H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
H-Inv gene family/group (HIF)
Accession number
Chromosome number
Chromosome band
Definition*
Data source ID
---
CCDS ID
dbSNP ID (rs number)
EC number
Ensembl ID
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FR ID
FR Accession number
GO ID
GO name*
HGNC gene symbol
HGNC gene name*
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InterPro name*
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OMIM title*
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Pathway name*
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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;
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
AK303589.1
CAGE tag ID
NA
EST ID
NA
Clone Number
THYMU3038984
Experimental resources
NBRC
;
HGPD
;
Antibody (LBR)
;
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
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
AGAGCGCGGCCGGGTAGCGTCGCGCGCGTGGATCTGCCGCCGGGTTGCTG TGCGACTATTCTCCGGGAGCCGTCCGTGTCACCGCCGGAACCTGGCGCAG GTTAATTATAGAAAATGCCAAGTAGGAAATTTGCCGATGGTGAAGTGGTA AGAGGTCGATGGCCTGGGAGTTCACTTTATTATGAAGTAGAAATTCTGAG CCACGACAGCACCTCCCAGCTTTACACTGTAAAGTATAAAGATGGAACAG AGCTTGAATTGAAAGAGAATGATATTAAGCCTTTAACTTCCTTTAGGCAA AGGAAAGGTGGCTCAACTTCCAGTTCCCCTTCCAGACGCCGAGGGAGTCG ATCAAGGTCACGCTCCCGATCCCCCGGTCGACCACCTAAAAGTGCCCGCC GATCTGCTTCTGCTTCCCACCAGGCCGACATTAAGGAAGCAAGGAGAGAG CCATTTGGAAATAGCATCAGCAGATATAATGGGGAGCCTGAGCATATTGA GAGAAATGACGCACCTCATAAAAATACACAGGAAAAATTCAATTTGTCAC AAGAAAGCAGTTACATAGCAACACAGTATAGCCTTCGTCCAAGAAGAGAA GAAGTCAAATTAAAAGAAATAGATTCTAAGGAAGAAAAATACGTTGCAAA AGAACTGGCAGTGAGAACCTTTGAAGTGACCCCCATCCGGGCAAAGGACT TGGAGTTTGGAGGAGTACCTGGTGTGTTTCTCATCATGTTTGGCCTGCCT GTGTTCCTCTTCCTGTTGCTGTTGATGTGTAAACAGAAAGATCCCAGTCT TCTGAATTTCCCTCCTCCTTTGCCAGCTTTGTATGAGTTATGGGAAACCA GAGTATTTGGGGTCTACCTCCTGTGGTTTTTGATTCAAGTCCTGTTCTAC CTACTGCCAATTGGAAAGGTTGTAGAAGGAACGCCTCTTATTGATGGAAG AAGACTCAAGTATAGATTAAATGGATTCTATGCTTTTATCCTGACATCTG CAGTCATCGGAACATCTCTCTTCCAGGGCGTAGAGTTTCATTACGTGTAC AGTCATTTTCTTCAGTTTGCACTTGCGGCCACTGTTTTT
Gene structure information
H-Inv cluster ID
HIX0001633
Genomic location
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
LBR
;
*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links
H-DBAS;
G-integra
;
cDNA-genome alignment
;
Predicted CDS information
HIP ID
HIP000468932
Predicted CDS
115..1089; 325[aa]; Orientation:+1;
Codon Adaptation Index (CAI).
0.723
MPSRKFADGEVVRGRWPGSSLYYEVEILSHDSTSQLYTVKYKDGTELELK ENDIKPLTSFRQRKGGSTSSSPSRRRGSRSRSRSRSPGRPPKSARRSASA SHQADIKEARREPFGNSISRYNGEPEHIERNDAPHKNTQEKFNLSQESSY IATQYSLRPRREEVKLKEIDSKEEKYVAKELAVRTFEVTPIRAKDLEFGG VPGVFLIMFGLPVFLFLLLLMCKQKDPSLLNFPPPLPALYELWETRVFGV YLLWFLIQVLFYLLPIGKVVEGTPLIDGRRLKYRLNGFYAFILTSAVIGT SLFQGVEFHYVYSHFLQFALAATVF
Motif information
a.a.
length
InterPro
Name
55
IPR019023
Lamin-B receptor of TUDOR domain [Domain]
59
IPR002999
Tudor domain [Domain]
137
IPR001171
Ergosterol biosynthesis ERG4/ERG24 [Family]
Gene function information
H-Inv ID
HIT000498213
H-Inv cluster ID
HIX0001633
Accession number
AK303589.1
CAGE tag ID
NA
EST ID
NA
Transcript feature
NO;
Coding potential
Protein coding;
Definition
Similar to Lamin-B receptor; Integral nuclear envelope inner membrane protein; LMN2R;
Similarity category
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
8157662
;
8157663
;
9169472
;
10049757
;
10828963
;
12118250
;
12618959
;
14617022
;
14702039
;
15489334
;
15882967
;
17081983
;
18669648
;
19608861
;
20068231
;
20522425
;
21269460
;
21406692
;
21795390
;
ALL
;
Gene family/group
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)
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
LBR
;
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Curation status
Auto-annotated
Notes
NA
Related H-InvDB links
Gene family;
Similarity Search Tool;
TACT
;
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;
JRE-1.4.0 or later is required.
Download JRE at
Sun's web site.
Disease/pathology information
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)
Gene name
Entrez Gene ID:(3930)
Disease
Entrez Gene ID:(3930)
Substance
Entrez Gene ID:(3930)
Related H-InvDB links
DiseaseInfo Viewer
;
LEGENDA
;
Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information
Single Nucleotide Polymorphism (SNP) and indel
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
No data available
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;