Gene Gene information from NCBI Gene database.
Entrez ID 55716
Gene name Limb development membrane protein 1 like
Gene symbol LMBR1L
Synonyms (NCBI Gene)
LIMR
Chromosome 12
Chromosome location 12q13.12
miRNA miRNA information provided by mirtarbase database.
334
miRTarBase ID miRNA Experiments Reference
MIRT049211 hsa-miR-92a-3p CLASH 23622248
MIRT047506 hsa-miR-10a-5p CLASH 23622248
MIRT687676 hsa-miR-6760-5p HITS-CLIP 23313552
MIRT687675 hsa-miR-6728-3p HITS-CLIP 23313552
MIRT248141 hsa-miR-93-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IBA
GO:0004888 Function Transmembrane signaling receptor activity IDA 11287427
GO:0005515 Function Protein binding IPI 11287427, 16423471, 17991420, 31073040
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 31073040
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610007 18268 ENSG00000139636
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UX01
Protein name Protein LMBR1L (Limb region 1 protein homolog-like) (Lipocalin-1-interacting membrane receptor) (LIMR)
Protein function Plays an essential role in lymphocyte development by negatively regulating the canonical Wnt signaling pathway (By similarity). In association with UBAC2 and E3 ubiquitin-protein ligase AMFR, promotes the ubiquitin-mediated degradation of CTNNB1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04791 LMBR1 21 258 LMBR1-like membrane protein Family
PF04791 LMBR1 266 455 LMBR1-like membrane protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in testis, pituitary gland, adrenal gland, trachea, placenta, thymus, cerebellum, stomach, mammary gland, spinal cord. A weaker expression is detected in colon, pancreas, and prostate. {ECO:0000269|PubMed:11287427}.
Sequence
Sequence length 489
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
DSD incomplete virilization Likely pathogenic rs202075719, rs758828358 RCV001849542
RCV001849543
★★★★☆
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
INSOMNIA 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
Obesity Obesity Pubtator 33420178 Associate
★☆☆☆☆
Found in Text Mining only