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Aliases for MAB21L2 Gene

Aliases for MAB21L2 Gene

  • Mab-21 Like 2 2 3 5
  • Mab-21 (C. Elegans)-Like 2 2
  • Mab-21-Like 2 (C. Elegans) 2
  • Protein Mab-21-Like 2 3
  • MCOPS14 3
  • MCSKS14 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) is a Protein Coding gene. Diseases associated with MAB21L2 include Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome and Colobomatous Microphthalmia. An important paralog of this gene is MAB21L1.

UniProtKB/Swiss-Prot for MAB21L2 Gene

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

Additional gene information for MAB21L2 Gene

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

Genomics for MAB21L2 Gene

GeneHancer (GH) Regulatory Elements for MAB21L2 Gene

Promoters and enhancers for MAB21L2 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
GH04J150577 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.5 1481 11.1 SIN3A FEZF1 KLF14 ZNF2 RAD21 YY1 CHAMP1 ZNF335 GLIS2 ZNF366 MAB21L2 LRBA ENSG00000270681 FAM160A1 RPS3A ENSG00000249690 GC04P150691
GH04J150509 Enhancer 0.6 Ensembl ENCODE 16.4 -71.5 -71450 1.6 SP1 CEBPB FOSL2 MAB21L2 LRBA ENSG00000249690 DCLK2 LOC100419161
GH04J150721 Enhancer 0.9 Ensembl ENCODE 10 +141.4 141446 2.8 CTCF FOXA2 MAX MZF1 RAD21 YY1 ZNF316 ZBTB48 HNF4G MAFK MAB21L2 ENSG00000249690 LRBA ENSG00000270681 RPS3A ZBTB8OSP1 GC04P150764
GH04J150540 Enhancer 0.7 ENCODE 11.7 -41.1 -41107 1.2 JUN CEBPG CHAMP1 FOSL1 ZNF766 ZNF316 NFE2 MAFK SMARCE1 CEBPB ENSG00000249690 MAB21L2 LRBA LOC100419161
GH04J150664 Enhancer 0.6 ENCODE 10.8 +83.2 83200 1.7 HLF CEBPB CEBPG EP300 GATA3 CEBPA STAT3 BCL6 FOS TCF7L2 MAB21L2 ENSG00000249690 LRBA ENSG00000270681 SH3D19 RPS3A GC04P150691
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAB21L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAB21L2 gene promoter:
  • E2F-3a
  • FOXL1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-4
  • E2F-5
  • CUTL1
  • Nkx2-5
  • Egr-2

Genomic Locations for MAB21L2 Gene

Genomic Locations for MAB21L2 Gene
chr4:150,581,922-150,584,693
(GRCh38/hg38)
Size:
2,772 bases
Orientation:
Plus strand
chr4:151,503,077-151,505,845
(GRCh37/hg19)
Size:
2,769 bases
Orientation:
Plus strand

Genomic View for MAB21L2 Gene

Genes around MAB21L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAB21L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for MAB21L2 Gene

Gene Families for MAB21L2 Gene

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

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

Function for MAB21L2 Gene

Molecular function for MAB21L2 Gene

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

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

Human Phenotype Ontology for MAB21L2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAB21L2 Gene

MGI Knock Outs for MAB21L2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for MAB21L2 Gene

Localization for MAB21L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAB21L2 Gene

Nucleus. Cytoplasm. Note=Predominantly localizes to the nucleus, with some cytoplasmic localization (PubMed:25719200). {ECO:0000269 PubMed:25719200}.

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 MAB21L2 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (4)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAB21L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 25719200
GO:0005737 cytoplasm IEA,IDA 25719200
genes like me logo Genes that share ontologies with MAB21L2: view

Pathways & Interactions 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:0007275 multicellular organism development IEA --
GO:0007399 nervous system development TAS 10556287
GO:0008284 positive regulation of cell proliferation IEA --
GO:0010172 embryonic body morphogenesis IEA --
genes like me logo Genes that share ontologies with MAB21L2: view

No data available for Pathways by source and SIGNOR curated interactions for MAB21L2 Gene

Drugs & Compounds for MAB21L2 Gene

No Compound Related Data Available

Transcripts for MAB21L2 Gene

mRNA/cDNA for MAB21L2 Gene

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

Unigene Clusters for MAB21L2 Gene

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x30.2), Colon - Transverse (x10.0), and Small Intestine - Terminal Ileum (x6.8).

Protein differential expression in normal tissues from HIPED for MAB21L2 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAB21L2 Gene



Protein tissue co-expression partners for MAB21L2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MAB21L2 Gene:

MAB21L2

SOURCE GeneReport for Unigene cluster for MAB21L2 Gene:

Hs.584852

Evidence on tissue expression from TISSUES for MAB21L2 Gene

  • Nervous system(4.4)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAB21L2 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • eye
  • head
genes like me logo Genes that share expression patterns with MAB21L2: view

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
oppossum
(Monodelphis domestica)
Mammalia MAB21L2 34
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAB21L2 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAB21L2 34 33
  • 99.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MAB21L2 34 33
  • 95.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MAB21L2 34 33
  • 94.89 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mab21l2 16 34 33
  • 92.39 (n)
rat
(Rattus norvegicus)
Mammalia Mab21l2 33
  • 92.29 (n)
chicken
(Gallus gallus)
Aves MAB21L2 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mab21l2 33
  • 83.66 (n)
zebrafish
(Danio rerio)
Actinopterygii mab21l1 34
  • 93 (a)
ManyToMany
mab21l2 33
  • 82.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta mab-21 34
  • 74 (a)
ManyToMany
BcDNA:GH11415 35
  • 73 (a)
CG4766 34 33
  • 68.9 (n)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta MB21L_ANOGA 33
  • 69.17 (n)
Species where no ortholog for MAB21L2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MAB21L2: view image

Paralogs for MAB21L2 Gene

Paralogs for MAB21L2 Gene

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

  • MB212_HUMAN
genes like me logo Genes that share paralogs with MAB21L2: view

Variants for MAB21L2 Gene

Sequence variations from dbSNP and Humsavar for MAB21L2 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs587777511 conflicting-interpretations-of-pathogenicity, Microphthalmia/coloboma and skeletal dysplasia syndrome, Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877] 150,583,181(+) G/A coding_sequence_variant, missense_variant
rs587777512 pathogenic, conflicting-interpretations-of-pathogenicity, Microphthalmia/coloboma and skeletal dysplasia syndrome, Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877] 150,583,180(+) C/G/T coding_sequence_variant, missense_variant
rs587777513 conflicting-interpretations-of-pathogenicity, Microphthalmia/coloboma and skeletal dysplasia syndrome, Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877] 150,583,174(+) G/A coding_sequence_variant, missense_variant
rs587777514 conflicting-interpretations-of-pathogenicity, Microphthalmia/coloboma and skeletal dysplasia syndrome, Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877] 150,583,769(+) G/A/T coding_sequence_variant, missense_variant
VAR_079053 Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877] p.Arg51Gly

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

Variant ID Type Subtype PubMed ID
nsv1024820 CNV gain 25217958
nsv4547 CNV deletion 18451855

Variation tolerance for MAB21L2 Gene

Residual Variation Intolerance Score: 25.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAB21L2 Gene

Human Gene Mutation Database (HGMD)
MAB21L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAB21L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAB21L2 Gene

Disorders for MAB21L2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MAB21L2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia/coloboma and skeletal dysplasia syndrome
  • mcsks
colobomatous microphthalmia
  • microphthalmia with colobomatous cyst
microphthalmia
  • microphthalmos
coloboma of macula
  • agenesis of macula
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MB212_HUMAN
  • Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877]: A disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases. Additional ocular findings include microcornea, cataracts, corectopia and nystagmus. Intellectual disability is present in some patients. {ECO:0000269 PubMed:24906020, ECO:0000269 PubMed:25719200}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MAB21L2

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

No data available for Genatlas for MAB21L2 Gene

Publications for MAB21L2 Gene

  1. Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. (PMID: 25719200) Deml B … Semina EV (PLoS genetics 2015) 3 4 58
  2. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (PMID: 24906020) Rainger J … FitzPatrick DR (American journal of human genetics 2014) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development. (PMID: 10556287) Mariani M … Consalez GG (Human molecular genetics 1999) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MAB21L2 Gene

Sources for MAB21L2 Gene

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