MBD2 (methyl-CpG binding domain protein 2) - Rat Genome Database

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Gene: MBD2 (methyl-CpG binding domain protein 2) Homo sapiens
Analyze
Symbol: MBD2
Name: methyl-CpG binding domain protein 2
RGD ID: 1312368
HGNC Page HGNC:6917
Description: Enables C2H2 zinc finger domain binding activity; methyl-CpG binding activity; and molecular adaptor activity. Contributes to nucleosomal DNA binding activity. Involved in DNA methylation-dependent heterochromatin formation and negative regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. Part of NuRD complex. Implicated in schizophrenia. Biomarker of rheumatoid arthritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: demethylase; DKFZp586O0821; DMTase; methyl-CpG-binding domain protein 2; methyl-CpG-binding protein MBD2; NY-CO-41
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381854,151,606 - 54,224,669 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1854,151,606 - 54,224,669 (-)EnsemblGRCh38hg38GRCh38
GRCh371851,677,976 - 51,751,039 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361849,934,573 - 50,005,156 (-)NCBINCBI36Build 36hg18NCBI36
Build 341849,983,044 - 50,005,156NCBI
Celera1848,536,865 - 48,607,453 (-)NCBICelera
Cytogenetic Map18q21.2NCBI
HuRef1848,533,225 - 48,606,305 (-)NCBIHuRef
CHM1_11851,672,993 - 51,746,130 (-)NCBICHM1_1
T2T-CHM13v2.01854,354,681 - 54,427,744 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
acrolein  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bicalutamide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
coumarin  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diethylstilbestrol  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
fumonisin B1  (EXP)
genistein  (EXP,ISO)
hydroquinone  (EXP)
indometacin  (EXP)
L-methionine  (ISO)
menadione  (ISO)
mercury dibromide  (EXP)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
ozone  (EXP)
paracetamol  (ISO)
permethrin  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
resveratrol  (EXP)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sulforaphane  (EXP)
sulindac  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP,ISO)
zebularine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (HDA,IDA,IEA,ISO)
chromosome  (IEA)
cytoplasm  (IEA)
cytosol  (IDA)
heterochromatin  (IEA)
histone deacetylase complex  (IEA)
nucleolus  (ISO)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IBA,IDA,IEA,NAS,TAS)
NuRD complex  (IDA,NAS)
protein-containing complex  (HDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. The nucleosome remodeling and deacetylase complex in development and disease. Basta J and Rauchman M, Transl Res. 2014 May 10. pii: S1931-5244(14)00166-2. doi: 10.1016/j.trsl.2014.05.003.
2. On how mammalian transcription factors recognize methylated DNA. Buck-Koehntop BA and Defossez PA, Epigenetics. 2013 Feb;8(2):131-7. doi: 10.4161/epi.23632. Epub 2013 Jan 16.
3. Kindling induces the mRNA expression of methyl DNA-binding factors in the adult rat hippocampus. Francis J, etal., Neuroscience. 2002;113(1):79-87.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Transient forebrain ischemia alters the mRNA expression of methyl DNA-binding factors in the adult rat hippocampus. Jung BP, etal., Neuroscience. 2002;115(2):515-24.
6. Gestational choline deficiency causes global and Igf2 gene DNA hypermethylation by up-regulation of Dnmt1 expression. Kovacheva VP, etal., J Biol Chem. 2007 Oct 26;282(43):31777-88. Epub 2007 Aug 27.
7. Global DNA methylation, DNMT1, and MBD2 in patients with rheumatoid arthritis. Liu CC, etal., Immunol Lett. 2011 Mar 30;135(1-2):96-9. doi: 10.1016/j.imlet.2010.10.003. Epub 2010 Oct 16.
8. Effect of Methyl-CpG binding domain protein 2 (MBD2) on AMD-like lesions in ApoE-deficient mice. Pan JR, etal., J Huazhong Univ Sci Technolog Med Sci. 2014 Jun;34(3):408-14. doi: 10.1007/s11596-014-1292-2. Epub 2014 Jun 18.
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Chronic cerebrovascular hypoperfusion affects global DNA methylation and histone acetylation in rat brain. Wu X, etal., Neurosci Bull. 2013 Dec;29(6):685-92. doi: 10.1007/s12264-013-1345-8. Epub 2013 May 28.
11. Genetic association study between methyl-CpG-binding domain genes and schizophrenia among Chinese family trios. Xie B, etal., Psychiatr Genet. 2014 Oct;24(5):221-4. doi: 10.1097/YPG.0000000000000042.
Additional References at PubMed
PMID:9610721   PMID:9774669   PMID:9790534   PMID:9804427   PMID:10050851   PMID:10441743   PMID:10444591   PMID:10471499   PMID:10947852   PMID:10950960   PMID:11102443   PMID:11297506  
PMID:11553631   PMID:11710831   PMID:11756549   PMID:11960994   PMID:11984006   PMID:12124384   PMID:12177048   PMID:12183469   PMID:12388720   PMID:12477932   PMID:12588985   PMID:12646234  
PMID:12665568   PMID:14610093   PMID:14633992   PMID:14688029   PMID:15112265   PMID:15456747   PMID:15489334   PMID:15674330   PMID:15701600   PMID:16052033   PMID:16168120   PMID:16217013  
PMID:16410616   PMID:16415179   PMID:16428440   PMID:16951344   PMID:16980624   PMID:16998846   PMID:17049487   PMID:17081983   PMID:17353267   PMID:17360956   PMID:17634428   PMID:17634443  
PMID:17688412   PMID:18414412   PMID:18676680   PMID:18830263   PMID:18931530   PMID:18952593   PMID:19019634   PMID:19124506   PMID:19170196   PMID:19454010   PMID:19505873   PMID:19625176  
PMID:19661918   PMID:19690890   PMID:19692168   PMID:19729656   PMID:19927129   PMID:20300195   PMID:20453000   PMID:20523938   PMID:21029866   PMID:21078759   PMID:21086164   PMID:21165562  
PMID:21258344   PMID:21296012   PMID:21316665   PMID:21377502   PMID:21653829   PMID:21693597   PMID:21724586   PMID:21873635   PMID:21937684   PMID:21988832   PMID:22048253   PMID:22258532  
PMID:22876037   PMID:23071088   PMID:23127209   PMID:23239876   PMID:23361464   PMID:23667531   PMID:23752268   PMID:23770133   PMID:23820632   PMID:23888954   PMID:23955541   PMID:24024966  
PMID:24204564   PMID:24307175   PMID:24338710   PMID:24374650   PMID:24813856   PMID:24927503   PMID:24981860   PMID:25135974   PMID:25178277   PMID:25247294   PMID:25363021   PMID:25476119  
PMID:25609649   PMID:25693804   PMID:25753662   PMID:25798578   PMID:26007656   PMID:26186194   PMID:26264872   PMID:26344197   PMID:26496610   PMID:26760575   PMID:26788506   PMID:26827827  
PMID:26864203   PMID:27173435   PMID:27315121   PMID:27388476   PMID:27593931   PMID:27705803   PMID:28242625   PMID:28481362   PMID:28514442   PMID:28637186   PMID:28977470   PMID:28977666  
PMID:29022913   PMID:29330145   PMID:29535511   PMID:29565710   PMID:29741809   PMID:30636104   PMID:30735628   PMID:30760870   PMID:30804502   PMID:30912130   PMID:30980593   PMID:31091453  
PMID:31114989   PMID:31412880   PMID:31527615   PMID:31753913   PMID:32296183   PMID:32416067   PMID:32744500   PMID:32814053   PMID:33264408   PMID:33283408   PMID:33301849   PMID:33402389  
PMID:33640491   PMID:33660365   PMID:33961781   PMID:33997955   PMID:34079125   PMID:34461288   PMID:34617573   PMID:35140242   PMID:35158098   PMID:35241646   PMID:35271311   PMID:35583604  
PMID:35734966   PMID:35819319   PMID:35831314   PMID:36037972   PMID:36090987   PMID:36129980   PMID:36244648   PMID:36424410   PMID:36961677  


Genomics

Comparative Map Data
MBD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381854,151,606 - 54,224,669 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1854,151,606 - 54,224,669 (-)EnsemblGRCh38hg38GRCh38
GRCh371851,677,976 - 51,751,039 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361849,934,573 - 50,005,156 (-)NCBINCBI36Build 36hg18NCBI36
Build 341849,983,044 - 50,005,156NCBI
Celera1848,536,865 - 48,607,453 (-)NCBICelera
Cytogenetic Map18q21.2NCBI
HuRef1848,533,225 - 48,606,305 (-)NCBIHuRef
CHM1_11851,672,993 - 51,746,130 (-)NCBICHM1_1
T2T-CHM13v2.01854,354,681 - 54,427,744 (-)NCBIT2T-CHM13v2.0
Mbd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391870,701,298 - 70,761,769 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1870,701,260 - 70,759,202 (+)EnsemblGRCm39 Ensembl
GRCm381870,568,225 - 70,629,134 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1870,568,189 - 70,626,131 (+)EnsemblGRCm38mm10GRCm38
MGSCv371870,727,946 - 70,785,785 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361870,693,557 - 70,751,499 (+)NCBIMGSCv36mm8
Celera1871,855,127 - 71,913,052 (+)NCBICelera
Cytogenetic Map18E2NCBI
cM Map1844.54NCBI
Mbd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81866,449,196 - 66,516,112 (+)NCBIGRCr8
mRatBN7.21864,174,002 - 64,240,795 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1864,174,002 - 64,240,794 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1866,250,441 - 66,317,290 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01866,943,914 - 67,010,763 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01864,791,202 - 64,858,194 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01865,814,026 - 65,885,115 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1865,814,026 - 65,885,114 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01864,990,480 - 65,060,941 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41867,281,440 - 67,348,558 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11867,378,120 - 67,421,847 (+)NCBI
Celera1862,237,373 - 62,304,615 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
Mbd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540238,767,419 - 38,830,204 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540238,761,668 - 38,829,830 (-)NCBIChiLan1.0ChiLan1.0
MBD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21771,682,971 - 71,755,813 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11857,372,347 - 57,448,428 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01847,534,356 - 47,609,481 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11850,876,490 - 50,946,077 (-)NCBIpanpan1.1PanPan1.1panPan2
MBD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1121,232,260 - 21,283,687 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl121,235,967 - 21,283,346 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha122,214,129 - 22,277,156 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0121,116,138 - 21,179,161 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl121,116,177 - 21,179,029 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1121,172,397 - 21,235,448 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0121,064,613 - 21,127,587 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0121,336,222 - 21,399,248 (+)NCBIUU_Cfam_GSD_1.0
Mbd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494434,305,611 - 34,380,215 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364979,545,907 - 9,619,267 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364979,512,350 - 9,619,250 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MBD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1103,735,192 - 103,752,402 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11103,683,077 - 103,768,372 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21113,947,945 - 113,959,372 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MBD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11826,714,610 - 26,785,028 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666050632,587 - 703,065 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mbd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477817,883,933 - 17,959,880 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477817,880,480 - 17,959,879 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MBD2
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2(chr18:51875428-55658999)x1 copy number loss See cases [RCV000053835] Chr18:51875428..55658999 [GRCh38]
Chr18:49401798..53326230 [GRCh37]
Chr18:47655796..51477228 [NCBI36]
Chr18:18q21.2		 pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_003927.5(MBD2):c.375G>T (p.Glu125Asp) single nucleotide variant not specified [RCV004296497] Chr18:54224185 [GRCh38]
Chr18:51750555 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23		 likely pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_003927.5(MBD2):c.193A>G (p.Lys65Glu) single nucleotide variant not specified [RCV004329507] Chr18:54224367 [GRCh38]
Chr18:51750737 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.337G>T (p.Gly113Cys) single nucleotide variant not specified [RCV004290355] Chr18:54224223 [GRCh38]
Chr18:51750593 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.208G>A (p.Gly70Ser) single nucleotide variant not specified [RCV004327134] Chr18:54224352 [GRCh38]
Chr18:51750722 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 copy number gain not provided [RCV000684057] Chr18:35866313..55082983 [GRCh37]
Chr18:18q12.2-21.31		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 copy number loss not provided [RCV000739822] Chr18:51036415..59275480 [GRCh37]
Chr18:18q21.2-21.33		 pathogenic
NM_003927.5(MBD2):c.1044T>C (p.Pro348=) single nucleotide variant not provided [RCV000960978] Chr18:54164588 [GRCh38]
Chr18:51690958 [GRCh37]
Chr18:18q21.2		 benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33		 pathogenic
NM_003927.5(MBD2):c.202G>C (p.Gly68Arg) single nucleotide variant not specified [RCV004306056] Chr18:54224358 [GRCh38]
Chr18:51750728 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.131C>T (p.Ser44Phe) single nucleotide variant not specified [RCV004305543] Chr18:54224429 [GRCh38]
Chr18:51750799 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.1181G>A (p.Arg394Gln) single nucleotide variant not specified [RCV004296458] Chr18:54159832 [GRCh38]
Chr18:51686202 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) copy number loss not specified [RCV002052639] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-21.31(chr18:50707829-54924248) copy number loss not specified [RCV002052638] Chr18:50707829..54924248 [GRCh37]
Chr18:18q21.2-21.31		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_003927.5(MBD2):c.115A>T (p.Ser39Cys) single nucleotide variant not specified [RCV004332976] Chr18:54224445 [GRCh38]
Chr18:51750815 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q21.2(chr18:51223984-53001044)x3 copy number gain not provided [RCV002472441] Chr18:51223984..53001044 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q21.2(chr18:49666138-51804494)x3 copy number gain not provided [RCV002472825] Chr18:49666138..51804494 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.160G>C (p.Ala54Pro) single nucleotide variant not specified [RCV004152095] Chr18:54224400 [GRCh38]
Chr18:51750770 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.128C>A (p.Pro43Gln) single nucleotide variant not specified [RCV004140112] Chr18:54224432 [GRCh38]
Chr18:51750802 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.469C>G (p.Pro157Ala) single nucleotide variant not specified [RCV004099781] Chr18:54224091 [GRCh38]
Chr18:51750461 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.410G>T (p.Gly137Val) single nucleotide variant not specified [RCV004162656] Chr18:54224150 [GRCh38]
Chr18:51750520 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.409G>C (p.Gly137Arg) single nucleotide variant not specified [RCV004162655] Chr18:54224151 [GRCh38]
Chr18:51750521 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.145G>T (p.Val49Leu) single nucleotide variant not specified [RCV004118970] Chr18:54224415 [GRCh38]
Chr18:51750785 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.717G>C (p.Leu239Phe) single nucleotide variant not specified [RCV004120502] Chr18:54188997 [GRCh38]
Chr18:51715367 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.325G>T (p.Gly109Cys) single nucleotide variant not specified [RCV004320213] Chr18:54224235 [GRCh38]
Chr18:51750605 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.1192A>G (p.Thr398Ala) single nucleotide variant not specified [RCV004344059] Chr18:54159821 [GRCh38]
Chr18:51686191 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q21.2(chr18:51003914-53456476)x3 copy number gain not provided [RCV003485185] Chr18:51003914..53456476 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.163C>T (p.Arg55Trp) single nucleotide variant not specified [RCV004416837] Chr18:54224397 [GRCh38]
Chr18:51750767 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.82G>C (p.Gly28Arg) single nucleotide variant not specified [RCV004416842] Chr18:54224478 [GRCh38]
Chr18:51750848 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_003927.5(MBD2):c.280C>T (p.Arg94Cys) single nucleotide variant not specified [RCV004416838] Chr18:54224280 [GRCh38]
Chr18:51750650 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.128C>T (p.Pro43Leu) single nucleotide variant not specified [RCV004416836] Chr18:54224432 [GRCh38]
Chr18:51750802 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.289C>T (p.Pro97Ser) single nucleotide variant not specified [RCV004416839] Chr18:54224271 [GRCh38]
Chr18:51750641 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.305G>C (p.Ser102Thr) single nucleotide variant not specified [RCV004416840] Chr18:54224255 [GRCh38]
Chr18:51750625 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_003927.5(MBD2):c.438C>G (p.Ser146Arg) single nucleotide variant not specified [RCV004416841] Chr18:54224122 [GRCh38]
Chr18:51750492 [GRCh37]
Chr18:18q21.2		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR373hsa-miR-373-3pOncomiRDBexternal_infoNANA22876037
MIR373hsa-miR-373-3pOncomiRDBexternal_infoNANA21086164

Predicted Target Of
Summary Value
Count of predictions:1730
Count of miRNA genes:936
Interacting mature miRNAs:1081
Transcripts:ENST00000256429, ENST00000398398, ENST00000578272, ENST00000579025, ENST00000583046
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D18S487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371851,737,709 - 51,737,821UniSTSGRCh37
GRCh371851,737,714 - 51,737,828UniSTSGRCh37
Build 361849,991,712 - 49,991,826RGDNCBI36
Celera1848,594,000 - 48,594,118UniSTS
Celera1848,594,005 - 48,594,125RGD
Cytogenetic Map18q21UniSTS
HuRef1848,592,966 - 48,593,078UniSTS
HuRef1848,592,971 - 48,593,085UniSTS
Marshfield Genetic Map1876.15UniSTS
Marshfield Genetic Map1876.15RGD
Genethon Genetic Map1874.7UniSTS
TNG Radiation Hybrid Map1820924.0UniSTS
deCODE Assembly Map1875.62UniSTS
Whitehead-RH Map18377.9UniSTS
Whitehead-YAC Contig Map18 UniSTS
NCBI RH Map18630.1UniSTS
RH98619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371851,729,107 - 51,729,237UniSTSGRCh37
Build 361849,983,105 - 49,983,235RGDNCBI36
Celera1848,585,398 - 48,585,528RGD
Cytogenetic Map18q21UniSTS
HuRef1848,584,368 - 48,584,498UniSTS
GeneMap99-GB4 RH Map18379.02UniSTS
SHGC-81536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371851,681,362 - 51,681,683UniSTSGRCh37
Build 361849,935,360 - 49,935,681RGDNCBI36
Celera1848,537,652 - 48,537,973RGD
Cytogenetic Map18q21UniSTS
HuRef1848,536,616 - 48,536,937UniSTS
TNG Radiation Hybrid Map1820900.0UniSTS
PMC109239P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371851,750,161 - 51,750,432UniSTSGRCh37
Build 361850,004,159 - 50,004,430RGDNCBI36
Celera1848,606,456 - 48,606,727RGD
Cytogenetic Map18q21.2UniSTS
Cytogenetic Map18q21UniSTS
RH36568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371851,680,652 - 51,680,788UniSTSGRCh37
Build 361849,934,650 - 49,934,786RGDNCBI36
Celera1848,536,942 - 48,537,078RGD
Cytogenetic Map18q21UniSTS
HuRef1848,535,906 - 48,536,042UniSTS
GeneMap99-GB4 RH Map18375.59UniSTS
NCBI RH Map18630.1UniSTS
D18S487  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q21UniSTS
TNG Radiation Hybrid Map1820924.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2390 2506 1517 427 1847 269 4105 1641 2329 393 1444 1606 171 1203 2551 4
Low 48 483 209 197 104 196 251 555 1401 26 16 7 4 1 1 237 1 2
Below cutoff 1 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC090666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF039701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF072242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF072246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF072252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW151547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW274866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE540652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ228712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000256429   ⟹   ENSP00000256429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1854,151,606 - 54,224,669 (-)Ensembl
RefSeq Acc Id: ENST00000398398   ⟹   ENSP00000381435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1854,202,680 - 54,224,647 (-)Ensembl
RefSeq Acc Id: ENST00000578272   ⟹   ENSP00000462393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1854,159,758 - 54,205,021 (-)Ensembl
RefSeq Acc Id: ENST00000579025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1854,155,254 - 54,160,113 (-)Ensembl
RefSeq Acc Id: ENST00000583046   ⟹   ENSP00000464554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1854,202,681 - 54,224,617 (-)Ensembl
RefSeq Acc Id: NM_003927   ⟹   NP_003918
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381854,151,606 - 54,224,669 (-)NCBI
GRCh371851,677,971 - 51,751,158 (-)NCBI
Build 361849,934,573 - 50,005,156 (-)NCBI Archive
HuRef1848,533,225 - 48,606,305 (-)ENTREZGENE
CHM1_11851,672,993 - 51,746,130 (-)NCBI
T2T-CHM13v2.01854,354,681 - 54,427,744 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015832   ⟹   NP_056647
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381854,202,671 - 54,224,669 (-)NCBI
GRCh371851,677,971 - 51,751,158 (-)ENTREZGENE
Build 361849,983,045 - 50,005,156 (-)NCBI Archive
HuRef1848,533,225 - 48,606,305 (-)ENTREZGENE
CHM1_11851,724,056 - 51,746,130 (-)NCBI
T2T-CHM13v2.01854,405,746 - 54,427,744 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_003918   ⟸   NM_003927
- Peptide Label: isoform 1
- UniProtKB: O95242 (UniProtKB/Swiss-Prot),   Q9UIS8 (UniProtKB/Swiss-Prot),   Q9UBB5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_056647   ⟸   NM_015832
- Peptide Label: testis-specific isoform
- Sequence:
RefSeq Acc Id: ENSP00000381435   ⟸   ENST00000398398
RefSeq Acc Id: ENSP00000464554   ⟸   ENST00000583046
RefSeq Acc Id: ENSP00000256429   ⟸   ENST00000256429
RefSeq Acc Id: ENSP00000462393   ⟸   ENST00000578272
Protein Domains
MBD   Methyl-CpG-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UBB5-F1-model_v2 AlphaFold Q9UBB5 1-411 view protein structure

Promoters
RGD ID:6794919
Promoter ID:HG_KWN:28043
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015832,   OTTHUMT00000256003
Position:
Human AssemblyChrPosition (strand)Source
Build 361850,004,391 - 50,005,122 (-)MPROMDB
RGD ID:7237367
Promoter ID:EPDNEW_H24429
Type:initiation region
Name:MBD2_1
Description:methyl-CpG binding domain protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381854,224,534 - 54,224,594EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6917 AgrOrtholog
COSMIC MBD2 COSMIC
Ensembl Genes ENSG00000134046 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000256429 ENTREZGENE
  ENST00000256429.8 UniProtKB/Swiss-Prot
  ENST00000398398.6 UniProtKB/TrEMBL
  ENST00000578272.1 UniProtKB/TrEMBL
  ENST00000583046 ENTREZGENE
  ENST00000583046.1 UniProtKB/Swiss-Prot
GTEx ENSG00000134046 GTEx
HGNC ID HGNC:6917 ENTREZGENE
Human Proteome Map MBD2 Human Proteome Map
InterPro DNA-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MBD2/MBD3_p55-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MeCpG-bd_2/3_C_dom UniProtKB/Swiss-Prot
  Methyl_CpG_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8932 UniProtKB/Swiss-Prot
NCBI Gene 8932 ENTREZGENE
OMIM 603547 OMIM
PANTHER METHYL-CPG BINDING PROTEIN, MBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  METHYL-CPG-BINDING DOMAIN PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MBD_C UniProtKB/Swiss-Prot
  MBDa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30660 PharmGKB
PROSITE MBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54171 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt J3KSA7_HUMAN UniProtKB/TrEMBL
  MBD2_HUMAN UniProtKB/Swiss-Prot
  O95242 ENTREZGENE
  Q9UBB5 ENTREZGENE
  Q9UIS8 ENTREZGENE
  X6RBL6_HUMAN UniProtKB/TrEMBL
UniProt Secondary O95242 UniProtKB/Swiss-Prot
  Q9UIS8 UniProtKB/Swiss-Prot