | ATPase MORC2 |
| Gene symbol | MORC2 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Essential for epigenetic silencing by the HUSH (human silencing hub) complex. Recruited by HUSH to target site in heterochromatin, the ATPase activity and homodimerization are critical for HUSH-mediated silencing (PubMed:28581500, PubMed:29440755). Represses germ cell-related genes and L1 retrotransposons in collaboration with SETDB1 and the HUSH complex, the silencing is dependent of repressive epigenetic modifications, such as H3K9me3 mark. Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression (PubMed:29211708). During DNA damage response, regulates chromatin remodeling through ATP hydrolysis. Upon DNA damage, is phosphorylated by PAK1, both colocalize to chromatin and induce H2AX expression. ATPase activity is required and dependent of phosphorylation by PAK1 and presence of DNA (PubMed:23260667). Recruits histone deacetylases, such as HDAC4, to promoter regions, causing local histone H3 deacetylation and transcriptional repression of genes such as CA9 (PubMed:20225202, PubMed:20110259). Exhibits a cytosolic function in lipogenesis, adipogenic differentiation, and lipid homeostasis by increasing the activity of ACLY, possibly preventing its dephosphorylation (PubMed:24286864). |
| Sequence | MAFTNYSSLN RAQLTFEYLH TNSTTHEFLF GALAELVDNA RDADATRIDI YAERREDLRG 60 GFMLCFLDDG AGMDPSDAAS VIQFGKSAKR TPESTQIGQY GNGLKSGSMR IGKDFILFTK 120 KEDTMTCLFL SRTFHEEEGI DEVIVPLPTW NARTREPVTD NVEKFAIETE LIYKYSPFRT 180 EEEVMTQFMK IPGDSGTLVI IFNLKLMDNG EPELDIISNP RDIQMAETSP EGTKPERRSF 240 RAYAAVLYID PRMRIFIHGH KVQTKRLSCC LYKPRMYKYT SSRFKTRAEQ EVKKAEHVAR 300 IAEEKAREAE SKARTLEVRL GGDLTRDSRV MLRQVQNRAI TLRREADVKK RIKEAKQRAL 360 KEPKELNFVF GVNIEHRDLD GMFIYNCSRL IKMYEKVGPQ LEGGMACGGV VGVVDVPYLV 420 LEPTHNKQDF ADAKEYRHLL RAMGEHLAQY WKDIAIAQRG IIKFWDEFGY LSANWNQPPS 480 SELRYKRRRA MEIPTTIQCD LCLKWRTLPF QLSSVEKDYP DTWVCSMNPD PEQDRCEASE 540 QKQKVPLGTF RKDMKTQEEK QKQLTEKIRQ QQEKLEALQK TTPIRSQADL KKLPLEVTTR 600 PSTEEPVRRP QRPRSPPLPA VIRNAPSRPP SLPTPRPASQ PRKAPVISST PKLPALAARE 660 EASTSRLLQP PEAPRKPANT LVKTASRPAP LVQQLSPSLL PNSKSPREVP SPKVIKTPVV 720 KKTESPIKLS PATPSRKRSV AVSDEEEVEE EAERRKERCK RGRFVVKEEK KDSNELSDSA 780 GEEDSADLKR AQKDKGLHVE VRVNREWYTG RVTAVEVGKH VVRWKVKFDY VPTDTTPRDR 840 WVEKGSEDVR LMKPPSPEHQ SLDTQQEGGE EEVGPVAQQA IAVAEPSTSE CLRIEPDTTA 900 LSTNHETIDL LVQILRNCLR YFLPPSFPIS KKQLSAMNSD ELISFPLKEY FKQYEVGLQN 960 LCNSYQSRAD SRAKASEESL RTSERKLRET EEKLQKLRTN IVALLQKVQE DIDINTDDEL 1020 DAYIEDLITK GD 1032 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.