Property Summary

NCBI Gene PubMed Count 78
PubMed Score 39.16
PubTator Score 46.43

Knowledge Summary

Patent

No data available

Gene RIF (39)

PMID Text
26366535 In the first published genome-wide association study of postburn hypertrophic scarring (HTS), we report that a common intronic variant in the CSMD1 gene is associated with reduced severity of postburn HTS.
26076954 Loss of heterozygosity at D8S262 and down-regulation of CSMD1 expression may be early events in hepatocarcinogenesis.
25845235 The associations of rs2616984 in CSMD1 gene, putative associations of rs3131296 in NOTCH4 gene, and associations of rs2229741 of NRIP1 gene with Alzheimer's disease have been found in a Russian population.
25695618 This exploratory study reports two plausible loci associated with systolic blood pressure response to hydrochlorothiazide: TET2, an aldosterone-responsive mediator of alphaENaC gene transcription; and CSMD1, previously described as associated with hypertension in a case-control study.
25057126 A SNP within CSMD1 associated with variation in the potential osteoarthritis biomarker uCTX-II levels with borderline genome-wide significance.
24630139 Results underline the relevance of the risk "A" allele to neurocognitive functioning and suggest that its detrimental effects on cognition, may be part of the mechanism by which the CSMD1 mediates risk for schizophrenia
24408017 CSMD1 and CSMD2 expressions were associated with overall survival
24387768 role of CSMD1 and SYNE1 in the etiology of bipolar disorder
23964079 CSMD1 inhibits complement by promoting factor I-mediated C4b/C3b degradation and inhibition of membrane attack complex assembly.
23839771 Single nucleotide polymorphism rs10503253 within the CSMD1 gene is associated with cognition disorder in schizophrenia.
23541940 TNIP1/ANXA6 and CSMD1 variants interacting with cigarette smoking and alcohol intake affect risk of psoriasis.
23505554 CSMD1 alterations can correlate with earlier clinical presentation in colorectal tumors, thus further implicating CSMD1 as a tumor suppressor gene.
23320435 CSMD1 schizophrenia risk 'A' allele at rs10503253 is associated with impaired cognition and memory function, but not attentinal control.
22538441 results confirm the role of CSDM1 as a tumor suppressor gene in melanoma cells; study also found that CSMD1 can interact with Smad3, activate Smad1, Smad2, and Smad3, and increase the expression of Smad4
21439553 data demonstrate a significant role of complement control-related genes in the etiology of schizophrenia.
20953187 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20944657 Observational study of gene-disease association. (HuGE Navigator)
20610895 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20200978 Observational study of gene-disease association. (HuGE Navigator)
19960030 Consistent genetic factors for ATP2B1, CSK, ARSG and CSMD1 were present, which have been shown to be associated with high blood pressure and hypertension in two Korean cohorts.
19960030 Observational study of gene-disease association. (HuGE Navigator)
19669408 Reduction of CSMD1 expression significantly associated with high tumour grade and decreased overall survival in invasive ductal breast carcinoma
19383911 Observational study of gene-disease association. (HuGE Navigator)
19276661 Characterization of CSMD1 in a large set of primary lung, head and neck, breast, and skin cancer tissues is reported.
19240061 Observational study of gene-disease association. (HuGE Navigator)
19132087 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18614856 CSMD1 mutations may play a role in the development of colorectal cancer.
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16547280 CSMD1 protein blocks activation of the classical complement pathway
16421571 The region around CSMD1 has the highest sequence diversity between humans and the highest sequence divergance between humans and chimps in the genome.
16221525 CSMD1 is located within fragile site FRA8B.
16203795 BAC microarray-CGH detects homozygous deletion of CSMD1 in human bladder cancer specimens
16153303 CSMD1 expression is aberrant in most SCC cell lines. Reduced expression is associated with methylation of a specific region of the promoter. Other defects include loss of specific exons during splicing and activation of cryptic promoters.
15138198 CSMD1 expression is markedly decreased in high stage prostatic adenocarcinomas
14506705 Previously reported apparent homozygous deletions wholly contained within CSMD1 introns are a PCR artifact caused by SNPs within the primer sequences. The allele remaining after LOH can't be amplified by these primers.
12906867 CSMD1 protein domain structure and the sequence of the cytoplasmic tail are highly conserved between mammals and fish
12874026 CSMD1 is a member of a suite of genes whose downregulation is predictive of prostate cancer relapse
12696061 Simple inactivation of CSMD1 may not explain the deletions observed in oropharyngeal squamous cell carcinoma and may call into question the role of this gene in head and neck carcinogenesis.

AA Sequence

MTAWRRFQSLLLLLGLLVLCARLLTAAKGQNCGGLVQGPNGTIESPGFPHGYPNYANCTWIIITGERNRI      1 - 70
QLSFHTFALEENFDILSVYDGQPQQGNLKVRLSGFQLPSSIVSTGSILTLWFTTDFAVSAQGFKALYEVL     71 - 140
PSHTCGNPGEILKGVLHGTRFNIGDKIRYSCLPGYILEGHAILTCIVSPGNGASWDFPAPFCRAEGACGG    141 - 210
TLRGTSSSISSPHFPSEYENNADCTWTILAEPGDTIALVFTDFQLEEGYDFLEISGTEAPSIWLTGMNLP    211 - 280
SPVISSKNWLRLHFTSDSNHRRKGFNAQFQVKKAIELKSRGVKMLPSKDGSHKNSVLSQGGVALVSHMCL    281 - 350
DPGIPENGRRAGSDFSRVGANVQFSCEDNYVLQGSKSITCQRVTETLAAWSDHRPICRARTCGSNLRGPS    351 - 420
GVITSPNYPVQYEDNAHCVWVITTTDPDKVIKLAFEEFELERGYDTLTVGDAGKVGDTRSVLYVLTGSSV    421 - 490
PDLIVSMSNQMWLHLQSDDSIGSPGFKAVYQEIEKGGCGDPGIPAYGKRTGSSFLHGDTLTFECPAAFEL    491 - 560
VGERVITCQQNNQWSGNKPSCVFSCFFNFTASSGIILSPNYPEEYGNNMNCVWLIISEPGSRIHLIFNDF    561 - 630
DVEPQFDFLAVKDDGISDITVLGTFSGNEVPSQLASSGHIVRLEFQSDHSTTGRGFNITYTTFGQNECHD    631 - 700
PGIPINGRRFGDRFLLGSSVSFHCDDGFVKTQGSESITCILQDGNVVWSSTVPRCEAPCGGHLTASSGVI    701 - 770
LPPGWPGYYKDSLHCEWIIEAKPGHSIKMTFDRFQTEVNYDTLEVRDGPASSSPLIGEYHGTQAPQFLIS    771 - 840
TGNFMYLLFTTDNSRSSIGFLIHYESVTLESDSCLDPGIPVNGHRHGGDFGIRSTVTFSCDPGYTLSDDE    841 - 910
PLVCERNHQWNHALPSCDALCGGYIQGKSGTVLSPGFPDFYPNSLNCTWTIEVSHGKGVQMIFHTFHLES    911 - 980
SHDYLLITEDGSFSEPVARLTGSVLPHTIKAGLFGNFTAQLRFISDFSISYEGFNITFSEYDLEPCDDPG    981 - 1050
VPAFSRRIGFHFGVGDSLTFSCFLGYRLEGATKLTCLGGGRRVWSAPLPRCVAECGASVKGNEGTLLSPN   1051 - 1120
FPSNYDNTHECIYKIETEAGKGIHLRTRSFQLFEGDTLKVYDGKDSSSRPLGTFTKNELLGLILNSTSNH   1121 - 1190
LWLEFNTNGSDTDQGFQLTYTSFDLVKCEDPGIPNYGYRIRDEGHFTDTVVLYSCNPGYAMHGSNTLTCL   1191 - 1260
SGDRRVWDKPLPSCIAECGGQIHAATSGRILSPGYPAPYDNNLHCTWIIEADPGKTISLHFIVFDTEMAH   1261 - 1330
DILKVWDGPVDSDILLKEWSGSALPEDIHSTFNSLTLQFDSDFFISKSGFSIQFSTSIAATCNDPGMPQN   1331 - 1400
GTRYGDSREAGDTVTFQCDPGYQLQGQAKITCVQLNNRFFWQPDPPTCIAACGGNLTGPAGVILSPNYPQ   1401 - 1470
PYPPGKECDWRVKVNPDFVIALIFKSFNMEPSYDFLHIYEGEDSNSPLIGSYQGSQAPERIESSGNSLFL   1471 - 1540
AFRSDASVGLSGFAIEFKEKPREACFDPGNIMNGTRVGTDFKLGSTITYQCDSGYKILDPSSITCVIGAD   1541 - 1610
GKPSWDQVLPSCNAPCGGQYTGSEGVVLSPNYPHNYTAGQICLYSITVPKEFVVFGQFAYFQTALNDLAE   1611 - 1680
LFDGTHAQARLLSSLSGSHSGETLPLATSNQILLRFSAKSGASARGFHFVYQAVPRTSDTQCSSVPEPRY   1681 - 1750
GRRIGSEFSAGSIVRFECNPGYLLQGSTALHCQSVPNALAQWNDTIPSCVVPCSGNFTQRRGTILSPGYP   1751 - 1820
EPYGNNLNCIWKIIVTEGSGIQIQVISFATEQNWDSLEIHDGGDVTAPRLGSFSGTTVPALLNSTSNQLY   1821 - 1890
LHFQSDISVAAAGFHLEYKTVGLAACQEPALPSNSIKIGDRYMVNDVLSFQCEPGYTLQGRSHISCMPGT   1891 - 1960
VRRWNYPSPLCIATCGGTLSTLGGVILSPGFPGSYPNNLDCTWRISLPIGYGAHIQFLNFSTEANHDFLE   1961 - 2030
IQNGPYHTSPMIGQFSGTDLPAALLSTTHETLIHFYSDHSQNRQGFKLAYQAYELQNCPDPPPFQNGYMI   2031 - 2100
NSDYSVGQSVSFECYPGYILIGHPVLTCQHGINRNWNYPFPRCDAPCGYNVTSQNGTIYSPGFPDEYPIL   2101 - 2170
KDCIWLITVPPGHGVYINFTLLQTEAVNDYIAVWDGPDQNSPQLGVFSGNTALETAYSSTNQVLLKFHSD   2171 - 2240
FSNGGFFVLNFHAFQLKKCQPPPAVPQAEMLTEDDDFEIGDFVKYQCHPGYTLVGTDILTCKLSSQLQFE   2241 - 2310
GSLPTCEAQCPANEVRTGSSGVILSPGYPGNYFNSQTCSWSIKVEPNYNITIFVDTFQSEKQFDALEVFD   2311 - 2380
GSSGQSPLLVVLSGNHTEQSNFTSRSNQLYLRWSTDHATSKKGFKIRYAAPYCSLTHPLKNGGILNRTAG   2381 - 2450
AVGSKVHYFCKPGYRMVGHSNATCRRNPLGMYQWDSLTPLCQAVSCGIPESPGNGSFTGNEFTLDSKVVY   2451 - 2520
ECHEGFKLESSQQATAVCQEDGLWSNKGKPPMCKPVACPSIEAQLSEHVIWRLVSGSLNEYGAQVLLSCS   2521 - 2590
PGYYLEGWRLLRCQANGTWNIGDERPSCRVISCGSLSFPPNGNKIGTLTVYGATAIFTCNTGYTLVGSHV   2591 - 2660
RECLANGLWSGSETRCLAGHCGSPDPIVNGHISGDGFSYRDTVVYQCNPGFRLVGTSVRICLQDHKWSGQ   2661 - 2730
TPVCVPITCGHPGNPAHGFTNGSEFNLNDVVNFTCNTGYLLQGVSRAQCRSNGQWSSPLPTCRVVNCSDP   2731 - 2800
GFVENAIRHGQQNFPESFEYGMSILYHCKKGFHLLGSSALTCMANGLWDRSLPKCLAISCGHPGVPANAV   2801 - 2870
LTGELFTYGAVVHYSCRGSESLIGNDTRVCQEDSHWSGALPHCTGNNPGFCGDPGTPAHGSRLGDDFKTK   2871 - 2940
SLLRFSCEMGHQLRGSPERTCLLNGSWSGLQPVCEAVSCGNPGTPTNGMIVSSDGILFSSSVIYACWEGY   2941 - 3010
KTSGLMTRHCTANGTWTGTAPDCTIISCGDPGTLANGIQFGTDFTFNKTVSYQCNPGYVMEAVTSATIRC   3011 - 3080
TKDGRWNPSKPVCKAVLCPQPPPVQNGTVEGSDFRWGSSISYSCMDGYQLSHSAILSCEGRGVWKGEIPQ   3081 - 3150
CLPVFCGDPGIPAEGRLSGKSFTYKSEVFFQCKSPFILVGSSRRVCQADGTWSGIQPTCIDPAHNTCPDP   3151 - 3220
GTPHFGIQNSSRGYEVGSTVFFRCRKGYHIQGSTTRTCLANLTWSGIQTECIPHACRQPETPAHADVRAI   3221 - 3290
DLPTFGYTLVYTCHPGFFLAGGSEHRTCKADMKWTGKSPVCKSKGVREVNETVTKTPVPSDVFFVNSLWK   3291 - 3360
GYYEYLGKRQPATLTVDWFNATSSKVNATFSEASPVELKLTGIYKKEEAHLLLKAFQIKGQADIFVSKFE   3361 - 3430
NDNWGLDGYVSSGLERGGFTFQGDIHGKDFGKFKLERQDPLNPDQDSSSHYHGTSSGSVAAAILVPFFAL   3431 - 3500
ILSGFAFYLYKHRTRPKVQYNGYAGHENSNGQASFENPMYDTNLKPTEAKAVRFDTTLNTVCTVV        3501 - 3565
//

Text Mined References (80)

PMID Year Title
26566883 2016 Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
26366535 2015 Genome-wide Association Study of Postburn Scarring Identifies a Novel Protective Variant.
26076954 2015 Loss of heterozygosity at D8S262: an early genetic event of hepatocarcinogenesis.
25845235 [Replicative association analysis of genetic markers of cognitive traits with Alzheimer's disease in a Russian population].
25695618 2015 TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives.
25456346 2015 Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene.
25343990 2015 Genome-wide association study of selenium concentrations.
25241909 2014 Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
25057126 2014 Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24823311 2014 Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
24709693 2014 Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
24630139 2014 The CSMD1 genome-wide associated schizophrenia risk variant rs10503253 affects general cognitive ability and executive function in healthy males.
24408017 2014 Loss of CSMD1 or 2 may contribute to the poor prognosis of colorectal cancer patients.
24387768 2014 Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1.
24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
24166486 2013 GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.
24165912 2013 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
24058526 2013 Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23966867 2013 Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
23964079 2013 The novel complement inhibitor human CUB and Sushi multiple domains 1 (CSMD1) protein promotes factor I-mediated degradation of C4b and C3b and inhibits the membrane attack complex assembly.
23942779 2013 A genome-wide association study of behavioral disinhibition.
23839771 2013 Neural effects of the CSMD1 genome-wide associated schizophrenia risk variant rs10503253.
23698163 2013 Genome-wide association study of serum selenium concentrations.
23648065 2013 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
23583980 2013 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
23568457 2013 Genetic variants associated with disordered eating.
23541940 2013 TNIP1/ANXA6 and CSMD1 variants interacting with cigarette smoking, alcohol intake affect risk of psoriasis.
23535033 2014 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
23505554 2013 Somatic mutations, allele loss, and DNA methylation of the Cub and Sushi Multiple Domains 1 (CSMD1) gene reveals association with early age of diagnosis in colorectal cancer patients.
23472165 2013 Genome-wide association study link novel loci to endometriosis.
23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
23382691 2013 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
23320435 2013 Neuropsychological effects of the CSMD1 genome-wide associated schizophrenia risk variant rs10503253.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22993228 2013 Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
22688191 2012 Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
22542470 2012 Genome-wide association study of antibody response to smallpox vaccine.
22538441 2012 CSMD1 exhibits antitumor activity in A375 melanoma cells through activation of the Smad pathway.
22424883 2012 Genome-wide association study of lung function decline in adults with and without asthma.
21926974 2011 Genome-wide association study identifies five new schizophrenia loci.
21901158 2011 Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
21439553 2011 The complement control-related genes CSMD1 and CSMD2 associate to schizophrenia.
21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
20953187 2010 Association analyses identify six new psoriasis susceptibility loci in the Chinese population.
20944657 2011 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.
20709820 2011 Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.
20610895 2010 Identification of evidence suggestive of an association with peripheral arterial disease at the OSBPL10 locus by genome-wide investigation in the Japanese population.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20200978 2010 Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.
20125193 2010 Common genetic variation and performance on standardized cognitive tests.
19960030 2010 Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts.
19669408 2010 Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinoma.
19383911 2009 Analysis of DNA copy number alterations in ovarian serous tumors identifies new molecular genetic changes in low-grade and high-grade carcinomas.
19276661 2009 Characterization CSMD1 in a large set of primary lung, head and neck, breast and skin cancer tissues.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19132087 2009 A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.
19010793 2009 Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
18614856 2008 Somatic mutations to CSMD1 in colorectal adenocarcinomas.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
16751668 2006 Scan of human genome reveals no new Loci under ancient balancing selection.
16547280 2006 CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues.
16421571 2006 DNA sequence and analysis of human chromosome 8.
16221525 2006 Common fragile sites, extremely large genes, neural development and cancer.
16203795 2005 Bladder cancer stage and outcome by array-based comparative genomic hybridization.
16153303 2005 Epigenetic inactivation and aberrant transcription of CSMD1 in squamous cell carcinoma cell lines.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15203218 2004 Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes.
15138198 2004 Whole genome scanning identifies genotypes associated with recurrence and metastasis in prostate tumors.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14671302 2003 Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios.
14506705 2003 The role of CSMD1 in head and neck carcinogenesis.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12906867 2003 Identification of two new members of the CSMD gene family.
12874026 2003 Survival analysis of genome-wide gene expression profiles of prostate cancers identifies new prognostic targets of disease relapse.
12696061 2003 The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis.
11572484 2001 Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.
11472063 2001 Transcript map of the 8p23 putative tumor suppressor region.