LRRC8C Gene
protein-coding GIFtS: 45
GCID: GC01P090098
|
|
leucine rich repeat containing 8 family, member C
| |
Aliases
for LRRC8C 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 C1 2 | | Hypothetical Protein AD1582 | | AD1581 2 3 5 | | Leucine Rich Repeat Containing 8C2 | | FAD1582 3 5 | | Leucine-Rich Repeat-Containing Protein 8C2 | | Factor For Adipocyte Differentiation 1582 3 | | |
Export aliases for LRRC8C gene to outside databasesPrevious GC identifers: GC01P089811 GC01P089871 GC01P088215 |
Summaries
for LRRC8C gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: LRC8C_HUMAN, Q8TDW0Function: May play a role in adipogenesis (By similarity)
|
Genomic Views
for LRRC8C 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 LRRC8C gene promoter:
ER-alpha Max1 Sox5 AML1a FOXD3 CUTL1 MZF-1 FOXO4 Pax-4a
Other transcription factors
Search SABiosciences Chromatin IP Primers for LRRC8C
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRRC8C |
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: 1p22.2LRRC8C 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 GC01P090098: view genomic region
(about GC identifiers)
Start:
|
90,098,631 bp from pter |
End:
|
90,398,809 bp from pter |
Size:
|
300,179 bases |
Orientation:
|
plus strand |
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Proteins
for LRRC8C 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: LRC8C_HUMAN, Q8TDW0 (See
protein sequence)Recommended Name: Leucine-rich repeat-containing protein 8C Size: 803 amino acids; 92450 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: B3KXS9 Q29RV6 Q9H075Explore the universe of human proteins at neXtProt for LRRC8C: NX_Q8TDW0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8TDW0
LRRC8C Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_115646.2
ENSEMBL proteins: ENSP00000359483 ENSP00000359482 ENSP00000436638
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005789 | endoplasmic reticulum membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- |
LRRC8C for ontologies About GeneDecksing
LRRC8C Antibody Products:
Assay Products for LRRC8C: |
Protein
Domains /
Families
for LRRC8C gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
LRRC8C for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8TDW0ProtoNet protein and cluster: Q8TDW0 UniProtKB/Swiss-Prot: LRC8C_HUMAN, Q8TDW0Similarity: Contains 17 LRR (leucine-rich) repeats |
Function
for LRRC8C 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
|
Function Summary:
UniProtKB/Swiss-Prot: LRC8C_HUMAN, Q8TDW0Function: May play a role in adipogenesis (By similarity)
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 LRRC8C (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LRRC8C
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRC8C |
|
Pathways & Interactions
for LRRC8C 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 LRRC8C
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for LRRC8C (ENSP000003594834) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for LRRC8C 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 LRRC8C
Search CenterWatch for drugs/clinical trials and news about LRRC8C / LRC8C
|
Transcripts
for LRRC8C 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 LRRC8C gene: NM_032270.4 Unigene Cluster for LRRC8C: Leucine rich repeat containing 8 family, member C Hs.412836 [show with all ESTs]Unigene Representative Sequence: NM_0322705 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000370454(uc001dnl.4) ENST00000479252 ENST00000370453 ENST00000482063
ENST00000416805
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LRRC8C (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LRRC8C
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: LRRC8C (NM_032270) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for LRRC8C | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LRRC8C |
Additional cDNA sequence: AB081509.1 AK094804.1 AK127881.1 AL136919.1 BC036122.1 BC103929.2 BC113973.1 6 DOTS entries: DT.97770424 DT.101977605 DT.100021918 DT.121373265 DT.411876 DT.92049196 24/43 AceView cDNA sequences (see all 43): AW302620 BM788356 AI701230 AA478900 BU620963 CA419859 AA722683 AL136919 AI475288 AA360898 AA479597 AA478781 AB081509 AL700350 AW316765 AA854189 BC036122 BF115507 BX119226 AI949072 BQ228027 AA477435 AI018285 NM_032270
GeneLoc Exon Structure
|
Expression
for LRRC8C 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
| LRRC8C expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTTTTAATG
About this image
See LRRC8C Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LRRC8C
SOURCE GeneReport for Unigene cluster: Hs.412836
UniProtKB/Swiss-Prot: LRC8C_HUMAN, Q8TDW0Tissue specificity: Expressed at highest levels in skeletal muscle, and at moderate levels in heart, lung andperipheral blood leukocytes
SABiosciences Custom PCR Arrays for LRRC8C
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LRRC8C
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LRRC8C | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LRRC8C | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LRRC8C | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRC8C |
Orthologs
for LRRC8C 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 LRRC8C gene from 4/12 species (see all 12) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
LRRC8C1 |
leucine rich repeat containing 8 family, member C |
80.05(n)
90.52(a) |
|
424515 XM_422353.3 XP_422353.2 |
lizard
(Anolis carolinensis) |
Reptilia |
LRRC8C6 |
-- |
90(a) |
1 ↔ 1 |
4(95733139-95741835) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.114832 |
Transcribed sequence with weak similarity to protein more |
74.91(n) |
|
CF785227.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
lrrc8c1 |
leucine rich repeat containing 8 family, member C |
72.1(n)
79.27(a) |
|
571216 XM_001919346.3 XP_001919381.1 |
ENSEMBL Gene Tree for LRRC8C (if available)
TreeFam Gene Tree for LRRC8C (if available) |
Paralogs
for LRRC8C gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for LRRC8C gene
- LRRC8E2 LRRC282 LRRC8B2 LRRC8A2 LRRC8D2 LRRC692
9 SIMAP similar genes for LRRC8C using alignment to 4 protein entries: LRC8C_HUMAN (see all proteins):LRRC8E LRRC8D LRRC8A LRRC8B DKFZp666L2010 LRRC5
LRRD1 LRRC1 RSU1
LRRC8C for paralogs About GeneDecksing
|
Genomic Variants
for LRRC8C 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 LRRC8C (90098631 - 90348631 bp, first 250kb of LRRC8C)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for LRRC8C
3 CNVs: 97435 84362 64218
1 Indel: 69068 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LRRC8C |
|
Disorders
/ Diseases
for LRRC8C 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
|
 LRRC8C for disorders About MalaCards
LRRC8C for disorders About GeneDecksing
OMIM gene information: 612889
OMIM disorders: --
Human Genome Epidemiology (HuGE) Navigator: LRRC8C (1 document)
Export disorders for LRRC8C gene to outside databases
|
Publications
for LRRC8C 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 LRRC8C gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with LRRC8C) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (2001)
- 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)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
- Fad24, a mammalian homolog of Noc3p, is a positive regulator in adipocyte differentiation. (PubMed id 15564382)2 Tominaga K.... Imagawa M. (2004)
- LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins. (PubMed id 15094057)1 Kubota K....Hara J. (2004)
|
External Searches for LRRC8C gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing LRRC8C gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing LRRC8C gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing LRRC8C 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
|
| Name | Description |
| PharmGKB entry for LRRC8C | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for LRRC8C gene:
Search GeneIP for patents involving LRRC8C
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for LRRC8C 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
|
 | |
 | |
 |
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| |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRC8C |
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