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Aliases for LMAN2L Gene

Aliases for LMAN2L Gene

  • Lectin, Mannose Binding 2 Like 2 3 5
  • LMAN2-Like Protein 3 4
  • VIPL 3 4
  • Lectin, Mannose-Binding 2-Like 2
  • Lectin Mannose-Binding 2-Like 4
  • VIP36-Like Protein 3
  • MRT52 3

External Ids for LMAN2L Gene

Previous GeneCards Identifiers for LMAN2L Gene

  • GC02M096839
  • GC02M096856
  • GC02M097371
  • GC02M091332

Summaries for LMAN2L Gene

Entrez Gene Summary for LMAN2L 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 lectins. Unlike other proteins of the group, which cycle in the early secretory pathway and are predominantly associated with post endoplasmic reticulum membranes, the protein encoded by this gene is a non-cycling resident protein of the ER, where it functions as a cargo receptor for glycoproteins. It is proposed to regulate exchange of folded proteins for transport to the Golgi and exchange of misfolded glycoproteins for transport to the ubiquitin-proteasome pathway. [provided by RefSeq, Apr 2016]

GeneCards Summary for LMAN2L Gene

LMAN2L (Lectin, Mannose Binding 2 Like) is a Protein Coding gene. Diseases associated with LMAN2L include Mental Retardation, Autosomal Recessive 52 and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include mannose binding. An important paralog of this gene is LMAN2.

UniProtKB/Swiss-Prot for LMAN2L Gene

  • 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.

Gene Wiki entry for LMAN2L Gene

Additional gene information for LMAN2L Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMAN2L Gene

Genomics for LMAN2L Gene

GeneHancer (GH) Regulatory Elements for LMAN2L Gene

Promoters and enhancers for LMAN2L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I096737 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 564.7 +0.7 675 2.9 HDGF PKNOX1 ATF1 FOXA2 ARID4B NEUROD1 SIN3A ZBTB7B ZNF48 YY1 LMAN2L SNRNP200 KANSL3 STARD7-AS1 GC02M096702
GH02I097712 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.7 -976.1 -976143 7.6 PKNOX1 ATF1 TCF12 ZNF766 CAVIN1 ZNF592 KAT8 MEF2D MIER3 SMARCA4 ZAP70 ANKRD36B LMAN2L UNC50 ACTR1B ANKRD36 CNNM3 SEMA4C TMEM131 FAHD2B
GH02I096800 Enhancer 1.3 Ensembl ENCODE dbSUPER 26.1 -61.0 -60960 1.4 HDGF ELF3 ZSCAN4 ARID4B SIN3A YBX1 ZNF2 ZNF48 ZSCAN9 RAD21 SNRNP200 LMAN2L KANSL3 SEMA4C ANKRD36 CNNM4 CNNM3 ANKRD36B STARD7-AS1 MIR3127
GH02I096206 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.2 +531.3 531344 3.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B STARD7-AS1 STARD7 KANSL3 SNRNP200 ANKRD36 LMAN2L CNNM3 SEMA4C GPAT2 CIAO1
GH02I096759 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.4 -21.9 -21887 5.6 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 YY1 ZNF143 ZNF263 CNNM4 LMAN2L MIR3127
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LMAN2L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LMAN2L gene promoter:

Genomic Locations for LMAN2L Gene

Genomic Locations for LMAN2L Gene
chr2:96,705,929-96,740,082
(GRCh38/hg38)
Size:
34,154 bases
Orientation:
Minus strand
chr2:97,371,666-97,405,813
(GRCh37/hg19)

Genomic View for LMAN2L Gene

Genes around LMAN2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMAN2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMAN2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMAN2L Gene

Proteins for LMAN2L Gene

  • Protein details for LMAN2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0V9-LMA2L_HUMAN
    Recommended name:
    VIP36-like protein
    Protein Accession:
    Q9H0V9
    Secondary Accessions:
    • B4DSH3
    • D3DXH6
    • Q53GV3
    • Q53S67
    • Q63HN6
    • Q8NBQ6
    • Q9BQ14

    Protein attributes for LMAN2L Gene

    Size:
    348 amino acids
    Molecular mass:
    39711 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LMAN2L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LMAN2L Gene

Post-translational modifications for LMAN2L Gene

  • Glycosylation at isoforms=2, 3181
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LMAN2L Gene

Domains & Families for LMAN2L Gene

Gene Families for LMAN2L Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for LMAN2L Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LMAN2L: view

No data available for UniProtKB/Swiss-Prot for LMAN2L Gene

Function for LMAN2L Gene

Molecular function for LMAN2L Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for LMAN2L Gene

Gene Ontology (GO) - Molecular Function for LMAN2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005537 mannose binding TAS 12609988
GO:0030246 carbohydrate binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with LMAN2L: view

Phenotypes for LMAN2L Gene

genes like me logo Genes that share phenotypes with LMAN2L: view

Human Phenotype Ontology for LMAN2L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for LMAN2L Gene

Localization for LMAN2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMAN2L Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Note=Predominantly found in the endoplasmic reticulum. Partly found in the Golgi.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMAN2L gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for LMAN2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA,IEA 12609988
GO:0005794 Golgi apparatus IDA,IEA 12878160
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LMAN2L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LMAN2L Gene

Pathways & Interactions for LMAN2L Gene

genes like me logo Genes that share pathways with LMAN2L: view

Gene Ontology (GO) - Biological Process for LMAN2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding NAS 12609988
GO:0006888 ER to Golgi vesicle-mediated transport TAS 12878160
GO:0015031 protein transport IMP 12878160
genes like me logo Genes that share ontologies with LMAN2L: view

No data available for SIGNOR curated interactions for LMAN2L Gene

Drugs & Compounds for LMAN2L Gene

No Compound Related Data Available

Transcripts for LMAN2L Gene

Unigene Clusters for LMAN2L Gene

Lectin, mannose-binding 2-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for LMAN2L Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10
SP1: - - -
SP2: - - - - - - -
SP3: - -
SP4: -
SP5: - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: -

Relevant External Links for LMAN2L Gene

GeneLoc Exon Structure for
LMAN2L
ECgene alternative splicing isoforms for
LMAN2L

Expression for LMAN2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LMAN2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LMAN2L Gene

This gene is overexpressed in Nasal epithelium (53.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LMAN2L Gene



Protein tissue co-expression partners for LMAN2L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LMAN2L Gene:

LMAN2L

SOURCE GeneReport for Unigene cluster for LMAN2L Gene:

Hs.655743

mRNA Expression by UniProt/SwissProt for LMAN2L Gene:

Q9H0V9-LMA2L_HUMAN
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.

Evidence on tissue expression from TISSUES for LMAN2L Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with LMAN2L: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for LMAN2L Gene

Orthologs for LMAN2L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LMAN2L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LMAN2L 33 34
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia LMAN2L 33 34
  • 93.01 (n)
cow
(Bos Taurus)
Mammalia LMAN2L 33 34
  • 91.38 (n)
mouse
(Mus musculus)
Mammalia Lman2l 33 16 34
  • 89.05 (n)
oppossum
(Monodelphis domestica)
Mammalia LMAN2L 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LMAN2L 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves LMAN2L 34
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LMAN2L 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lman2l 33
  • 70.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32943 33
zebrafish
(Danio rerio)
Actinopterygii lman2la 33
  • 66.56 (n)
lman2lb 34
  • 56 (a)
OneToMany
LMAN2L (1 of 2) 34
  • 48 (a)
OneToMany
Dr.24968 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004407 33
  • 57.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5510 33 34
  • 55.82 (n)
worm
(Caenorhabditis elegans)
Secernentea ile-2 33 34
  • 51.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8400 34
  • 49 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06242 33
  • 48.57 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC126.08c 33
  • 43.46 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.275 33
Species where no ortholog for LMAN2L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LMAN2L Gene

ENSEMBL:
Gene Tree for LMAN2L (if available)
TreeFam:
Gene Tree for LMAN2L (if available)

Paralogs for LMAN2L Gene

Paralogs for LMAN2L Gene

(2) SIMAP similar genes for LMAN2L Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with LMAN2L: view

Variants for LMAN2L Gene

Sequence variations from dbSNP and Humsavar for LMAN2L Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs869320632 pathogenic, Mental retardation, autosomal recessive 52, Mental retardation, autosomal recessive 52 (MRT52) [MIM:616887] 96,739,883(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000084782 -- 96,741,309(-) T/C upstream_transcript_variant
rs1000201061 -- 96,721,290(-) T/C intron_variant
rs1000299277 -- 96,736,715(-) T/C intron_variant
rs1000331204 -- 96,730,078(-) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LMAN2L Gene

Variant ID Type Subtype PubMed ID
dgv607e201 CNV deletion 23290073
esv2720413 CNV deletion 23290073
esv3425717 CNV duplication 20981092
esv3591690 CNV gain 21293372
esv5003 OTHER complex 18987735
nsv1135873 CNV deletion 24896259
nsv469775 CNV loss 16826518
nsv526313 CNV loss 19592680
nsv834306 CNV loss 17160897
nsv834307 CNV loss 17160897

Variation tolerance for LMAN2L Gene

Residual Variation Intolerance Score: 7.83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LMAN2L Gene

Human Gene Mutation Database (HGMD)
LMAN2L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LMAN2L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMAN2L Gene

Disorders for LMAN2L Gene

MalaCards: The human disease database

(3) MalaCards diseases for LMAN2L Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 52
  • mrt52
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
detrusor sphincter dyssynergia
  • detrusor and sphincter dyssynergia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LMA2L_HUMAN
  • Mental retardation, autosomal recessive 52 (MRT52) [MIM:616887]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT52 clinical features include global developmental delay, severe intellectual disability with poor speech, and mild seizures in early childhood. {ECO:0000269 PubMed:26566883}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LMAN2L

genes like me logo Genes that share disorders with LMAN2L: view

No data available for Genatlas for LMAN2L Gene

Publications for LMAN2L Gene

  1. Profile-based data base scanning for animal L-type lectins and characterization of VIPL, a novel VIP36-like endoplasmic reticulum protein. (PMID: 12609988) Nufer O … Hauri HP (The Journal of biological chemistry 2003) 2 3 4 22 58
  2. VIPL, a VIP36-like membrane protein with a putative function in the export of glycoproteins from the endoplasmic reticulum. (PMID: 12878160) Neve EP … Pettersson RF (Experimental cell research 2003) 3 4 22 58
  3. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. (PMID: 26566883) Rafiullah R … Berkel S (Journal of medical genetics 2016) 3 4 58
  4. Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. (PMID: 22182935) Chen DT … Strauss J (Molecular psychiatry 2013) 3 44 58
  5. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PMID: 21926972) Psychiatric GWAS Consortium Bipolar Disorder Working Group (Nature genetics 2011) 3 44 58

Products for LMAN2L Gene

Sources for LMAN2L Gene

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