Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81562
Gene name Gene Name - the full gene name approved by the HGNC.
Lectin, mannose binding 2 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LMAN2L
Synonyms (NCBI Gene) Gene synonyms aliases
MRD69, MRT52, VIPL
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609552 19263 ENSG00000114988
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal recessive 52 rs869320632 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder, Bipolar I disorder N/A N/A GWAS
Intellectual Developmental Disorder intellectual developmental disorder, autosomal dominant 69 N/A N/A GenCC
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability N/A N/A GenCC
Associations from Text Mining Disease 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