Human Gene MAMDC2 (ENST00000377182.5_4) from GENCODE V47lift37
  Description: MAM domain containing 2, transcript variant 2 (from RefSeq NR_125850.1)
Gencode Transcript: ENST00000377182.5_4
Gencode Gene: ENSG00000165072.10_8
Transcript (Including UTRs)
   Position: hg19 chr9:72,658,764-72,841,888 Size: 183,125 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr9:72,659,114-72,840,948 Size: 181,835 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:72,658,764-72,841,888)mRNA (may differ from genome)Protein (686 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MAMC2_HUMAN
DESCRIPTION: RecName: Full=MAM domain-containing protein 2; AltName: Full=MAM domain-containing proteoglycan; Short=Mamcan; Flags: Precursor;
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity).
PTM: O-glycosylated (By similarity).
SIMILARITY: Contains 4 MAM domains.

-  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: MAMDC2
Diseases sorted by gene-association score: kabuki syndrome 1 (1), west syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 59.17 RPKM in Fallopian Tube
Total median expression: 546.32 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -136.80350-0.391 Picture PostScript Text
3' UTR -174.80940-0.186 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
IPR008985 - ConA-like_lec_gl_sf
IPR000998 - MAM_dom

Pfam Domains:
PF00629 - MAM domain, meprin/A5/mu

SCOP Domains:
49899 - Concanavalin A-like lectins/glucanases

ModBase Predicted Comparative 3D Structure on Q7Z304
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    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005576 extracellular region
GO:0005783 endoplasmic reticulum
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC040299 - Homo sapiens MAM domain containing 2, mRNA (cDNA clone IMAGE:4823142), containing frame-shift errors.
BC045569 - Homo sapiens MAM domain containing 2, mRNA (cDNA clone IMAGE:4823361), containing frame-shift errors.
BC063634 - Homo sapiens MAM domain containing 2, mRNA (cDNA clone MGC:75273 IMAGE:4399866), complete cds.
AK304040 - Homo sapiens cDNA FLJ54321 complete cds, highly similar to MAM domain-containing protein 2 precursor.
BC016383 - Homo sapiens MAM domain containing 2, mRNA (cDNA clone MGC:27424 IMAGE:4696722), complete cds.
AK304531 - Homo sapiens cDNA FLJ50065 complete cds, highly similar to MAM domain-containing protein 2 precursor.
AM392767 - Synthetic construct Homo sapiens clone IMAGE:100002260 for hypothetical protein (MAMDC2 gene).
AB587476 - Synthetic construct DNA, clone: pF1KB8607, Homo sapiens MAMDC2 gene for MAM domain containing 2, without stop codon, in Flexi system.
BC015417 - Homo sapiens MAM domain containing 2, mRNA (cDNA clone IMAGE:4396073), complete cds.
KJ904082 - Synthetic construct Homo sapiens clone ccsbBroadEn_13476 MAMDC2 gene, encodes complete protein.
BX538309 - Homo sapiens mRNA; cDNA DKFZp686C09130 (from clone DKFZp686C09130).
JD360258 - Sequence 341282 from Patent EP1572962.
JD402153 - Sequence 383177 from Patent EP1572962.
JD299189 - Sequence 280213 from Patent EP1572962.
JD482871 - Sequence 463895 from Patent EP1572962.
JD242358 - Sequence 223382 from Patent EP1572962.
JD378351 - Sequence 359375 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000377182.1, ENST00000377182.2, ENST00000377182.3, ENST00000377182.4, MAMC2_HUMAN, NR_125850, Q5VW47, Q7Z304, Q8WX43, Q96BM4, uc318nlj.1, uc318nlj.2
UCSC ID: ENST00000377182.5_4
RefSeq Accession: NM_153267.5
Protein: Q7Z304 (aka MAMC2_HUMAN or MDC2_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.