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LMBR1 (limb development membrane protein 1)

Identity

Alias (NCBI)ACHP
C7orf2
DIF14
LSS
PPD2
THYP
TPT
ZRS
HGNC (Hugo) LMBR1
HGNC Alias symbACHP
FLJ11665
ZRS
HGNC Previous nameC7orf2
HGNC Previous namechromosome 7 open reading frame 2
 limb region 1 homolog (mouse)
LocusID (NCBI) 64327
Atlas_Id 66133
Location 7q36.3  [Link to chromosome band 7q36]
Location_base_pair Starts at 156677791 and ends at 156893183 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    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]  ENSG00000105983 [Sequence]  chr7:156677791-156893183 [Contig_View]  LMBR1 [Vega]
ICGC DataPortalENSG00000105983
TCGA cBioPortalLMBR1
AceView (NCBI)LMBR1
Genatlas (Paris)LMBR1
SOURCE (Princeton)LMBR1
Genetics Home Reference (NIH)LMBR1
Genomic and cartography
GoldenPath hg38 (UCSC)LMBR1  -     chr7:156677791-156893183 -  7q36.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LMBR1  -     7q36.3   [Description]    (hg19-Feb_2009)
GoldenPathLMBR1 - 7q36.3 [CytoView hg19]  LMBR1 - 7q36.3 [CytoView hg38]
ImmunoBaseENSG00000105983
Genome Data Viewer NCBILMBR1 [Mapview hg19]  
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_001363409 NM_001363410 NM_001363411 NM_001363412 NM_001363413 NM_022458
Consensus coding sequences : CCDS (NCBI)LMBR1
Gene ExpressionLMBR1 [ NCBI-GEO ]   LMBR1 [ EBI - ARRAY_EXPRESS ]   LMBR1 [ SEEK ]   LMBR1 [ MEM ]
Gene Expression Viewer (FireBrowse)LMBR1 [ Firebrowse - Broad ]
GenevisibleExpression of LMBR1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64327
GTEX Portal (Tissue expression)LMBR1
Human Protein AtlasENSG00000105983-LMBR1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ8WVP7
Domains : Interpro (EBI)LIMR    LMBR1-like_membr_prot   
Domain families : Pfam (Sanger)LMBR1 (PF04791)   
Domain families : Pfam (NCBI)pfam04791   
Conserved Domain (NCBI)LMBR1
SuperfamilyQ8WVP7
AlphaFold pdb e-kbQ8WVP7   
Human Protein Atlas [tissue]ENSG00000105983-LMBR1 [tissue]
HPRD05700
Protein Interaction databases
DIP (DOE-UCLA)Q8WVP7
IntAct (EBI)Q8WVP7
BioGRIDLMBR1
STRING (EMBL)LMBR1
ZODIACLMBR1
Ontologies - Pathways
QuickGOQ8WVP7
Ontology : AmiGOtransmembrane signaling receptor activity  protein binding  integral component of plasma membrane  signal transduction  embryonic digit morphogenesis  
Ontology : EGO-EBItransmembrane signaling receptor activity  protein binding  integral component of plasma membrane  signal transduction  embryonic digit morphogenesis  
NDEx NetworkLMBR1
Atlas of Cancer Signalling NetworkLMBR1
Wikipedia pathwaysLMBR1
Orthology - Evolution
OrthoDB64327
GeneTree (enSembl)ENSG00000105983
Phylogenetic Trees/Animal Genes : TreeFamLMBR1
Homologs : HomoloGeneLMBR1
Homology/Alignments : Family Browser (UCSC)LMBR1
Gene fusions - Rearrangements
Fusion : QuiverLMBR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLMBR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LMBR1
dbVarLMBR1
ClinVarLMBR1
MonarchLMBR1
1000_GenomesLMBR1 
Exome Variant ServerLMBR1
GNOMAD BrowserENSG00000105983
Varsome BrowserLMBR1
ACMGLMBR1 variants
VarityQ8WVP7
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]  
Somatic Mutations in Cancer : COSMIC3DLMBR1
Mutations and Diseases : HGMDLMBR1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaLMBR1
DgiDB (Drug Gene Interaction Database)LMBR1
DoCM (Curated mutations)LMBR1
CIViC (Clinical Interpretations of Variants in Cancer)LMBR1
Cancer3DLMBR1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM135750    174500    186200    188740    200500    605522   
Orphanet1255    2215    2662    2956    20983    20982    21021    21022    12327   
DisGeNETLMBR1
MedgenLMBR1
Genetic Testing Registry LMBR1
NextProtQ8WVP7 [Medical]
GENETestsLMBR1
Target ValidationLMBR1
Huge Navigator LMBR1 [HugePedia]
ClinGenLMBR1
Clinical trials, drugs, therapy
MyCancerGenomeLMBR1
Protein Interactions : CTDLMBR1
Pharm GKB GenePA25945
PharosQ8WVP7
Clinical trialLMBR1
Miscellaneous
canSAR (ICR)LMBR1
HarmonizomeLMBR1
DataMed IndexLMBR1
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXLMBR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:00:57 CEST 2021

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