Human Gene MIA2 (ENST00000280082.4_6) from GENCODE V47lift37
  Description: MIA SH3 domain ER export factor 2, transcript variant 9 (from RefSeq NM_054024.4)
Gencode Transcript: ENST00000280082.4_6
Gencode Gene: ENSG00000150527.18_13
Transcript (Including UTRs)
   Position: hg19 chr14:39,703,120-39,722,843 Size: 19,724 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr14:39,703,319-39,722,453 Size: 19,135 Coding Exon Count: 6 

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 (chr14:39,703,120-39,722,843)mRNA (may differ from genome)Protein (654 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MIA2_HUMAN
DESCRIPTION: RecName: Full=Melanoma inhibitory activity protein 2; Flags: Precursor;
FUNCTION: May play a role in the pathophysiology of liver disease and may serve as a marker of liver damage.
SUBCELLULAR LOCATION: Secreted (Potential).
TISSUE SPECIFICITY: Highly expressed in liver and weakly in testis. Expression was higher in patients with severe fibrosis or inflammation and chronic hepatitis.
SIMILARITY: Belongs to the MIA/OTOR family.
SIMILARITY: Contains 1 SH3 domain.

-  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: MIA2
Diseases sorted by gene-association score: melanoma (4)

-  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: 1.10 RPKM in Liver
Total median expression: 4.34 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 -39.90199-0.201 Picture PostScript Text
3' UTR -90.20390-0.231 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
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF07653 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain

ModBase Predicted Comparative 3D Structure on Q96PC5
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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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042954 lipoprotein transporter activity

Biological Process:
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0035459 cargo loading into vesicle
GO:0042953 lipoprotein transport

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070971 endoplasmic reticulum exit site


-  Descriptions from all associated GenBank mRNAs
  AK314069 - Homo sapiens cDNA, FLJ94735, Homo sapiens melanoma inhibitory activity protein 2 (MIA2), mRNA.
BX648228 - Homo sapiens mRNA; cDNA DKFZp779M1842 (from clone DKFZp779M1842).
BC035981 - Homo sapiens melanoma inhibitory activity 2, mRNA (cDNA clone IMAGE:4610316), partial cds.
BC130537 - Homo sapiens melanoma inhibitory activity 2, mRNA (cDNA clone MGC:163409 IMAGE:40146568), complete cds.
BC130563 - Homo sapiens melanoma inhibitory activity 2, mRNA (cDNA clone MGC:163435 IMAGE:40146594), complete cds.
AB527370 - Synthetic construct DNA, clone: pF1KE0331, Homo sapiens MIA2 gene for melanoma inhibitory activity 2, without stop codon, in Flexi system.
AM393252 - Synthetic construct Homo sapiens clone IMAGE:100002586 for hypothetical protein (MIA2 gene).
AM393582 - Synthetic construct Homo sapiens clone IMAGE:100002585 for hypothetical protein (MIA2 gene).
HQ258350 - Synthetic construct Homo sapiens clone IMAGE:100072659 melanoma inhibitory activity 2 (MIA2) gene, encodes complete protein.
KJ895327 - Synthetic construct Homo sapiens clone ccsbBroadEn_04721 MIA2 gene, encodes complete protein.
AF390175 - Homo sapiens melanoma inhibitory activity protein 2 mRNA, complete cds.
KX388743 - Homo sapiens TALI (CTAGE5) mRNA, complete cds.
AK026057 - Homo sapiens cDNA: FLJ22404 fis, clone HRC08175.
JD167954 - Sequence 148978 from Patent EP1572962.
KM576733 - Homo sapiens clone MIA2-CTAGE5_M6middle-C4 mRNA sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A193H6U5, A1L4H0, B3KRA6, B4DQS6, CTAGE5 , D3DSA6, ENST00000280082.1, ENST00000280082.2, ENST00000280082.3, G3XAC5, MEA11, MEA6, MGEA11, MGEA6, MIA2 , MIA2_HUMAN, NM_054024, O00169, O15320, Q6MZN2, Q6P2R8, Q86TF6, Q8IX92, Q8IX93, Q96PC5, Q9H6C1, uc317jst.1
UCSC ID: ENST00000280082.4_6
RefSeq Accession: NM_054024.4
Protein: Q96PC5 (aka MIA2_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.