BORCS8-MEF2B (BORCS8-MEF2B readthrough) - Rat Genome Database

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Gene: BORCS8-MEF2B (BORCS8-MEF2B readthrough) Homo sapiens
Analyze
No known orthologs.
Symbol: BORCS8-MEF2B (Ensembl: MEF2B)
Name: BORCS8-MEF2B readthrough (Ensembl:myocyte enhancer factor 2B)
RGD ID: 2304753
HGNC Page HGNC:39979
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and histone deacetylase binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cell junction; cytosol; and nucleoplasm. Part of transcription regulator complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: LOC729991-MEF2B; LOC729991-MEF2B readthrough; MEF2B; MEF2BNB-MEF2B; MEF2BNB-MEF2B readthrough; myocyte enhancer factor 2B; myocyte-specific enhancer factor 2B; RSRFR2; serum response factor-like protein 2
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381919,145,567 - 19,192,152 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1919,145,567 - 19,192,131 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl1919,145,569 - 19,192,158 (-)EnsemblGRCh38hg38GRCh38
GRCh371919,256,376 - 19,302,961 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361919,117,378 - 19,163,937 (-)NCBINCBI36Build 36hg18NCBI36
Celera1919,161,210 - 19,208,203 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1918,820,880 - 18,867,171 (-)NCBIHuRef
CHM1_11919,256,090 - 19,303,916 (-)NCBICHM1_1
T2T-CHM13v2.01919,282,103 - 19,328,701 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1516833   PMID:1748287   PMID:7760790   PMID:10531067   PMID:11230166   PMID:12477932   PMID:12700764   PMID:14702039   PMID:15057824   PMID:15489334   PMID:16189514   PMID:16344560  
PMID:19453261   PMID:19913121   PMID:20379614   PMID:20967262   PMID:21873635   PMID:23382691   PMID:28473536   PMID:28514442   PMID:32296183   PMID:32513696   PMID:33961781  


Genomics

Variants

.
Variants in BORCS8-MEF2B
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001145785.1(MEF2B):c.-21C>T single nucleotide variant Malignant melanoma [RCV000063466] Chr19:19150756 [GRCh38]
Chr19:19261565 [GRCh37]
Chr19:19122565 [NCBI36]
Chr19:19p13.11		 not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12		 pathogenic|likely pathogenic
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11		 pathogenic
NM_005919.4(BORCS8-MEF2B):c.1064C>T (p.Ser355Phe) single nucleotide variant not specified [RCV004321838] Chr19:19145728 [GRCh38]
Chr19:19256537 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.259G>A (p.Val87Met) single nucleotide variant not specified [RCV004295291] Chr19:19182640 [GRCh38]
Chr19:19293449 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145785.2(MEF2B):c.453C>A (p.Gly151=) single nucleotide variant not provided [RCV000971340] Chr19:19147124 [GRCh38]
Chr19:19257933 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_001145785.2(MEF2B):c.781G>A (p.Gly261Arg) single nucleotide variant not specified [RCV004301012] Chr19:19146373 [GRCh38]
Chr19:19257182 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005919.4(BORCS8-MEF2B):c.620G>A (p.Arg207Gln) single nucleotide variant not specified [RCV004301288] Chr19:19146797 [GRCh38]
Chr19:19257606 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.254G>A (p.Arg85His) single nucleotide variant not specified [RCV004289410] Chr19:19182645 [GRCh38]
Chr19:19293454 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.119G>A (p.Arg40His) single nucleotide variant not specified [RCV004113754] Chr19:19186924 [GRCh38]
Chr19:19297733 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.85T>C (p.Ser29Pro) AND NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY single nucleotide variant NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES [RCV004765381]|not specified [RCV004244314] Chr19:19186958 [GRCh38]
Chr19:19297767 [GRCh37]
Chr19:19p13.11		 pathogenic|uncertain significance
NM_005919.4(BORCS8-MEF2B):c.340C>T (p.Arg114Trp) single nucleotide variant not specified [RCV004216632] Chr19:19147751 [GRCh38]
Chr19:19258560 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005919.4(BORCS8-MEF2B):c.992G>A (p.Gly331Asp) single nucleotide variant not specified [RCV004223685] Chr19:19145800 [GRCh38]
Chr19:19256609 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145785.2(MEF2B):c.848G>T (p.Gly283Val) single nucleotide variant not specified [RCV004192205] Chr19:19146306 [GRCh38]
Chr19:19257115 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005919.4(BORCS8-MEF2B):c.881C>T (p.Ala294Val) single nucleotide variant not specified [RCV004084567] Chr19:19145911 [GRCh38]
Chr19:19256720 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.74C>G (p.Ala25Gly) single nucleotide variant not specified [RCV004104398] Chr19:19186969 [GRCh38]
Chr19:19297778 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.292C>T (p.Arg98Trp) single nucleotide variant not specified [RCV004164060] Chr19:19182607 [GRCh38]
Chr19:19293416 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005919.4(BORCS8-MEF2B):c.1043G>C (p.Arg348Thr) single nucleotide variant not specified [RCV004111282] Chr19:19145749 [GRCh38]
Chr19:19256558 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.220G>A (p.Val74Met) single nucleotide variant not specified [RCV004151740] Chr19:19182679 [GRCh38]
Chr19:19293488 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005919.4(BORCS8-MEF2B):c.1087A>T (p.Thr363Ser) single nucleotide variant not specified [RCV004196001] Chr19:19145705 [GRCh38]
Chr19:19256514 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.88G>A (p.Val30Met) single nucleotide variant not specified [RCV004096046] Chr19:19186955 [GRCh38]
Chr19:19297764 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.244G>A (p.Val82Ile) single nucleotide variant not specified [RCV004079425] Chr19:19182655 [GRCh38]
Chr19:19293464 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005919.4(BORCS8-MEF2B):c.28C>T (p.Arg10Cys) single nucleotide variant not specified [RCV004153627] Chr19:19150708 [GRCh38]
Chr19:19261517 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.79G>A (p.Glu27Lys) single nucleotide variant not specified [RCV004136606] Chr19:19186964 [GRCh38]
Chr19:19297773 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005919.4(BORCS8-MEF2B):c.496C>T (p.Arg166Cys) single nucleotide variant not specified [RCV004142441] Chr19:19147081 [GRCh38]
Chr19:19257890 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005919.4(BORCS8-MEF2B):c.1054G>A (p.Asp352Asn) single nucleotide variant not specified [RCV004079095] Chr19:19145738 [GRCh38]
Chr19:19256547 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.11C>T (p.Pro4Leu) single nucleotide variant not specified [RCV004258020] Chr19:19192107 [GRCh38]
Chr19:19302916 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005919.4(BORCS8-MEF2B):c.1028C>T (p.Ser343Leu) single nucleotide variant not specified [RCV004248193] Chr19:19145764 [GRCh38]
Chr19:19256573 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005919.4(BORCS8-MEF2B):c.923G>T (p.Gly308Val) single nucleotide variant not specified [RCV004260933] Chr19:19145869 [GRCh38]
Chr19:19256678 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.59G>A (p.Ser20Asn) single nucleotide variant not specified [RCV004327870] Chr19:19186984 [GRCh38]
Chr19:19297793 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.157A>G (p.Met53Val) single nucleotide variant not specified [RCV004347120] Chr19:19186092 [GRCh38]
Chr19:19296901 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005919.4(BORCS8-MEF2B):c.1034G>C (p.Gly345Ala) single nucleotide variant not specified [RCV004349432] Chr19:19145758 [GRCh38]
Chr19:19256567 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145785.2(MEF2B):c.991G>A (p.Gly331Ser) single nucleotide variant not specified [RCV004423945] Chr19:19145913 [GRCh38]
Chr19:19256722 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.320G>T (p.Gly107Val) single nucleotide variant not specified [RCV004434120] Chr19:19182579 [GRCh38]
Chr19:19293388 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005919.4(BORCS8-MEF2B):c.1019C>T (p.Pro340Leu) single nucleotide variant not specified [RCV004434121] Chr19:19145773 [GRCh38]
Chr19:19256582 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.163C>T (p.Arg55Cys) single nucleotide variant not specified [RCV004434118] Chr19:19186086 [GRCh38]
Chr19:19296895 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_005919.4(BORCS8-MEF2B):c.191G>A (p.Arg64His) single nucleotide variant not specified [RCV004434123] Chr19:19149293 [GRCh38]
Chr19:19260102 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145784.2(BORCS8):c.254G>T (p.Arg85Leu) single nucleotide variant not specified [RCV004434119] Chr19:19182645 [GRCh38]
Chr19:19293454 [GRCh37]
Chr19:19p13.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2898
Count of miRNA genes:769
Interacting mature miRNAs:920
Transcripts:ENST00000354191, ENST00000444486, ENST00000514819, ENST00000602276, ENST00000602438, ENST00000602689, ENST00000602804
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406966406GWAS615382_Hserum IgG glycosylation measurement QTL GWAS615382 (human)0.000009schizophrenia191916555019165551Human
407079947GWAS728923_Hmean arterial pressure QTL GWAS728923 (human)9e-08mean arterial pressuremean arterial blood pressure (CMO:0000009)191915312919153130Human
407246862GWAS895838_Hsystolic blood pressure QTL GWAS895838 (human)2e-09systolic blood pressuresystolic blood pressure (CMO:0000004)191915603919156040Human
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
407244055GWAS893031_Hbody height QTL GWAS893031 (human)3e-15body height (VT:0001253)body height (CMO:0000106)191918872619188727Human
407251345GWAS900321_Htotal blood protein measurement QTL GWAS900321 (human)2e-09total blood protein measurementblood protein measurement (CMO:0000028)191916068919160690Human
407248350GWAS897326_Hdiastolic blood pressure QTL GWAS897326 (human)2e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)191917526819175269Human
407070618GWAS719594_Hdiastolic blood pressure QTL GWAS719594 (human)3e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)191914987719149878Human
407347098GWAS996074_Hdiastolic blood pressure QTL GWAS996074 (human)5e-12diastolic blood pressurediastolic blood pressure (CMO:0000005)191915104219151043Human
407412328GWAS1061304_Hcomplex trait QTL GWAS1061304 (human)5e-08complex trait191917245919172460Human
407242404GWAS891380_Hbody height QTL GWAS891380 (human)3e-10body height (VT:0001253)body height (CMO:0000106)191915718119157182Human
407384619GWAS1033595_Hmultiple sclerosis QTL GWAS1033595 (human)0.000008multiple sclerosis191916659319166594Human
407146594GWAS795570_Hbody height QTL GWAS795570 (human)0.000004body height (VT:0001253)body height (CMO:0000106)191917769219177693Human
407153186GWAS802162_Htriglyceride measurement QTL GWAS802162 (human)1e-09triglyceride measurementblood triglyceride level (CMO:0000118)191919037719190378Human
407221228GWAS870204_Heducational attainment QTL GWAS870204 (human)9e-10educational attainment191917283719172838Human
407084009GWAS732985_Hdiastolic blood pressure QTL GWAS732985 (human)9e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)191914987719149878Human
407100015GWAS748991_Hobsessive-compulsive symptom measurement QTL GWAS748991 (human)3e-08obsessive-compulsive symptom measurement191918827019188271Human
407396135GWAS1045111_Hlow density lipoprotein cholesterol measurement QTL GWAS1045111 (human)5e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)191918915219189153Human
407193332GWAS842308_Heducational attainment QTL GWAS842308 (human)5e-08educational attainment191916492619164927Human
407086064GWAS735040_Hmean arterial pressure QTL GWAS735040 (human)1e-09mean arterial pressuremean arterial blood pressure (CMO:0000009)191915312919153130Human
407246898GWAS895874_Hmean arterial pressure QTL GWAS895874 (human)3e-10mean arterial pressuremean arterial blood pressure (CMO:0000009)191915603919156040Human
407067062GWAS716038_Hsystolic blood pressure QTL GWAS716038 (human)0.000006systolic blood pressuresystolic blood pressure (CMO:0000004)191915312919153130Human
407079354GWAS728330_Hmean arterial pressure QTL GWAS728330 (human)6e-08mean arterial pressuremean arterial blood pressure (CMO:0000009)191914987719149878Human
407070841GWAS719817_Hdiastolic blood pressure QTL GWAS719817 (human)0.0000001diastolic blood pressurediastolic blood pressure (CMO:0000005)191915312919153130Human
407159486GWAS808462_Hlow density lipoprotein cholesterol measurement QTL GWAS808462 (human)5e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)191919037719190378Human
407196539GWAS845515_Hschizophrenia, sex interaction measurement QTL GWAS845515 (human)0.000005schizophrenia, sex interaction measurement191916555019165551Human
407198330GWAS847306_Hschizophrenia, sex interaction measurement QTL GWAS847306 (human)0.000008schizophrenia, sex interaction measurement191916555019165551Human

Markers in Region
A006X47  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371919,287,773 - 19,287,899UniSTSGRCh37
Build 361919,148,773 - 19,148,899RGDNCBI36
Celera1919,192,607 - 19,192,733RGD
Cytogenetic Map19p13.11UniSTS
HuRef1918,851,569 - 18,851,696UniSTS
GeneMap99-GB4 RH Map19105.07UniSTS
D19S648E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371919,292,759 - 19,292,926UniSTSGRCh37
Build 361919,153,759 - 19,153,926RGDNCBI36
Celera1919,197,561 - 19,197,728RGD
Cytogenetic Map19p13.11UniSTS
HuRef1918,856,523 - 18,856,690UniSTS
GeneMap99-GB4 RH Map19102.21UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
194 2 44 450 210 532 5 147 715 150 292 1275 788 53 164 1 271 302 361 12 1

Sequence


Ensembl Acc Id: ENST00000354191   ⟹   ENSP00000457957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,145,569 - 19,192,158 (-)Ensembl
Ensembl Acc Id: ENST00000514819   ⟹   ENSP00000454967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,145,584 - 19,192,138 (-)Ensembl
Ensembl Acc Id: ENST00000602276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,146,868 - 19,182,347 (-)Ensembl
Ensembl Acc Id: ENST00000602438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,149,293 - 19,192,147 (-)Ensembl
Ensembl Acc Id: ENST00000602689   ⟹   ENSP00000473369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,150,686 - 19,192,122 (-)Ensembl
Ensembl Acc Id: ENST00000602804   ⟹   ENSP00000473577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,145,572 - 19,192,158 (-)Ensembl
Ensembl Acc Id: ENST00000630940   ⟹   ENSP00000486975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,145,570 - 19,192,128 (-)Ensembl
RefSeq Acc Id: NM_005919   ⟹   NP_005910
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381919,145,567 - 19,192,152 (-)NCBI
GRCh371919,256,376 - 19,303,400 (-)RGD
Build 361919,117,378 - 19,163,937 (-)NCBI Archive
Celera1919,161,210 - 19,208,203 (-)RGD
HuRef1918,820,880 - 18,867,171 (-)RGD
CHM1_11919,256,090 - 19,303,916 (-)NCBI
T2T-CHM13v2.01919,282,103 - 19,328,701 (-)NCBI
Sequence:
RefSeq Acc Id: NR_027307
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381919,145,567 - 19,192,152 (-)NCBI
GRCh371919,256,376 - 19,303,400 (-)RGD
Celera1919,161,210 - 19,208,203 (-)RGD
HuRef1918,820,880 - 18,867,171 (-)RGD
CHM1_11919,256,090 - 19,303,916 (-)NCBI
T2T-CHM13v2.01919,282,103 - 19,328,701 (-)NCBI
Sequence:
RefSeq Acc Id: NR_027308
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381919,145,567 - 19,192,152 (-)NCBI
GRCh371919,256,376 - 19,303,400 (-)RGD
Celera1919,161,210 - 19,208,203 (-)RGD
HuRef1918,820,880 - 18,867,171 (-)RGD
CHM1_11919,256,090 - 19,303,916 (-)NCBI
T2T-CHM13v2.01919,282,103 - 19,328,701 (-)NCBI
Sequence:
RefSeq Acc Id: NP_005910   ⟸   NM_005919
- Peptide Label: isoform b
- UniProtKB: B7ZVY1 (UniProtKB/Swiss-Prot),   B4DVH7 (UniProtKB/Swiss-Prot),   A0AV80 (UniProtKB/Swiss-Prot),   G5E9M1 (UniProtKB/Swiss-Prot),   Q02080 (UniProtKB/Swiss-Prot),   H3BNR1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000473577   ⟸   ENST00000602804
Ensembl Acc Id: ENSP00000473369   ⟸   ENST00000602689
Ensembl Acc Id: ENSP00000457957   ⟸   ENST00000354191
Ensembl Acc Id: ENSP00000486975   ⟸   ENST00000630940
Ensembl Acc Id: ENSP00000454967   ⟸   ENST00000514819
Protein Domains
MADS-box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02080-F1-model_v2 AlphaFold Q02080 1-365 view protein structure

Promoters
RGD ID:6795804
Promoter ID:HG_KWN:29339
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000336100
Position:
Human AssemblyChrPosition (strand)Source
Build 361919,123,129 - 19,123,629 (-)MPROMDB
RGD ID:6795806
Promoter ID:HG_KWN:29340
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000409224,   NM_001145785,   UC002NLM.1,   UC002NLN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361919,141,816 - 19,142,316 (-)MPROMDB
RGD ID:6795793
Promoter ID:HG_KWN:29341
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000354191,   NM_001145783,   NM_001145784,   NM_005919,   NR_027307,   OTTHUMT00000336090,   OTTHUMT00000336092,   OTTHUMT00000336096,   OTTHUMT00000336097,   OTTHUMT00000336099,   UC010ECB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361919,163,831 - 19,164,331 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:39979 AgrOrtholog
COSMIC BORCS8-MEF2B COSMIC
Ensembl Genes ENSG00000064489 Ensembl, UniProtKB/TrEMBL
  ENSG00000213999 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000424583.7 UniProtKB/Swiss-Prot
  ENST00000444486 ENTREZGENE
  ENST00000444486.7 UniProtKB/Swiss-Prot
  ENST00000514819.7 UniProtKB/TrEMBL
Gene3D-CATH 3.40.1810.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000064489 GTEx
  ENSG00000213999 GTEx
HGNC ID HGNC:39979 ENTREZGENE
Human Proteome Map BORCS8-MEF2B Human Proteome Map
InterPro MADS-box/MEF2_TF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MADS_MEF2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_MADSbox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_MADSbox_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100271849 UniProtKB/Swiss-Prot
  hsa:4207 UniProtKB/Swiss-Prot
NCBI Gene 4207 ENTREZGENE
PANTHER MYOCYTE-SPECIFIC ENHANCER FACTOR 2A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERUM RESPONSE FACTOR HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SRF-TF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS MADSDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MADS_BOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MADS_BOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MADS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55455 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0AV80 ENTREZGENE
  B4DVH7 ENTREZGENE
  B7ZVY1 ENTREZGENE
  G5E9M1 ENTREZGENE
  H3BNR1 ENTREZGENE, UniProtKB/TrEMBL
  MEF2B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0AV80 UniProtKB/Swiss-Prot
  B4DVH7 UniProtKB/Swiss-Prot
  B7ZVY1 UniProtKB/Swiss-Prot
  G5E9M1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 BORCS8-MEF2B  BORCS8-MEF2B readthrough  MEF2BNB-MEF2B  MEF2BNB-MEF2B readthrough  Symbol and/or name change 5135510 APPROVED
2011-07-27 MEF2BNB-MEF2B  MEF2BNB-MEF2B readthrough  LOC729991-MEF2B  LOC729991-MEF2B readthrough transcript  Symbol and/or name change 5135510 APPROVED