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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
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
Intellectual developmental disorder, autosomal dominant 69 Pathogenic rs2077803067 RCV004584231
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal recessive 52 Likely pathogenic; Pathogenic rs773649192, rs869320632 RCV002291516
RCV000210447
★★★★☆
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
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
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
Absence of septum pellucidum Absence Of Septum Pellucidum HPO_DG
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 23712748 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 23712748
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability Non-Syndromic Intellectual Disability Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder GWASCAT_DG 22182935, 28072414
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder GWASDB_DG 22182935
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar disorder Pubtator 23712748 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder BEFREE 24914473
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 24914473
★★☆☆☆
Found in Text Mining + Unknown/Other Associations