LRRC8D Gene
protein-coding GIFtS: 48
GCID: GC01P090286
|
|
leucine rich repeat containing 8 family, member D(Previous name: leucine rich repeat containing 5 )
(Previous symbol: LRRC5)
| |
Aliases
for LRRC8D gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Leucine Rich Repeat Containing 8 Family, Member D1 2 | | FLJ104701 | | LRRC51 2 3 5 | | Leucine-Rich Repeat-Containing 52 | | Leucine Rich Repeat Containing 51 2 | | Leucine-Rich Repeat-Containing Protein 8D2 | | Leucine-Rich Repeat-Containing Protein 52 3 | | |
Export aliases for LRRC8D gene to outside databasesPrevious GC identifers: GC01P089999 GC01P090060 GC01P088403 |
Summaries
for LRRC8D gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Gene Wiki entry for LRRC8D
|
Genomic Views
for LRRC8D gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_032977.9
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the LRRC8D gene promoter:
TBP NF-1 AML1a Evi-1 Hlf
Other transcription factors
Search SABiosciences Chromatin IP Primers for LRRC8D
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRRC8D |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p22.2 Ensembl cytogenetic band: 1p22.2 HGNC cytogenetic band: 1p22.2LRRC8D Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P090286: view genomic region
(about GC identifiers)
Start:
|
90,286,573 bp from pter |
End:
|
90,402,170 bp from pter |
Size:
|
115,598 bases |
Orientation:
|
plus strand |
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Proteins
for LRRC8D gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: LRC8D_HUMAN, Q7L1W4 (See
protein sequence)Recommended Name: Leucine-rich repeat-containing protein 8D Size: 858 amino acids; 98201 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAQ89233.1; Type=Erroneous initiation; Sequence=BAA91631.1; Type=Erroneous initiation;
Secondary accessions: D3DT29 Q6UWB2 Q9NVW3Explore the universe of human proteins at neXtProt for LRRC8D: NX_Q7L1W4
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q7L1W4
LRRC8D Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001127951.1 NP_060573.2
ENSEMBL proteins: ENSP00000435609 ENSP00000338887 ENSP00000378093 ENSP00000435504 ENSP00000415117 ENSP00000433422 ENSP00000405784
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
LRRC8D for ontologies About GeneDecksing
LRRC8D Antibody Products:
Assay Products for LRRC8D: |
Protein
Domains /
Families
for LRRC8D gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
LRRC8D for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q7L1W4ProtoNet protein and cluster: Q7L1W4 UniProtKB/Swiss-Prot: LRC8D_HUMAN, Q7L1W4Similarity: Contains 13 LRR (leucine-rich) repeats |
Function
for LRRC8D gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LRRC8D (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LRRC8D (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): LRRC8D (NM_018103) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for LRRC8D | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LRRC8D |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRC8D |
1 GenomeRNAi human phenotype for LRRC8D:
|
Pathways & Interactions
for LRRC8D gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for LRRC8D
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for LRRC8D (Q7L1W43 ENSP000003388874) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for LRRC8D gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for LRRC8D
Search CenterWatch for drugs/clinical trials and news about LRRC8D / LRC8D
|
Transcripts
for LRRC8D gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for LRRC8D gene (2 alternative transcripts): NM_001134479.1 NM_018103.4 Unigene Cluster for LRRC8D: Leucine rich repeat containing 8 family, member D Hs.482087 [show with all ESTs]Unigene Representative Sequence: NM_0011344797 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000525774 ENST00000337338(uc001dnm.3 uc001dnn.3) ENST00000394593
ENST00000532201 ENST00000414841 ENST00000527156 ENST00000441269
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LRRC8D (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LRRC8D (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): LRRC8D (NM_018103) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for LRRC8D | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LRRC8D |
Additional cDNA sequence: AK001332.1 AK092238.1 AK222787.1 AL831880.1 AL832952.1 AY007147.1 AY358874.1 BC009486.1 BC024159.2 8 DOTS entries: DT.100775244 DT.412880 DT.95099224 DT.100026414 DT.121373251 DT.95257931 DT.95161836 DT.100683653 24/126 AceView cDNA sequences (see all 126): AI114823 AY358874 BQ723583 NM_018103 AL831880 BC024159 AL832952 CR624835 N50769 AW612007 BI439844 CD515492 AI082416 AW275250 BX093623 BQ774133 BI324880 BG034111 AW024375 AX747423 BP345087 AY007147 AA151029 AK092238
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for LRRC8D (see all 7) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | · | 9e |
|---|
|
| SP1: | | | - | | - | | - | | - | | - | | - | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | | | - | | - | | | | | | | | | | | | |
| SP3: | | | - | | - | | - | | - | | - | | - | | | | - | | - | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | - | | - | | - | | - | | | | - | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for LRRC8D
|
Expression
for LRRC8D gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| LRRC8D expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCAAAAACTT
About this image
See LRRC8D Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LRRC8D
SOURCE GeneReport for Unigene cluster: Hs.482087
SABiosciences Custom PCR Arrays for LRRC8D
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LRRC8D
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LRRC8D | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LRRC8D | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LRRC8D | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRC8D |
Orthologs
for LRRC8D gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for LRRC8D gene from 3/9 species (see all 9) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
LRRC8D1 |
leucine rich repeat containing 8 family, member D |
81.4(n)
89.45(a) |
|
424513 XM_422352.3 XP_422352.1 |
lizard
(Anolis carolinensis) |
Reptilia |
LRRC8D6 |
-- |
90(a) |
1 ↔ 1 |
4(95565825-95568407) |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.197202 |
Transcribed sequence with weak similarity to protein more |
77.63(n) |
|
AL922652.1 |
ENSEMBL Gene Tree for LRRC8D (if available)
TreeFam Gene Tree for LRRC8D (if available) |
Paralogs
for LRRC8D gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for LRRC8D gene
- LRRC8E2 LRRC282 LRRC8B2 LRRC8A2 LRRC8C2 LRRC692
7 SIMAP similar genes for LRRC8D using alignment to 7 protein entries: LRC8D_HUMAN (see all proteins):DKFZp666L2010 LRRC5 LRRC8C LRRC8A LRRC8E LRRC8B
LRIG3
LRRC8D for paralogs About GeneDecksing
|
Genomic Variants
for LRRC8D gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for LRRC8D (90286573 - 90402170 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for LRRC8D: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LRRC8D |
|
Disorders
/ Diseases
for LRRC8D gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
 LRRC8D for disorders About MalaCards
LRRC8D for disorders About GeneDecksing
OMIM gene information: 612890
OMIM disorders: --
Human Genome Epidemiology (HuGE) Navigator: LRRC8D (1 document)
Export disorders for LRRC8D gene to outside databases
|
Publications
for LRRC8D gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for LRRC8D gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with LRRC8D) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
- The BTB and CNC homology 1 (BACH1) target genes are i nvolved in the oxidative stress response and in control of the cell cycle. (PubMed id 21555518)1 Warnatz H.J....Yaspo M.L. (2011)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- A protein interaction framework for human mRNA degradation. (PubMed id 15231747)1 Lehner B. and Sanderson C.M. (2004)
|
External Searches for LRRC8D gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing LRRC8D gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing LRRC8D gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing LRRC8D gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for LRRC8D gene:
Search GeneIP for patents involving LRRC8D
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for LRRC8D gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | Browse OriGene shRNA RFPs | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LRRC8D | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LRRC8D | | | OriGene Protein Over-expression Lysate for LRRC8D | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for LRRC8D | | OriGene 3'-UTR Clone for LRRC8D | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LRRC8D | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LRRC8D | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for LRRC8D | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for LRRC8D | | OriGene Custom Protein Services for LRRC8D | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat LRRC8D | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LRRC8D | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRRC8D | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LRRC8D | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LRRC8D | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LRRC8D |
| |
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| |  |  |  |  | | | | |
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 | | | LRRC8D Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRC8D |
|  |  |  | | | | Search ThermoFisher Antibodies for LRRC8D |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LRRC8D |
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