Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64327
Gene name Gene Name - the full gene name approved by the HGNC.
Limb development membrane protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LMBR1
Synonyms (NCBI Gene) Gene synonyms aliases
ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, TPTPS, ZRS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ACHP, LSS, PPD2, THYP, TPTPS
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q36.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located wi
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs140806590 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Synonymous variant, non coding transcript variant, intron variant, coding sequence variant
rs587779752 G>A Pathogenic Intron variant
rs606231146 G>A,C Pathogenic Intron variant
rs606231147 C>T Pathogenic Intron variant
rs606231148 T>A Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030809 hsa-miR-21-5p Microarray 18591254
MIRT710380 hsa-miR-3662 HITS-CLIP 19536157
MIRT710379 hsa-miR-3646 HITS-CLIP 19536157
MIRT710378 hsa-miR-4698 HITS-CLIP 19536157
MIRT710377 hsa-miR-4719 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0007165 Process Signal transduction IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605522 13243 ENSG00000105983
Protein
UniProt ID Q8WVP7
Protein name Limb region 1 protein homolog (Differentiation-related gene 14 protein)
Protein function Putative membrane receptor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04791 LMBR1 19 282 LMBR1-like membrane protein Family
PF04791 LMBR1 255 450 LMBR1-like membrane protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with strongest expression in heart and pancreas. {ECO:0000269|PubMed:10329000}.
Sequence
MEGQDEVSAREQHFHSQVRESTICFLLFAILYVVSYFIITRYKRKSDEQEDEDAIVNRIS
LFLSTFTLAVSAGAVLLLPFSIISNEILLSFPQNYYIQWLNGSLIHGLWNLASLFSNLCL
FVLMPFAFFFLESEGFAGLKKGIRARILETLVMLLLLALLILGIVWVASALIDNDAASME
SLYDLWEFYLPYLYSCISLMGCLLLLLCTPVGLSRMFTVMGQLLVKPTILEDLDEQIYII
TLEEEALQRRLNGL
SSSVEYNIMELEQELENVKTLKTKLERRKKASAWERNLVYPAVMVL
LLIETSISVLLVACNILCLLVDETAMPKGTRGPGIGNASLSTFGFVGAALEIILIFYLMV
SSVVGFYSLRFFGNFTPKKDDTTMTKIIGNCVSILVLSSALPVMSRTLGITRFDLLGDFG
RFNWLGNFYIVLSYNLLFAIVTTLCLVRKF
TSAVREELFKALGLHKLHLPNTSRDSETAK
PSVNGHQKAL
Sequence length 490
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321
View all (13 more)
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Triphalangeal thumb-polysyndactyly syndrome Triphalangeal thumb-polysyndactyly syndrome ClinVar
Laurin-Sandrow syndrome laurin-Sandrow syndrome GenCC
Triphalangeal Thumb-Polysyndactyly Syndrome triphalangeal thumb-polysyndactyly syndrome GenCC
Hypoplastic Tibia And Postaxial Polydactyly Syndrome hypoplastic tibiae-postaxial polydactyly syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acheiropodia Associate 11090342
Glioblastoma Associate 18594817
Obesity Associate 28207535
Patterson Stevenson syndrome Associate 28035386, 33218365
Polydactyly Associate 31115189
Polydactyly Preaxial III Associate 28690477
Polydactyly preaxial type 1 Associate 11333865, 28690477