Gene Gene information from NCBI Gene database.
Entrez ID 81562
Gene name Lectin, mannose binding 2 like
Gene symbol LMAN2L
Synonyms (NCBI Gene)
MRD69MRT52VIPL
Chromosome 2
Chromosome location 2q11.2
Summary This gene encodes a protein belonging to the L-type lectin group of type 1 membrane proteins, which function in the mammalian early secretory pathway. These proteins contain luminal carbohydrate recognition domains, which display homology to leguminous le
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs869320632 C>T Pathogenic Coding sequence variant, missense variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
290
miRTarBase ID miRNA Experiments Reference
MIRT023127 hsa-miR-124-3p Microarray 18668037
MIRT030223 hsa-miR-26b-5p Microarray 19088304
MIRT032054 hsa-miR-16-5p Proteomics 18668040
MIRT719508 hsa-miR-34b-3p HITS-CLIP 19536157
MIRT719507 hsa-miR-124-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005537 Function D-mannose binding IBA
GO:0005537 Function D-mannose binding TAS 12609988
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609552 19263 ENSG00000114988
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H0V9
Protein name VIP36-like protein (Lectin mannose-binding 2-like) (LMAN2-like protein)
Protein function May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03388 Lectin_leg-like 49 276 Legume-like lectin family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in numerous tissues. Highest expression in skeletal muscle and kidney, intermediate levels in heart, liver and placenta, low levels in brain, thymus, spleen, small intestine and lung. {ECO:0000269|PubMed:12878160}.
Sequence
Sequence length 348
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
Cargo concentration in the ER
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual developmental disorder, autosomal dominant 69 Pathogenic rs2077803067 RCV004584231
Intellectual disability, autosomal recessive 52 Likely pathogenic; Pathogenic rs773649192, rs869320632 RCV002291516
RCV000210447
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hyperphosphatasia with intellectual disability syndrome 4 Uncertain significance rs747360404 RCV005861329
LMAN2L-related disorder Likely benign; Uncertain significance rs372022200, rs199689213, rs747652435, rs2469423528, rs531289024 RCV003977164
RCV003941774
RCV003961662
RCV003943848
RCV003961857
Neurodevelopmental disorder Uncertain significance rs758530620 RCV002277649
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 23712748
Bipolar Disorder Associate 23712748
Cardiomyopathy Restrictive Associate 31020005
Emphysema Inhibit 30214182
Epilepsy Associate 31020005
Hypotension Associate 23712748
Intellectual Disability Associate 31020005
Pulmonary Disease Chronic Obstructive Associate 30214182