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Aliases for MAB21L2 Gene

Aliases for MAB21L2 Gene

  • Mab-21-Like 2 (C. Elegans) 2 3
  • Mab-21 (C. Elegans)-Like 2 2
  • Protein Mab-21-Like 2 3
  • MCOPS14 3

External Ids for MAB21L2 Gene

Previous GeneCards Identifiers for MAB21L2 Gene

  • GC04P152311
  • GC04P151890
  • GC04P152080
  • GC04P151860
  • GC04P151722
  • GC04P151503
  • GC04P147228

Summaries for MAB21L2 Gene

Entrez Gene Summary for MAB21L2 Gene

  • This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAB21L2 Gene

MAB21L2 (Mab-21-Like 2 (C. Elegans)) is a Protein Coding gene. Diseases associated with MAB21L2 include microphthalmia, syndromic 14. An important paralog of this gene is MAB21L3.

UniProtKB/Swiss-Prot for MAB21L2 Gene

  • Required for several aspects of embryonic development including normal development of the eye.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAB21L2 Gene

Genomics for MAB21L2 Gene

Regulatory Elements for MAB21L2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MAB21L2 Gene

Start:
150,581,922 bp from pter
End:
150,584,693 bp from pter
Size:
2,772 bases
Orientation:
Plus strand

Genomic View for MAB21L2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MAB21L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAB21L2 Gene

Proteins for MAB21L2 Gene

  • Protein details for MAB21L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y586-MB212_HUMAN
    Recommended name:
    Protein mab-21-like 2
    Protein Accession:
    Q9Y586
    Secondary Accessions:
    • B3KP37
    • Q9HBA7

    Protein attributes for MAB21L2 Gene

    Size:
    359 amino acids
    Molecular mass:
    40923 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MAB21L2 Gene

Proteomics data for MAB21L2 Gene at MOPED

Post-translational modifications for MAB21L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAB21L2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAB21L2 Gene

Domains for MAB21L2 Gene

Protein Domains for MAB21L2 Gene

Suggested Antigen Peptide Sequences for MAB21L2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y586

UniProtKB/Swiss-Prot:

MB212_HUMAN :
  • Q9Y586
Family:
  • Belongs to the mab-21 family.
genes like me logo Genes that share domains with MAB21L2: view

No data available for Gene Families for MAB21L2 Gene

Function for MAB21L2 Gene

Molecular function for MAB21L2 Gene

GENATLAS Biochemistry:
mab-21 (C elegans)-like 2,member of a family of genes,involved in vertebrate neural development
UniProtKB/Swiss-Prot Function:
Required for several aspects of embryonic development including normal development of the eye.

Gene Ontology (GO) - Molecular Function for MAB21L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MAB21L2: view
genes like me logo Genes that share phenotypes with MAB21L2: view

Animal Models for MAB21L2 Gene

MGI Knock Outs for MAB21L2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MAB21L2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for MAB21L2 Gene

Localization for MAB21L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAB21L2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAB21L2 Gene COMPARTMENTS Subcellular localization image for MAB21L2 gene
Compartment Confidence
cytosol 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MAB21L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with MAB21L2: view

Pathways for MAB21L2 Gene

SuperPathways for MAB21L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MAB21L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001654 eye development IMP 24906020
GO:0007399 nervous system development TAS 10556287
GO:0008284 positive regulation of cell proliferation IEA --
GO:0010172 embryonic body morphogenesis IEA --
GO:0043010 camera-type eye development IEA --
genes like me logo Genes that share ontologies with MAB21L2: view

No data available for Pathways by source for MAB21L2 Gene

Transcripts for MAB21L2 Gene

mRNA/cDNA for MAB21L2 Gene

(37) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MAB21L2 Gene

Mab-21-like 2 (C. elegans):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MAB21L2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAB21L2 Gene

No ASD Table

Relevant External Links for MAB21L2 Gene

GeneLoc Exon Structure for
MAB21L2
ECgene alternative splicing isoforms for
MAB21L2

Expression for MAB21L2 Gene

mRNA expression in normal human tissues for MAB21L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAB21L2 Gene

This gene is overexpressed in Colon - Sigmoid (30.2), Colon - Transverse (10.0), and Small Intestine - Terminal Ileum (6.8).

Protein differential expression in normal tissues for MAB21L2 Gene

This gene is overexpressed in Fetal gut (57.7) and Colon (9.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for MAB21L2 Gene

SOURCE GeneReport for Unigene cluster for MAB21L2 Gene Hs.584852

genes like me logo Genes that share expressions with MAB21L2: view

Expression partners for MAB21L2 Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MAB21L2 Gene

Orthologs for MAB21L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAB21L2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MAB21L2 35
  • 94.89 (n)
  • 99.72 (a)
MAB21L2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAB21L2 35
  • 95.26 (n)
  • 99.72 (a)
MAB21L2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mab21l2 35
  • 92.39 (n)
  • 99.72 (a)
Mab21l2 16
Mab21l2 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAB21L2 35
  • 99.91 (n)
  • 100 (a)
MAB21L2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mab21l2 35
  • 92.29 (n)
  • 99.72 (a)
oppossum
(Monodelphis domestica)
Mammalia MAB21L2 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAB21L2 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAB21L2 36
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mab21l2 35
  • 83.66 (n)
  • 97.49 (a)
zebrafish
(Danio rerio)
Actinopterygii mab21l2 35
  • 82.27 (n)
  • 96.94 (a)
mab21l1 36
  • 93 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH11415 37
  • 73 (a)
CG4766 35
  • 68.9 (n)
  • 74.37 (a)
CG4766 36
  • 73 (a)
ManyToMany
mab-21 36
  • 74 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta MB21L_ANOGA 35
  • 69.17 (n)
  • 73.82 (a)
Species with no ortholog for MAB21L2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MAB21L2 Gene

ENSEMBL:
Gene Tree for MAB21L2 (if available)
TreeFam:
Gene Tree for MAB21L2 (if available)

Paralogs for MAB21L2 Gene

Paralogs for MAB21L2 Gene

Selected SIMAP similar genes for MAB21L2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MAB21L2: view

Variants for MAB21L2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MAB21L2 Gene

Variant ID Type Subtype PubMed ID
nsv880256 CNV Gain 21882294
nsv4547 CNV Loss 18451855

Relevant External Links for MAB21L2 Gene

HapMap Linkage Disequilibrium report
MAB21L2
Human Gene Mutation Database (HGMD)
MAB21L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for MAB21L2 Gene

Disorders for MAB21L2 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for MAB21L2 Gene in MalaCards »

(1) Diseases for MAB21L2 Gene including...

UniProtKB/Swiss-Prot

MB212_HUMAN
  • Microphthalmia, syndromic, 14 (MCOPS14) [MIM:615877]: A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS14 patients exhibit bilateral colobomatous microphthalmia or bilateral anophthalmia. Intellectual disability and rhizomelic skeletal dysplasia is present in some affected individuals. {ECO:0000269 PubMed:24906020}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with MAB21L2: view

No data available for OMIM , University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links for MAB21L2 Gene

Publications for MAB21L2 Gene

  1. Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development. (PMID: 10556287) Mariani M. … Consalez G.G. (Hum. Mol. Genet. 1999) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (PMID: 24906020) Rainger J. … FitzPatrick D.R. (Am. J. Hum. Genet. 2014) 3 4
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4

Products for MAB21L2 Gene

Sources for MAB21L2 Gene

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