Property Summary

NCBI Gene PubMed Count 24
Grant Count 6
R01 Count 2
Funding $743,712.33
PubMed Score 28.76
PubTator Score 32.23

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (24)

Disease log2 FC p
Rheumatoid Arthritis 1.200 0.027
gastric cancer -1.700 0.002
pancreatic cancer -1.600 0.008
malignant mesothelioma 1.100 0.000
astrocytic glioma 1.100 0.008
ependymoma 1.400 0.002
cutaneous lupus erythematosus 1.400 0.002
psoriasis 1.100 0.001
osteosarcoma -1.756 0.000
medulloblastoma 1.500 0.000
atypical teratoid / rhabdoid tumor 1.800 0.001
glioblastoma 1.600 0.002
medulloblastoma, large-cell 1.700 0.000
primitive neuroectodermal tumor 1.500 0.003
intraductal papillary-mucinous neoplasm ... 1.100 0.013
Multiple Sclerosis 1.100 0.000
pediatric high grade glioma 1.100 0.007
primary Sjogren syndrome 1.400 0.000
pancreatic carcinoma -1.600 0.008
invasive ductal carcinoma 1.075 0.027
Pick disease -1.200 0.000
progressive supranuclear palsy -1.500 0.006
ovarian cancer 1.300 0.001
pituitary cancer 1.100 0.001

Gene RIF (15)

PMID Text
26485182 This study demonstrated that the the linkage peak revealed a variant (rs574972) within an intron of the gene SMCHD1 is linkaged to major depression in Mexican Americans.
26446085 This approach was successfully employed in the context of the in silico prediction of potential remotely acting regulatory elements for the SMCHD1 gene. Subsequent sequencing of these predicted regions identified three sequence variants in FSHD patients
26391951 An indirect interaction mediated by the LRIF1 and HP1 proteins loads SMCHD1 onto chromatin marked by trimethylation of histone H3 lysine 9 (H3K9me3).
26356006 In the case of FSHD1, a contraction of the D4Z4 repeat array is disease causing whereas FSHD2 is most often caused by mutations in the structural maintenance of chromosomes hinge domain 1 (SMCHD1) gene.
25820463 Two facioscapulohumeral muscular dystrophy type 2 families with a 1.2-Mb deletion encompassing the SMCHD1 gene are described; they have only one copy of SMCHD1.
25782668 The synergistic effect has been demonstrated of two SMCHD1 variants on D4Z4 hypomethylation site and disease penetrance in facioscapulohumeral muscular dystrophy-2 patients.
25370034 findings confirm the role of SMCHD1 mutations in FSHD2 and as a modifier of disease severity.
25294876 SMCHD1 recruitment to DNA damage foci is regulated by 53BP1.
24818964 SmcHD1 is an important regulator of imprinted and clustered genes
24128691 study reports a novel mutation p.Lys275del in SMCHD1 in a family with facioscapulohumeral muscular dystrophy 2; conclude that the SMCHD1 mutation is the likely cause of the disease in this family
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AA Sequence

MAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEE      1 - 70
KFVITTTSRKEITCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNP     71 - 140
LPFALAELIDNSLSATSRNIGVRRIQIKLLFDETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGD    141 - 210
FESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDVHELVLSKEDFEKKEKNKE    211 - 280
AIYSGYIRNRKPSDSVHITNDDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIY    281 - 350
HYYIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGD    351 - 420
GVVEGIIRYHPFLYDRETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFD    421 - 490
WCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFA    491 - 560
LWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLPLFYGSIVR    561 - 630
FFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEG    631 - 700
DELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGG    701 - 770
KWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVP    771 - 840
FNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPG    841 - 910
LKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPV    911 - 980
YVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAI    981 - 1050
QIKHQDEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKD   1051 - 1120
MRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSS   1121 - 1190
LSSLSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLI   1191 - 1260
DWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRANLGVF   1261 - 1330
SVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGLFTDFMISVISEDDS   1331 - 1400
IIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDK   1401 - 1470
TNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIAT   1471 - 1540
IKGSNEEDTDTPLFIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILP   1541 - 1610
FMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIP   1611 - 1680
TTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLASDMD   1681 - 1750
CVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNV   1751 - 1820
EHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGLQNKAPPMDKLRGMV   1821 - 1890
FGAPVPKQCLILGEQIDLLQQYRSAVCKLDSVNKDLNSQLEYLRTPDMRKKKQELDEHEKNLKLIEEKLG   1891 - 1960
MTPIRKCNDSLRHSPKVETTDCPVPPKRMRREATRQNRIITKTDV                            1961 - 2005
//

Text Mined References (32)

PMID Year Title
26485182 2016 Recurrent major depression and right hippocampal volume: A bivariate linkage and association study.
26446085 2015 Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.
26391951 2015 Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome.
26356006 2015 Genetic and epigenetic contributors to FSHD.
25820463 2015 Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.
25782668 2016 Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.
25370034 2015 Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
25294876 2014 Structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) promotes non-homologous end joining and inhibits homologous recombination repair upon DNA damage.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
24818964 2014 Epigenetic characterization of the growth hormone gene identifies SmcHD1 as a regulator of autosomal gene clusters.
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