L3MBTL2 (L3MBTL histone methyl-lysine binding protein 2) - Rat Genome Database

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Gene: L3MBTL2 (L3MBTL histone methyl-lysine binding protein 2) Homo sapiens
Analyze
Symbol: L3MBTL2
Name: L3MBTL histone methyl-lysine binding protein 2
RGD ID: 1318418
HGNC Page HGNC:18594
Description: Enables methylated histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to act upstream of or within several processes, including ectoderm development; stem cell differentiation; and stem cell proliferation. Located in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: H-l(3)mbt-l; H-l(3)mbt-like protein 2; l(3)mbt-like 2; l(3)mbt-like 2 (Drosophila); L(3)mbt-like protein 2; L3MBT; L3MBTL2 polycomb repressive complex 1 subunit; L3MBTL2, polycomb repressive complex 1 subunit; lethal(3)malignant brain tumor-like protein 2; lmbt-like 2 (Drosophila) isoform 1; lmbt-like 2 (Drosophila) isoform 2; lmbt-like 2 isoform 1; lmbt-like 2 isoform 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382241,205,312 - 41,231,271 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2241,205,282 - 41,231,271 (+)EnsemblGRCh38hg38GRCh38
GRCh372241,601,316 - 41,627,275 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362239,931,259 - 39,957,221 (+)NCBINCBI36Build 36hg18NCBI36
Build 342239,925,812 - 39,951,774NCBI
Celera2225,407,662 - 25,433,655 (+)NCBICelera
Cytogenetic Map22q13.2NCBI
HuRef2224,565,907 - 24,591,739 (+)NCBIHuRef
CHM1_12241,560,987 - 41,586,967 (+)NCBICHM1_1
T2T-CHM13v2.02241,680,250 - 41,706,208 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleoplasm  (TAS)
nucleus  (IBA,IDA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10591208   PMID:11076863   PMID:11230166   PMID:11256614   PMID:11682070   PMID:12004135   PMID:12477932   PMID:14702039   PMID:15461802   PMID:15489334   PMID:15489336   PMID:16189514  
PMID:16381901   PMID:16751776   PMID:17540172   PMID:18029348   PMID:19233876   PMID:19241375   PMID:20360068   PMID:20385135   PMID:21549307   PMID:21596310   PMID:21654808   PMID:21873635  
PMID:21988832   PMID:22325352   PMID:24369422   PMID:24457600   PMID:24981860   PMID:25056061   PMID:25416956   PMID:25609649   PMID:26186194   PMID:26437366   PMID:26496610   PMID:26673895  
PMID:26871637   PMID:27107012   PMID:27705803   PMID:27918536   PMID:28514442   PMID:28718761   PMID:29028833   PMID:29117863   PMID:29395067   PMID:29467282   PMID:29581593   PMID:29778605  
PMID:29844126   PMID:29997244   PMID:30415952   PMID:30804502   PMID:31343991   PMID:31409639   PMID:31586073   PMID:31871319   PMID:32296183   PMID:32891193   PMID:33766124   PMID:33916271  
PMID:33957083   PMID:33961781   PMID:34079125   PMID:34672954   PMID:34709266   PMID:34728620   PMID:35140242   PMID:35439318   PMID:35705031   PMID:35933409   PMID:35941108   PMID:35944360  
PMID:36089195   PMID:36129980   PMID:36180527   PMID:36537216   PMID:36912080   PMID:37689310   PMID:37992172   PMID:38297188  


Genomics

Comparative Map Data
L3MBTL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382241,205,312 - 41,231,271 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2241,205,282 - 41,231,271 (+)EnsemblGRCh38hg38GRCh38
GRCh372241,601,316 - 41,627,275 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362239,931,259 - 39,957,221 (+)NCBINCBI36Build 36hg18NCBI36
Build 342239,925,812 - 39,951,774NCBI
Celera2225,407,662 - 25,433,655 (+)NCBICelera
Cytogenetic Map22q13.2NCBI
HuRef2224,565,907 - 24,591,739 (+)NCBIHuRef
CHM1_12241,560,987 - 41,586,967 (+)NCBICHM1_1
T2T-CHM13v2.02241,680,250 - 41,706,208 (+)NCBIT2T-CHM13v2.0
L3mbtl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391581,548,090 - 81,572,516 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1581,548,090 - 81,572,516 (+)EnsemblGRCm39 Ensembl
GRCm381581,663,889 - 81,688,315 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1581,663,889 - 81,688,315 (+)EnsemblGRCm38mm10GRCm38
MGSCv371581,494,366 - 81,518,735 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361581,491,191 - 81,515,560 (+)NCBIMGSCv36mm8
Celera1583,782,718 - 83,807,411 (+)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1538.19NCBI
L3mbtl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87115,066,427 - 115,087,625 (+)NCBIGRCr8
mRatBN7.27113,186,303 - 113,209,706 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7113,186,370 - 113,207,489 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7114,949,034 - 114,970,119 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07117,172,532 - 117,193,617 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07117,141,956 - 117,163,045 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07122,896,860 - 122,918,025 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7122,896,871 - 122,918,036 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07122,871,375 - 122,892,521 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,016,773 - 120,037,852 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17120,050,975 - 120,071,944 (+)NCBI
Celera7109,505,411 - 109,526,484 (+)NCBICelera
Cytogenetic Map7q34NCBI
L3mbtl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541326,831,066 - 26,851,859 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541326,831,065 - 26,847,638 (+)NCBIChiLan1.0ChiLan1.0
L3MBTL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22351,038,016 - 51,064,031 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12253,737,939 - 53,763,951 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02222,102,348 - 22,128,351 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12240,193,492 - 40,218,925 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2240,193,492 - 40,218,925 (+)Ensemblpanpan1.1panPan2
L3MBTL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11024,000,008 - 24,021,883 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1024,002,183 - 24,021,753 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,932,676 - 23,953,922 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01024,744,975 - 24,766,229 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1024,744,957 - 24,766,173 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11024,461,399 - 24,482,648 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01024,782,259 - 24,803,509 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01024,956,795 - 24,978,045 (-)NCBIUU_Cfam_GSD_1.0
L3mbtl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049457,632,020 - 7,656,038 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936492637,835 - 666,435 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936492642,434 - 666,402 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
L3MBTL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl57,253,644 - 7,277,576 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.157,257,806 - 7,277,633 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.254,509,562 - 4,530,093 (+)NCBISscrofa10.2Sscrofa10.2susScr3
L3MBTL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11923,749,894 - 23,774,749 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1923,750,212 - 23,776,947 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045101,649,621 - 101,674,624 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
L3mbtl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247527,292,852 - 7,309,856 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247527,291,888 - 7,309,379 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in L3MBTL2
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3 copy number gain See cases [RCV000050897] Chr22:40860894..41306006 [GRCh38]
Chr22:41256898..41702010 [GRCh37]
Chr22:39586844..40031956 [NCBI36]
Chr22:22q13.2		 uncertain significance
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33		 pathogenic
GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3 copy number gain See cases [RCV000134514] Chr22:40769910..41360090 [GRCh38]
Chr22:41165914..41756094 [GRCh37]
Chr22:39495860..40086040 [NCBI36]
Chr22:22q13.2		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.2(chr22:40233644-41655673)x3 copy number gain See cases [RCV000448955] Chr22:40233644..41655673 [GRCh37]
Chr22:22q13.1-13.2		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_031488.5(L3MBTL2):c.1670C>T (p.Thr557Met) single nucleotide variant Inborn genetic diseases [RCV003299790] Chr22:41227171 [GRCh38]
Chr22:41623175 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.557A>G (p.Lys186Arg) single nucleotide variant Inborn genetic diseases [RCV003245631] Chr22:41217159 [GRCh38]
Chr22:41613163 [GRCh37]
Chr22:22q13.2		 uncertain significance
NC_000022.10:g.(?_41264983)_(41729217_?)dup duplication Nephronophthisis-like nephropathy 1 [RCV000556646] Chr22:40868979..41333213 [GRCh38]
Chr22:41264983..41729217 [GRCh37]
Chr22:22q13.2		 uncertain significance
GRCh37/hg19 22q13.2(chr22:41568382-41673592)x3 copy number gain See cases [RCV000512234] Chr22:41568382..41673592 [GRCh37]
Chr22:22q13.2		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_031488.5(L3MBTL2):c.1057C>T (p.Leu353=) single nucleotide variant not provided [RCV000899914] Chr22:41224134 [GRCh38]
Chr22:41620138 [GRCh37]
Chr22:22q13.2		 benign
NM_031488.5(L3MBTL2):c.101G>C (p.Arg34Pro) single nucleotide variant not provided [RCV000950875] Chr22:41209772 [GRCh38]
Chr22:41605776 [GRCh37]
Chr22:22q13.2		 benign
GRCh37/hg19 22q13.2(chr22:41590999-41759326)x1 copy number loss not provided [RCV000846905] Chr22:41590999..41759326 [GRCh37]
Chr22:22q13.2		 uncertain significance
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_031488.5(L3MBTL2):c.759C>T (p.Asp253=) single nucleotide variant not provided [RCV000958242] Chr22:41220774 [GRCh38]
Chr22:41616778 [GRCh37]
Chr22:22q13.2		 benign
NM_031488.5(L3MBTL2):c.1213A>G (p.Lys405Glu) single nucleotide variant Inborn genetic diseases [RCV002748779] Chr22:41224763 [GRCh38]
Chr22:41620767 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.125G>A (p.Ser42Asn) single nucleotide variant Inborn genetic diseases [RCV003276678] Chr22:41209796 [GRCh38]
Chr22:41605800 [GRCh37]
Chr22:22q13.2		 uncertain significance
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.(?_41277754)_(43089957_?)dup duplication Immunodeficiency, common variable, 4 [RCV001979926] Chr22:41277754..43089957 [GRCh37]
Chr22:22q13.2		 uncertain significance
NC_000022.10:g.(?_35776672)_(42486826_?)dup duplication Adenylosuccinate lyase deficiency [RCV003119093] Chr22:35776672..42486826 [GRCh37]
Chr22:22q12.3-13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.874G>A (p.Asp292Asn) single nucleotide variant Inborn genetic diseases [RCV003259234] Chr22:41221219 [GRCh38]
Chr22:41617223 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.2017C>T (p.Arg673Cys) single nucleotide variant Inborn genetic diseases [RCV003264515] Chr22:41230150 [GRCh38]
Chr22:41626154 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.703G>A (p.Val235Ile) single nucleotide variant Inborn genetic diseases [RCV002860735] Chr22:41219521 [GRCh38]
Chr22:41615525 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.925G>A (p.Val309Met) single nucleotide variant Inborn genetic diseases [RCV002774530] Chr22:41221270 [GRCh38]
Chr22:41617274 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.1991C>G (p.Pro664Arg) single nucleotide variant Inborn genetic diseases [RCV002689315] Chr22:41229642 [GRCh38]
Chr22:41625646 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.1310T>C (p.Ile437Thr) single nucleotide variant Inborn genetic diseases [RCV002860794] Chr22:41225025 [GRCh38]
Chr22:41621029 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.89A>G (p.Tyr30Cys) single nucleotide variant Inborn genetic diseases [RCV002732017] Chr22:41209760 [GRCh38]
Chr22:41605764 [GRCh37]
Chr22:22q13.2		 uncertain significance
GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3 copy number gain not provided [RCV002475709] Chr22:39768795..41946225 [GRCh37]
Chr22:22q13.1-13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.808A>C (p.Ile270Leu) single nucleotide variant Inborn genetic diseases [RCV002837251] Chr22:41220823 [GRCh38]
Chr22:41616827 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.627T>A (p.Asp209Glu) single nucleotide variant Inborn genetic diseases [RCV002799219] Chr22:41219445 [GRCh38]
Chr22:41615449 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.575C>T (p.Ala192Val) single nucleotide variant Inborn genetic diseases [RCV002692343] Chr22:41217177 [GRCh38]
Chr22:41613181 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.9G>T (p.Lys3Asn) single nucleotide variant Inborn genetic diseases [RCV002783106] Chr22:41205371 [GRCh38]
Chr22:41601375 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.1538A>G (p.Tyr513Cys) single nucleotide variant Inborn genetic diseases [RCV002803585] Chr22:41226695 [GRCh38]
Chr22:41622699 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.2029G>A (p.Glu677Lys) single nucleotide variant Inborn genetic diseases [RCV002892409] Chr22:41230162 [GRCh38]
Chr22:41626166 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.901C>G (p.Leu301Val) single nucleotide variant Inborn genetic diseases [RCV002652301] Chr22:41221246 [GRCh38]
Chr22:41617250 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.1342G>A (p.Ala448Thr) single nucleotide variant Inborn genetic diseases [RCV002940139] Chr22:41225057 [GRCh38]
Chr22:41621061 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.518A>T (p.Asp173Val) single nucleotide variant Inborn genetic diseases [RCV002934115] Chr22:41216260 [GRCh38]
Chr22:41612264 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.20T>C (p.Ile7Thr) single nucleotide variant Inborn genetic diseases [RCV002855823] Chr22:41205382 [GRCh38]
Chr22:41601386 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.1231G>A (p.Val411Ile) single nucleotide variant Inborn genetic diseases [RCV002987856] Chr22:41224781 [GRCh38]
Chr22:41620785 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.1393G>A (p.Gly465Arg) single nucleotide variant Inborn genetic diseases [RCV002722327] Chr22:41225830 [GRCh38]
Chr22:41621834 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.652G>C (p.Val218Leu) single nucleotide variant Inborn genetic diseases [RCV003218086] Chr22:41219470 [GRCh38]
Chr22:41615474 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.232C>T (p.Arg78Cys) single nucleotide variant Inborn genetic diseases [RCV003185021] Chr22:41209903 [GRCh38]
Chr22:41605907 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.1771G>A (p.Val591Ile) single nucleotide variant Inborn genetic diseases [RCV003210710] Chr22:41227272 [GRCh38]
Chr22:41623276 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.230C>A (p.Pro77His) single nucleotide variant Inborn genetic diseases [RCV003220051] Chr22:41209901 [GRCh38]
Chr22:41605905 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.899G>A (p.Arg300Gln) single nucleotide variant Inborn genetic diseases [RCV003265921] Chr22:41221244 [GRCh38]
Chr22:41617248 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.2018G>A (p.Arg673His) single nucleotide variant Inborn genetic diseases [RCV003340088] Chr22:41230151 [GRCh38]
Chr22:41626155 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.697G>A (p.Ala233Thr) single nucleotide variant Inborn genetic diseases [RCV003364164] Chr22:41219515 [GRCh38]
Chr22:41615519 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_031488.5(L3MBTL2):c.1819G>A (p.Ala607Thr) single nucleotide variant Inborn genetic diseases [RCV003349285] Chr22:41227320 [GRCh38]
Chr22:41623324 [GRCh37]
Chr22:22q13.2		 likely benign
GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3 copy number gain Syndromic craniosynostosis [RCV003481509] Chr22:40545592..42096995 [GRCh37]
Chr22:22q13.1-13.2		 likely pathogenic
NM_031488.5(L3MBTL2):c.2088C>T (p.Val696=) single nucleotide variant not provided [RCV003437613] Chr22:41230221 [GRCh38]
Chr22:41626225 [GRCh37]
Chr22:22q13.2		 likely benign
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3 copy number gain not specified [RCV003986179] Chr22:39044105..45794212 [GRCh37]
Chr22:22q13.1-13.31		 pathogenic
GRCh37/hg19 22q13.2(chr22:41430641-41815625)x1 copy number loss not specified [RCV003986190] Chr22:41430641..41815625 [GRCh37]
Chr22:22q13.2		 pathogenic
GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1 copy number loss not specified [RCV003986188] Chr22:39935185..41752098 [GRCh37]
Chr22:22q13.1-13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3644
Count of miRNA genes:1005
Interacting mature miRNAs:1229
Transcripts:ENST00000216237, ENST00000449635, ENST00000450939, ENST00000452106, ENST00000453659, ENST00000466589, ENST00000479978, ENST00000481902, ENST00000489136
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
G43605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,626,912 - 41,627,198UniSTSGRCh37
Build 362239,956,858 - 39,957,144RGDNCBI36
Celera2225,433,292 - 25,433,578RGD
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
HuRef2224,591,376 - 24,591,662UniSTS
D22S1539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,627,091 - 41,627,210UniSTSGRCh37
GRCh372241,627,091 - 41,627,226UniSTSGRCh37
Build 362239,957,037 - 39,957,172RGDNCBI36
Celera2225,433,471 - 25,433,606RGD
Celera2225,433,471 - 25,433,590UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map22q13.2UniSTS
HuRef2224,591,555 - 24,591,674UniSTS
HuRef2224,591,555 - 24,591,690UniSTS
Stanford-G3 RH Map221384.0UniSTS
GeneMap99-G3 RH Map221384.0UniSTS
MARC_6537-6538:992007286:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,612,166 - 41,613,148UniSTSGRCh37
Build 362239,942,112 - 39,943,094RGDNCBI36
Celera2225,418,543 - 25,419,525RGD
HuRef2224,576,620 - 24,577,602UniSTS
GDB:631802  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map3q21-q22UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map2q21UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map20p11.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map2p24.1UniSTS
D22S1539  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map22q13.2UniSTS
Stanford-G3 RH Map221384.0UniSTS
GeneMap99-G3 RH Map221384.0UniSTS


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 2327 1916 1506 410 1392 255 3889 1435 3267 307 1421 1544 167 1171 2335 3 2
Low 112 1075 220 214 559 210 468 762 467 112 39 69 8 1 33 453 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_031488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ305226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ305227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU184979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ576322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000216237   ⟹   ENSP00000216237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,205,312 - 41,231,271 (+)Ensembl
RefSeq Acc Id: ENST00000449635   ⟹   ENSP00000399405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,209,696 - 41,221,367 (+)Ensembl
RefSeq Acc Id: ENST00000450939   ⟹   ENSP00000403767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,209,696 - 41,224,165 (+)Ensembl
RefSeq Acc Id: ENST00000452106   ⟹   ENSP00000414423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,205,324 - 41,231,271 (+)Ensembl
RefSeq Acc Id: ENST00000453659   ⟹   ENSP00000405849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,205,312 - 41,210,008 (+)Ensembl
RefSeq Acc Id: ENST00000466589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,205,309 - 41,230,654 (+)Ensembl
RefSeq Acc Id: ENST00000479978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,205,321 - 41,231,270 (+)Ensembl
RefSeq Acc Id: ENST00000481902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,205,282 - 41,227,810 (+)Ensembl
RefSeq Acc Id: ENST00000489136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,205,302 - 41,217,173 (+)Ensembl
RefSeq Acc Id: NM_031488   ⟹   NP_113676
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,205,312 - 41,231,271 (+)NCBI
GRCh372241,601,312 - 41,627,276 (+)NCBI
Build 362239,931,259 - 39,957,221 (+)NCBI Archive
Celera2225,407,662 - 25,433,655 (+)RGD
HuRef2224,565,907 - 24,591,739 (+)RGD
CHM1_12241,560,987 - 41,586,967 (+)NCBI
T2T-CHM13v2.02241,680,250 - 41,706,208 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028976   ⟹   XP_016884465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,205,312 - 41,231,271 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028977   ⟹   XP_016884466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,217,859 - 41,231,271 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441536   ⟹   XP_047297492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,205,312 - 41,227,843 (+)NCBI
RefSeq Acc Id: XM_047441537   ⟹   XP_047297493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,217,545 - 41,231,271 (+)NCBI
RefSeq Acc Id: XM_054325999   ⟹   XP_054181974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02241,680,250 - 41,702,780 (+)NCBI
RefSeq Acc Id: XM_054326000   ⟹   XP_054181975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02241,680,250 - 41,706,208 (+)NCBI
RefSeq Acc Id: XM_054326001   ⟹   XP_054181976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02241,692,796 - 41,706,208 (+)NCBI
RefSeq Acc Id: XM_054326002   ⟹   XP_054181977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02241,692,666 - 41,706,208 (+)NCBI
Protein Sequences
Protein RefSeqs NP_113676 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884465 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884466 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297492 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297493 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181974 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181975 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181976 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181977 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH17191 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34257 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34258 (Get FASTA)   NCBI Sequence Viewer  
  BAB84917 (Get FASTA)   NCBI Sequence Viewer  
  BAC04936 (Get FASTA)   NCBI Sequence Viewer  
  BAG51710 (Get FASTA)   NCBI Sequence Viewer  
  CAB66499 (Get FASTA)   NCBI Sequence Viewer  
  CAC37794 (Get FASTA)   NCBI Sequence Viewer  
  CAC37795 (Get FASTA)   NCBI Sequence Viewer  
  CAG30368 (Get FASTA)   NCBI Sequence Viewer  
  EAW60410 (Get FASTA)   NCBI Sequence Viewer  
  EAW60411 (Get FASTA)   NCBI Sequence Viewer  
  EAW60412 (Get FASTA)   NCBI Sequence Viewer  
  EAW60413 (Get FASTA)   NCBI Sequence Viewer  
  EAW60414 (Get FASTA)   NCBI Sequence Viewer  
  EAW60415 (Get FASTA)   NCBI Sequence Viewer  
  EAW60416 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000216237
  ENSP00000216237.5
  ENSP00000399405.1
  ENSP00000403767.1
  ENSP00000414423.1
GenBank Protein Q969R5 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_113676   ⟸   NM_031488
- UniProtKB: Q9BQI2 (UniProtKB/Swiss-Prot),   Q96SC4 (UniProtKB/Swiss-Prot),   Q8TEN1 (UniProtKB/Swiss-Prot),   Q9UGS4 (UniProtKB/Swiss-Prot),   Q969R5 (UniProtKB/Swiss-Prot),   A0A0S2Z5X6 (UniProtKB/TrEMBL),   B3KPJ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884465   ⟸   XM_017028976
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884466   ⟸   XM_017028977
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000403767   ⟸   ENST00000450939
RefSeq Acc Id: ENSP00000216237   ⟸   ENST00000216237
RefSeq Acc Id: ENSP00000414423   ⟸   ENST00000452106
RefSeq Acc Id: ENSP00000405849   ⟸   ENST00000453659
RefSeq Acc Id: ENSP00000399405   ⟸   ENST00000449635
RefSeq Acc Id: XP_047297492   ⟸   XM_047441536
- Peptide Label: isoform X1
- UniProtKB: A0A0S2Z5Q2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297493   ⟸   XM_047441537
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054181975   ⟸   XM_054326000
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054181974   ⟸   XM_054325999
- Peptide Label: isoform X1
- UniProtKB: A0A0S2Z5Q2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181977   ⟸   XM_054326002
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054181976   ⟸   XM_054326001
- Peptide Label: isoform X3
Protein Domains
FCS-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q969R5-F1-model_v2 AlphaFold Q969R5 1-705 view protein structure

Promoters
RGD ID:6800076
Promoter ID:HG_KWN:42960
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000320613,   OTTHUMT00000320614,   OTTHUMT00000320616,   OTTHUMT00000320618,   OTTHUMT00000320619,   UC003AZN.1,   UC010GYI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362239,931,104 - 39,931,604 (+)MPROMDB
RGD ID:13604236
Promoter ID:EPDNEW_H28302
Type:initiation region
Name:L3MBTL2_1
Description:L3MBTL2 polycomb repressive complex 1 subunit
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
GRCh382241,205,312 - 41,205,372EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18594 AgrOrtholog
COSMIC L3MBTL2 COSMIC
Ensembl Genes ENSG00000100395 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000216237 ENTREZGENE
  ENST00000216237.10 UniProtKB/Swiss-Prot
  ENST00000449635.5 UniProtKB/TrEMBL
  ENST00000450939.1 UniProtKB/TrEMBL
  ENST00000452106.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.30.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.60.160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100395 GTEx
HGNC ID HGNC:18594 ENTREZGENE
Human Proteome Map L3MBTL2 Human Proteome Map
InterPro Mbt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MBT_L3MBTL2_rpt1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MBT_L3MBTL2_rpt2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FCS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FCS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83746 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 83746 ENTREZGENE
OMIM 611865 OMIM
PANTHER POLYCOMB GROUP PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12247:SF64 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MBT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-FCS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38356 PharmGKB
PROSITE MBT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_FCS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MBT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Tudor/PWWP/MBT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z5Q2 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z5X6 ENTREZGENE, UniProtKB/TrEMBL
  B3KPJ8 ENTREZGENE, UniProtKB/TrEMBL
  H0Y5M2_HUMAN UniProtKB/TrEMBL
  H7C228_HUMAN UniProtKB/TrEMBL
  LMBL2_HUMAN UniProtKB/Swiss-Prot
  Q8TEN1 ENTREZGENE
  Q969R5 ENTREZGENE
  Q96SC4 ENTREZGENE
  Q9BQI2 ENTREZGENE
  Q9UGS4 ENTREZGENE
UniProt Secondary Q8TEN1 UniProtKB/Swiss-Prot
  Q96SC4 UniProtKB/Swiss-Prot
  Q9BQI2 UniProtKB/Swiss-Prot
  Q9UGS4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 L3MBTL2  L3MBTL histone methyl-lysine binding protein 2    L3MBTL2, polycomb repressive complex 1 subunit  Symbol and/or name change 5135510 APPROVED
2017-05-30 L3MBTL2  L3MBTL2, polycomb repressive complex 1 subunit    L3MBTL2 polycomb repressive complex 1 subunit  Symbol and/or name change 5135510 APPROVED
2016-04-26 L3MBTL2  L3MBTL2 polycomb repressive complex 1 subunit    l(3)mbt-like 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED