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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 p... See more...
Aliases for LMAN2L Gene
Aliases for LMAN2L Gene
External Ids for LMAN2L Gene
- HGNC: 19263
- Entrez Gene: 81562
- Ensembl: ENSG00000114988
- OMIM: 609552
- UniProtKB: Q9H0V9
Previous GeneCards Identifiers for LMAN2L Gene
- GC02M096839
- GC02M096856
- GC02M096793
- GC02M097371
- GC02M091332
Summaries 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 Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include mannose binding. An important paralog of this gene is LMAN2.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for LMAN2L Gene
- HGNC(19263)
- Entrez Gene(81562)
- Ensembl(ENSG00000114988)
- OMIM(609552)
- UniProtKB(Q9H0V9)
- Open Targets Platform(ENSG00000114988)
- Monarch Initiative
- Search for LMAN2L at DataMed
- Search for LMAN2L at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LMAN2L Gene
Genomics for LMAN2L Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for LMAN2L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around LMAN2L on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LMAN2L
- Top Transcription factor binding sites by QIAGEN in the LMAN2L gene promoter:
-
- AML1a
- AREB6
- E47
- HNF-3beta
- Lmo2
- MyoD
- POU2F1a
- RP58
- Tal-1beta
- ZIC2
Genomic Locations for LMAN2L Gene
Genomic Locations for LMAN2L Gene
- chr2:96,705,929-96,740,092
- (GRCh38/hg38)
- Size:
- 34,164 bases
- Orientation:
- Minus strand
- chr2:97,371,666-97,405,813
- (GRCh37/hg19)
- Size:
- 34,148 bases
- Orientation:
- Minus strand
Genomic View for LMAN2L Gene
Genes around LMAN2L on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q11.2 by HGNC
- 2q11.2 by Entrez Gene
- 2q11.2 by Ensembl
LMAN2L Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for LMAN2L Gene
Post-translational modifications for LMAN2L Gene
Other Protein References for LMAN2L Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for LMAN2L
- Invitrogen Antibodies for LMAN2L (AFLGC-LMAN2L)
-
Santa Cruz Biotechnology (SCBT) Antibodies for LMAN2L
Protein Products
- G Biosciences Human LMAN2L/VIP36-like protein, Lyophilized
-
OriGene Purified Proteins for LMAN2L
- Search Origene for MassSpec and Protein Over-expression Lysates for LMAN2L
- Origene Custom Protein Services for LMAN2L
- Sino Biological Cell Lysates for LMAN2L
- Sino Biological Recombinant Proteins for LMAN2L
-
Signalway Proteins for LMAN2L
-
ProSci Proteins for LMAN2L
-
Abcam proteins for LMAN2L
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
- InterPro:
- Blocks:
-
- Legume-like lectin
- ProtoNet:
Suggested Antigen Peptide Sequences for LMAN2L Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ54937, highly similar to VIP36-like protein (B4DSH3_HUMAN)
- cDNA, FLJ79230, highly similar to VIP36-like protein (B4DVH1_HUMAN)
- Lectin mannose-binding 2-like (LMA2L_HUMAN)
No data available for Graphical View of Domain Structure and 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005537 | mannose binding | IBA,TAS | 12609988 |
| GO:0030246 | carbohydrate binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for LMAN2L Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LMAN2L - Select products 50% OFF >
- * LMAN2L CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LMAN2L
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LMAN2L
-
Santa Cruz Biotechnology (SCBT) CRISPR for LMAN2L
miRNA for LMAN2L Gene
- miRTarBase miRNAs that target LMAN2L
-
- hsa-miR-124-3p (MIRT023127)
- hsa-miR-26b-5p (MIRT030223)
- hsa-miR-16-5p (MIRT032054)
- hsa-miR-124-5p (MIRT719507)
- hsa-miR-34b-3p (MIRT719508)
- hsa-miR-1200 (MIRT761228)
- hsa-miR-1976 (MIRT763574)
- hsa-miR-23a-5p (MIRT764019)
- hsa-miR-23b-5p (MIRT764037)
- hsa-miR-3653-5p (MIRT766370)
- hsa-miR-4279 (MIRT768320)
- hsa-miR-4324 (MIRT768618)
- hsa-miR-4722-3p (MIRT771486)
- hsa-miR-498 (MIRT772844)
- hsa-miR-544b (MIRT774004)
- hsa-miR-660-3p (MIRT777391)
- hsa-miR-6727-3p (MIRT777888)
- hsa-miR-6742-3p (MIRT778143)
- hsa-miR-6747-3p (MIRT778277)
- hsa-miR-6791-3p (MIRT779290)
- hsa-miR-6829-3p (MIRT779978)
- hsa-miR-6869-5p (MIRT780681)
- hsa-miR-129-5p (MIRT783521)
- hsa-miR-1304-3p (MIRT783679)
- hsa-miR-6818-3p (MIRT788923)
- hsa-miR-8055 (MIRT789691)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LMAN2L
- Browse OriGene Inhibitory RNA Products For LMAN2L
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMAN2L
Clone Products
- Applied Biological Materials (abm): Clones for LMAN2L - Select products 50% OFF >
- * LMAN2L as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG201903
- MG205234
- MR201903
- MR201903L3
- MR201903L4
- MR205234
- MR205234L3
- MR205234L4
- RC209496
- RC209496L3
- RC209496L4
- RC227894
- RC227894L3
- RC227894L4
- RG209496
- RG227894
- RR207812
- RR207812L3
- RR207812L4
- MR201903L3V
- MR201903L4V
- MR205234L3V
- MR205234L4V
- RC209496L3V
- RC209496L4V
- RC227894L3V
- RC227894L4V
- RR207812L3V
- RR207812L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LMAN2L
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LMAN2L
Cell Line Products
-
Horizon Cell Lines for LMAN2L
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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| cytosol | 1 |
| lysosome | 1 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IBA | 21873635 |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IBA,IDA | 12609988 |
| GO:0005793 | endoplasmic reticulum-Golgi intermediate compartment | IBA | 21873635 |
| GO:0005794 | Golgi apparatus | IEA,IDA | 12878160 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for LMAN2L Gene
Pathways & Interactions for LMAN2L Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport to the Golgi and subsequent modification | ||
| 2 | Vesicle-mediated transport | ||
| 3 | Metabolism of proteins | ||
Pathways by source for LMAN2L Gene
Interacting Proteins for LMAN2L Gene
Selected Interacting proteins:
Q9H0V9-LMA2L_HUMAN
ENSP00000366280
for LMAN2L Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for LMAN2L
| 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:0007029 | endoplasmic reticulum organization | IBA | 21873635 |
| GO:0007030 | Golgi organization | IBA | 21873635 |
| GO:0015031 | protein transport | IMP | 12878160 |
No data available for SIGNOR curated interactions for LMAN2L Gene
Drugs & Compounds for LMAN2L Gene
No Compound Related Data Available
Drug Products
- G Biosciences Human LMAN2L/VIP36-like protein, Lyophilized
Transcripts for LMAN2L Gene
mRNA/cDNA for LMAN2L Gene
- 10 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000264963 2397 nts (view in UCSC)
- ENST00000377079 2020 nts (view in UCSC)
- ENST00000434524 2410 nts (view in UCSC)
- ENST00000434865 1163 nts (view in UCSC)
- ENST00000440610 1008 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LMAN2L - Select products 50% OFF >
- * LMAN2L CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LMAN2L
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LMAN2L
-
Santa Cruz Biotechnology (SCBT) CRISPR for LMAN2L
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LMAN2L
- Browse OriGene Inhibitory RNA Products For LMAN2L
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMAN2L
Clone Products
- Applied Biological Materials (abm): Clones for LMAN2L - Select products 50% OFF >
- * LMAN2L as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG201903
- MG205234
- MR201903
- MR201903L3
- MR201903L4
- MR205234
- MR205234L3
- MR205234L4
- RC209496
- RC209496L3
- RC209496L4
- RC227894
- RC227894L3
- RC227894L4
- RG209496
- RG227894
- RR207812
- RR207812L3
- RR207812L4
- MR201903L3V
- MR201903L4V
- MR205234L3V
- MR205234L4V
- RC209496L3V
- RC209496L4V
- RC227894L3V
- RC227894L4V
- RR207812L3V
- RR207812L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LMAN2L
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LMAN2L
| 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
Expression for LMAN2L Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
- Oviduct
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
- Pancreas (Endocrine System)
- Blood (Hematopoietic System)
This gene is overexpressed in Nasal epithelium (53.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LMAN2L Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LMAN2L
SOURCE GeneReport for Unigene cluster for LMAN2L Gene:
Hs.655743mRNA 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(4.3)
- Muscle(4.2)
- Kidney(2.1)
Primer Products
-
OriGene qPCR primer pairs for LMAN2L
-
OriGene qPCR primer pairs and template standards for LMAN2L
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | LMAN2L 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LMAN2L 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | LMAN2L 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Lman2l 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | LMAN2L 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | LMAN2L 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LMAN2L 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | LMAN2L 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lman2l 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.32943 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | lman2la 30 |
|
||
| lman2lb 31 |
|
OneToMany | |||
| LMAN2L (1 of 2) 31 |
|
OneToMany | |||
| Dr.24968 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004407 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG5510 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | ile-2 30 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8400 31 |
|
OneToMany | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU06242 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC126.08c 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.275 30 |
|
- Species where no ortholog for LMAN2L was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for LMAN2L: view image
Paralogs for LMAN2L Gene
Variants for LMAN2L Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LMAN2L Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 736359 | Likely Benign: not provided | 96,707,793(-) | T/C | SYNONYMOUS_VARIANT | |
| 744658 | Likely Benign: not provided | 96,707,763(-) | G/A | SYNONYMOUS_VARIANT | |
| 758779 | Likely Benign: not provided | 96,711,707(-) | G/A | SYNONYMOUS_VARIANT | |
| 775745 | Benign: not provided | 96,711,646(-) | G/A | INTRON_VARIANT | |
| rs869320632 | Pathogenic: Mental retardation, autosomal recessive 52. Mental retardation, autosomal recessive 52 (MRT52) [MIM:616887] | 96,739,883(-) | C/Tp.Arg53Gln | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMAN2L Gene
Disorders for LMAN2L Gene
(4) MalaCards diseases for LMAN2L Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, autosomal recessive 52 |
|
|
| autosomal recessive non-syndromic intellectual disability |
|
|
| cerebellopontine angle tumor |
|
|
| auditory agnosia |
|
|
Search LMAN2L in MalaCards
View complete list of genes associated with diseases
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
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for LMAN2L Gene
Publications for LMAN2L Gene
- 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 23
- 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 23
- 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
- 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 41
- 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 41
ExternalLinks
Products for LMAN2L Gene
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- antibodies-online: Show 3 available LMAN2L Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for LMAN2L
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- Signalway Proteins for LMAN2L
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