Gene Gene information from NCBI Gene database.
Entrez ID 64327
Gene name Limb development membrane protein 1
Gene symbol LMBR1
Synonyms (NCBI Gene)
ACHPC7orf2DIF14LSSPPD2THYPTPTTPTPSZRS
Chromosome 7
Chromosome location 7q36.3
Summary 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.
12
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.
794
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
GO:0007165 Process Signal transduction IBA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605522 13243 ENSG00000105983
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acheiropodia Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ACHEIROPODY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
1-5 finger syndactyly Syndactyly of fingers HPO_DG
★☆☆☆☆
Found in Text Mining only
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
★☆☆☆☆
Found in Text Mining only
Absence of tibia with polydactyly Absence Of Tibia With Polydactyly CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Acheiropodia Acheiropodia BEFREE 11090342, 26749485
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acheiropodia Acheiropodia ORPHANET_DG 11090342
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acheiropodia Acheiropodia GENOMICS_ENGLAND_DG 11090342
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acheiropodia Acheiropodia CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 22385606
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 22385606
★☆☆☆☆
Found in Text Mining only
Age-related cortical cataract Cortical cataract BEFREE 30116630
★☆☆☆☆
Found in Text Mining only