Human Gene MAB21L2 (ENST00000317605.6_4) from GENCODE V47lift37
  Description: mab-21 like 2 (from RefSeq NM_006439.5)
Gencode Transcript: ENST00000317605.6_4
Gencode Gene: ENSG00000181541.6_7
Transcript (Including UTRs)
   Position: hg19 chr4:151,503,303-151,505,845 Size: 2,543 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr4:151,504,182-151,505,261 Size: 1,080 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:151,503,303-151,505,845)mRNA (may differ from genome)Protein (359 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MB212_HUMAN
DESCRIPTION: RecName: Full=Protein mab-21-like 2;
FUNCTION: Required for several aspects of embryonic development including normal development of the eye (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
SIMILARITY: Belongs to the mab-21 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAB21L2
Diseases sorted by gene-association score: microphthalmia/coloboma and skeletal dysplasia syndrome* (1650), colobomatous microphthalmia (6), microphthalmia (4), coloboma (3), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 129.01 RPKM in Colon - Sigmoid
Total median expression: 193.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -232.30879-0.264 Picture PostScript Text
3' UTR -106.90584-0.183 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020950 - Mab-21-rel
IPR024810 - Mab-21_dom
IPR024801 - Mab21L1
IPR000772 - Ricin_B_lectin

Pfam Domains:
PF03281 - Mab-21 protein

ModBase Predicted Comparative 3D Structure on Q9Y586
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0001654 eye development
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0008284 positive regulation of cell proliferation
GO:0010172 embryonic body morphogenesis
GO:0043010 camera-type eye development

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK055665 - Homo sapiens cDNA FLJ31103 fis, clone IMR322000072, highly similar to Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.
JD175016 - Sequence 156040 from Patent EP1572962.
AF262032 - Homo sapiens MAB21L2 protein (MAB21L2) mRNA, complete cds.
JD406289 - Sequence 387313 from Patent EP1572962.
BC009983 - Homo sapiens mab-21-like 2 (C. elegans), mRNA (cDNA clone MGC:15078 IMAGE:4125321), complete cds.
JD184407 - Sequence 165431 from Patent EP1572962.
JD440159 - Sequence 421183 from Patent EP1572962.
JD320108 - Sequence 301132 from Patent EP1572962.
AF370007 - Homo sapiens MAB21L2 protein mRNA, complete cds.
HQ448192 - Synthetic construct Homo sapiens clone IMAGE:100071588; CCSB006694_03 mab-21-like 2 (C. elegans) (MAB21L2) gene, encodes complete protein.
KJ893084 - Synthetic construct Homo sapiens clone ccsbBroadEn_02478 MAB21L2 gene, encodes complete protein.
JD217769 - Sequence 198793 from Patent EP1572962.
JD389410 - Sequence 370434 from Patent EP1572962.
JD150396 - Sequence 131420 from Patent EP1572962.
JD254002 - Sequence 235026 from Patent EP1572962.
JD170041 - Sequence 151065 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KP37, ENST00000317605.1, ENST00000317605.2, ENST00000317605.3, ENST00000317605.4, ENST00000317605.5, MB212_HUMAN, NM_006439, Q9HBA7, Q9Y586, uc317qgy.1, uc317qgy.2
UCSC ID: ENST00000317605.6_4
RefSeq Accession: NM_006439.5
Protein: Q9Y586 (aka MB212_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.