H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000498213 Accession number: AK303589 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Lamin-B receptor; Integral nuclear envelope inner membrane protein; LMN2R;
 
 

Transcript original information
Accession number AK303589.1
CAGE tag ID NA
EST ID NA
Clone Number THYMU3038984
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (LBR) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (LBR);
Sequence data provider NA
Annotation project NA
Length of cDNA 1089[bp] (No. of exon:8)[A:299 T:284 G:266 C:240]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type thymus
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature C-truncated
Kozak sequence NA
PolyA NA
Vector/adapter sequence NA
Frame shift 447-448[bp] Deletion(G);
Remaining intron NA
Splice site acceptor (NAGNAG) TAGAAG; 
Transcript quality feature Truncation; 
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0001633
Genomic location  G-integra Help Chromosome 1
Location 1q42.12
Position 225600232- 225615755
Strand -
Possible duplicated location(s) NA
Gene structure 8 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:3930
KEGG GENES KEGG GENES(3930)
GeneCard GeneCardLBR*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS;  G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000468932
Predicted CDS 115..1089;  325[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.723

Motif information
ORF

length(325),orf(115:1089)
MPSRKFADGEVVRGRWPGSSLYYEVEILSHDSTSQLYTVKYKDGTELELK
ENDIKPLTSFRQRKGGSTSSSPSRRRGSRSRSRSRSPGRPPKSARRSASA
SHQADIKEARREPFGNSISRYNGEPEHIERNDAPHKNTQEKFNLSQESSY
IATQYSLRPRREEVKLKEIDSKEEKYVAKELAVRTFEVTPIRAKDLEFGG
VPGVFLIMFGLPVFLFLLLLMCKQKDPSLLNFPPPLPALYELWETRVFGV
YLLWFLIQVLFYLLPIGKVVEGTPLIDGRRLKYRLNGFYAFILTSAVIGT
SLFQGVEFHYVYSHFLQFALAATVF
a.a.
length
InterPro Name
length(55), motif(1:55) 55 IPR019023 Lamin-B receptor of TUDOR domain [Domain]
length(59), motif(4:62) 59 IPR002999 Tudor domain [Domain]
length(137), motif(189:325) 137 IPR001171 Ergosterol biosynthesis ERG4/ERG24 [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000498213
H-Inv cluster ID Locus viewHIX0001633
Accession number AK303589.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Similar to Lamin-B receptor; Integral nuclear envelope inner membrane protein; LMN2R;
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (Q14739)  [Identity/coverage = 99.385%/54.63%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 81576628157663916947210049757108289631211825012618959146170221470203915489334158829671708198318669648196088612006823120522425212694602140669221795390ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol LBR
HGNC aliases NA
HGNC name lamin B receptor
DDBJ NA
UniProt LBR
EC number NA
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000468932
No. of interaction NA
Interaction partner(s) NA
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:3930
KEGG GENES KEGG GENES(3930)
GeneCard GeneCardLBR*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool;  TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Cellular component membrane (GO:0016020); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT plasma membrane; 
Target P Other
SOSUI membrane protein
TMHMM membrane protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Greenberg dysplasia (215140);  Disease name: Pelger-Huet anomaly (169400); 
Related information in OMIM OMIM ID:  600024;  Title: LAMIN B RECEPTOR
Co-localized orphan diseases NA
Disease related mutation MutationView:  600024
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(3930)
Disease Entrez Gene ID:(3930)
Substance Entrez Gene ID:(3930)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
74 .. 74 C/T rs1056605 + 5'UTR
135 .. 135 C/T rs184378202 - CDS Synonymous[Ala7Ala]
157 .. 157 C/T rs192681330 - CDS AA-STOP[Arg15*]
163 .. 163 C/T rs188150385 - CDS Nonsynonymous[Pro17Ser]
204 .. 204 C/T rs2230416 + CDS Synonymous[His30His]
205 .. 205 G/A rs149920625 - CDS Nonsynonymous[Asp31Asn]
211 .. 211 A/G rs200756121 - CDS Nonsynonymous[Thr33Ala]
231 .. 231 A/G rs1056607 + CDS Synonymous[Val39Val]
233 .. 233 A/G rs144210597 - CDS Nonsynonymous[Lys40Arg]
350 .. 350 G/A rs150911670 - CDS Nonsynonymous[Arg79Gln]
375 .. 375 C/T rs1056608 + CDS Synonymous[Pro87Pro]
385 .. 385 C/T rs201003932 - CDS Nonsynonymous[Pro91Ser]
397 .. 397 C/T rs11551873 + CDS Nonsynonymous[Arg95Cys]
402 .. 402 A/G rs201694077 - CDS Synonymous[Arg96Arg]
420 .. 420 C/G rs199784853 - CDS Nonsynonymous[His102Gln]
426 .. 426 C/T rs146953852 - CDS Synonymous[Ala104Ala]
430 .. 430 A/G rs200648839 - CDS Nonsynonymous[Ile106Val]
452 .. 452 C/A rs201699817 - CDS Nonsynonymous[Pro113Gln]
462 .. 462 T/C rs150998038 - CDS Synonymous[Asn116Asn]
510 .. 510 C/T rs190140540 - CDS Synonymous[Asp132Asp]
542 .. 542 A/G rs2230419 + CDS Nonsynonymous[Asn143Ser]
568 .. 568 G/C rs144270114 - CDS Nonsynonymous[Ala152Pro]
586 .. 586 C/T rs2230420 + CDS Nonsynonymous[Arg158Cys]
642 .. 642 C/T rs151100686 - CDS Synonymous[Tyr176Tyr]
643 .. 643 G/A rs199796274 - CDS Nonsynonymous[Val177Ile]
656 .. 656 T/G rs149760565 - CDS Nonsynonymous[Leu181Arg]
661 .. 661 G/A rs139988587 - CDS Nonsynonymous[Val183Met]
669 .. 669 C/G rs138462331 - CDS Synonymous[Thr185Thr]
680 .. 680 C/A rs200288588 - CDS Nonsynonymous[Thr189Asn]
689 .. 689 G/A rs142747191 - CDS Nonsynonymous[Arg192Gln]
737 .. 737 T/C rs2230421 + CDS Nonsynonymous[Met208Thr]
740 .. 740 T/C rs201056244 - CDS Nonsynonymous[Phe209Ser]
824 .. 824 C/T rs140008883 - CDS Nonsynonymous[Pro237Leu]
827 .. 827 C/A rs200781118 - CDS Nonsynonymous[Ala238Asp]
871 .. 871 C/T rs140355742 - CDS Synonymous[Leu253Leu]
892 .. 892 C/T rs34682825 - CDS Synonymous[Leu260Leu]
924 .. 924 A/G rs61749339 - CDS Synonymous[Val270Val]
930 .. 930 A/C rs199886849 - CDS Synonymous[Gly272Gly]
941 .. 941 T/C rs201093644 - CDS Nonsynonymous[Ile276Thr]
947 .. 947 G/A rs148541545 - CDS Nonsynonymous[Gly278Glu]
980 .. 980 A/G rs2230422 + CDS Nonsynonymous[Tyr289Cys]
982 .. 982 G/C rs1134839 + CDS Nonsynonymous[Ala290Pro]
1008 .. 1008 C/T rs143164834 - CDS Synonymous[Ile298Ile]
1012 .. 1012 A/G rs2275601 + CDS Nonsynonymous[Thr300Ala]
1029 .. 1029 C/T rs139528051 - CDS Synonymous[Gly305Gly]
1032 .. 1032 A/G rs199748938 - CDS Synonymous[Val306Val]
1040 .. 1040 A/G rs201654506 - CDS Nonsynonymous[His309Arg]
1045 .. 1045 G/A rs145104817 - CDS Nonsynonymous[Val311Met]
1072 .. 1072 C/G rs201609720 - CDS Nonsynonymous[Leu320Val]
1076 .. 1076 C/T rs141647564 - CDS Nonsynonymous[Ala321Val]
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer