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LMBR1 (limb development membrane protein 1)

Identity

Alias_namesC7orf2
chromosome 7 open reading frame 2
limb region 1 homolog (mouse)
Alias_symbol (synonym)ACHP
FLJ11665
ZRS
Other aliasDIF14
LSS
PPD2
THYP
TPT
HGNC (Hugo) LMBR1
LocusID (NCBI) 64327
Atlas_Id 66133
Location 7q36.3  [Link to chromosome band 7q36]
Location_base_pair Starts at 156680876 and ends at 156893208 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCYRN1 (Xq13.1) / LMBR1 (7q36.3)GALNT11 (7q36.1) / LMBR1 (7q36.3)LMBR1 (7q36.3) / EPHA1 (7q34)
LMBR1 (7q36.3) / PTPRN2 (7q36.3)LMBR1 (7q36.3) / TPRG1 (3q28)LMBR1 PTPRN2
LMBR1 EPHA1LMBR1 TPRG1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LMBR1   13243
Cards
Entrez_Gene (NCBI)LMBR1  64327  limb development membrane protein 1
AliasesACHP; C7orf2; DIF14; LSS; 
PPD2; THYP; TPT; ZRS
GeneCards (Weizmann)LMBR1
Ensembl hg19 (Hinxton)ENSG00000105983 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105983 [Gene_View]  chr7:156680876-156893208 [Contig_View]  LMBR1 [Vega]
ICGC DataPortalENSG00000105983
TCGA cBioPortalLMBR1
AceView (NCBI)LMBR1
Genatlas (Paris)LMBR1
WikiGenes64327
SOURCE (Princeton)LMBR1
Genetics Home Reference (NIH)LMBR1
Genomic and cartography
GoldenPath hg38 (UCSC)LMBR1  -     chr7:156680876-156893208 -  7q36.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LMBR1  -     7q36.3   [Description]    (hg19-Feb_2009)
EnsemblLMBR1 - 7q36.3 [CytoView hg19]  LMBR1 - 7q36.3 [CytoView hg38]
Mapping of homologs : NCBILMBR1 [Mapview hg19]  LMBR1 [Mapview hg38]
OMIM135750   174500   186200   188740   200500   605522   
Gene and transcription
Genbank (Entrez)AF063592 AF348513 AF402318 AK021727 AK026940
RefSeq transcript (Entrez)NM_001350953 NM_001350954 NM_001350955 NM_001350956 NM_001350957 NM_001350958 NM_022458
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LMBR1
Cluster EST : UnigeneHs.209989 [ NCBI ]
CGAP (NCI)Hs.209989
Alternative Splicing GalleryENSG00000105983
Gene ExpressionLMBR1 [ NCBI-GEO ]   LMBR1 [ EBI - ARRAY_EXPRESS ]   LMBR1 [ SEEK ]   LMBR1 [ MEM ]
Gene Expression Viewer (FireBrowse)LMBR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64327
GTEX Portal (Tissue expression)LMBR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WVP7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WVP7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WVP7
Splice isoforms : SwissVarQ8WVP7
PhosPhoSitePlusQ8WVP7
Domains : Interpro (EBI)LIMR    LMBR1-like_membr_prot   
Domain families : Pfam (Sanger)LMBR1 (PF04791)   
Domain families : Pfam (NCBI)pfam04791   
Conserved Domain (NCBI)LMBR1
DMDM Disease mutations64327
Blocks (Seattle)LMBR1
SuperfamilyQ8WVP7
Human Protein AtlasENSG00000105983
Peptide AtlasQ8WVP7
HPRD05700
IPIIPI00385238   IPI00386956   IPI00413720   IPI00168561   IPI01012663   IPI00796212   IPI00925606   IPI00926640   IPI00926195   IPI00927471   IPI00927727   IPI00926425   
Protein Interaction databases
DIP (DOE-UCLA)Q8WVP7
IntAct (EBI)Q8WVP7
FunCoupENSG00000105983
BioGRIDLMBR1
STRING (EMBL)LMBR1
ZODIACLMBR1
Ontologies - Pathways
QuickGOQ8WVP7
Ontology : AmiGOintegral component of membrane  embryonic digit morphogenesis  
Ontology : EGO-EBIintegral component of membrane  embryonic digit morphogenesis  
NDEx NetworkLMBR1
Atlas of Cancer Signalling NetworkLMBR1
Wikipedia pathwaysLMBR1
Orthology - Evolution
OrthoDB64327
GeneTree (enSembl)ENSG00000105983
Phylogenetic Trees/Animal Genes : TreeFamLMBR1
HOVERGENQ8WVP7
HOGENOMQ8WVP7
Homologs : HomoloGeneLMBR1
Homology/Alignments : Family Browser (UCSC)LMBR1
Gene fusions - Rearrangements
Fusion: TCGALMBR1 PTPRN2
Fusion: TCGALMBR1 EPHA1
Fusion: TCGALMBR1 TPRG1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLMBR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LMBR1
dbVarLMBR1
ClinVarLMBR1
1000_GenomesLMBR1 
Exome Variant ServerLMBR1
ExAC (Exome Aggregation Consortium)LMBR1 (select the gene name)
Genetic variants : HAPMAP64327
Genomic Variants (DGV)LMBR1 [DGVbeta]
DECIPHERLMBR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLMBR1 
Mutations
ICGC Data PortalLMBR1 
TCGA Data PortalLMBR1 
Broad Tumor PortalLMBR1
OASIS PortalLMBR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLMBR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLMBR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch LMBR1
DgiDB (Drug Gene Interaction Database)LMBR1
DoCM (Curated mutations)LMBR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LMBR1 (select a term)
intoGenLMBR1
Cancer3DLMBR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM135750    174500    186200    188740    200500    605522   
Orphanet1255    2215    2662    2956    20983    20982    21021    21022    12327   
MedgenLMBR1
Genetic Testing Registry LMBR1
NextProtQ8WVP7 [Medical]
TSGene64327
GENETestsLMBR1
Target ValidationLMBR1
Huge Navigator LMBR1 [HugePedia]
snp3D : Map Gene to Disease64327
BioCentury BCIQLMBR1
ClinGenLMBR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64327
Chemical/Pharm GKB GenePA25945
Clinical trialLMBR1
Miscellaneous
canSAR (ICR)LMBR1 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLMBR1
EVEXLMBR1
GoPubMedLMBR1
iHOPLMBR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:16:44 CEST 2017

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