Human Gene MIA2 (ENST00000640607.1) Description and Page Index
  Description: Homo sapiens MIA SH3 domain ER export factor 2 (MIA2), transcript variant 8, mRNA. (from RefSeq NM_001329214)
RefSeq Summary (NM_001329214): This gene encodes s receptor in the endoplasmic reticulum, which plays a role in the export of large pre-chylomicrons and pre-very low density lipoproteins (pre-VLDLs). Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species (TANGO1-like or TALI). Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Sep 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: KX388743.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000640607.1
Gencode Gene: ENSG00000150527.17
Transcript (Including UTRs)
   Position: hg38 chr14:39,234,115-39,350,264 Size: 116,150 Total Exon Count: 29 Strand: +
Coding Region
   Position: hg38 chr14:39,234,115-39,350,264 Size: 116,150 Coding Exon Count: 29 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:39,234,115-39,350,264)mRNA (may differ from genome)Protein (1412 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
HGNCLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  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.

-  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           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.89 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 40.10 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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF07653 - Variant SH3 domain

ModBase Predicted Comparative 3D Structure on Q96PC5
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-  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
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  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
  HQ257989 - Synthetic construct Homo sapiens clone IMAGE:100072298 CTAGE family, member 5 (CTAGE5) gene, encodes complete protein.
KX388743 - Homo sapiens TALI (CTAGE5) mRNA, complete cds.
AK298935 - Homo sapiens cDNA FLJ55352 complete cds, highly similar to Cutaneous T-cell lymphoma-associated antigen 5.
BX648014 - Homo sapiens mRNA; cDNA DKFZp686M2159 (from clone DKFZp686M2159).
BX640994 - Homo sapiens mRNA; cDNA DKFZp686F08252 (from clone DKFZp686F08252).
AL832233 - Homo sapiens mRNA; cDNA DKFZp686F2453 (from clone DKFZp686F2453).
AK091252 - Homo sapiens cDNA FLJ33933 fis, clone CTONG2017804, highly similar to Cutaneous T-cell lymphoma-associated antigen 5.
AF338233 - Homo sapiens CTAGE-5A protein mRNA, complete cds, alternatively spliced.
AL833415 - Homo sapiens mRNA; cDNA DKFZp313K0722 (from clone DKFZp313K0722).
U94780 - Human meningioma-expressed antigen 6 (MEA6) mRNA, complete cds.
BC064355 - Homo sapiens CTAGE family, member 5, mRNA (cDNA clone MGC:75562 IMAGE:4803802), complete cds.
AF338234 - Homo sapiens CTAGE-5B protein mRNA, complete cds, alternatively spliced.
BC039017 - Homo sapiens CTAGE family, member 5, mRNA (cDNA clone IMAGE:5770231), complete cds.
AK315254 - Homo sapiens cDNA, FLJ96258.
BC051363 - Homo sapiens CTAGE family, member 5, mRNA (cDNA clone MGC:59810 IMAGE:4576721), complete cds.
U73682 - Human meningioma-expressed antigen 11 (MEA11) mRNA, partial cds.
KJ901573 - Synthetic construct Homo sapiens clone ccsbBroadEn_10967 CTAGE5 gene, encodes complete protein.
AB209528 - Homo sapiens mRNA for CTAGE family, member 5 isoform 1 variant protein.
KJ901574 - Synthetic construct Homo sapiens clone ccsbBroadEn_10968 CTAGE5 gene, encodes complete protein.
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.
AK026057 - Homo sapiens cDNA: FLJ22404 fis, clone HRC08175.
JD167954 - Sequence 148978 from Patent EP1572962.
KM576733 - Homo sapiens clone MIA2-CTAGE5_M6middle-C4 mRNA sequence.
AK055791 - Homo sapiens cDNA FLJ31229 fis, clone KIDNE2004519.
BC029513 - Homo sapiens CTAGE family, member 5, mRNA (cDNA clone IMAGE:5287042), partial cds.
JD095402 - Sequence 76426 from Patent EP1572962.
JD170829 - Sequence 151853 from Patent EP1572962.
JD073231 - Sequence 54255 from Patent EP1572962.
JD084573 - Sequence 65597 from Patent EP1572962.
JD412565 - Sequence 393589 from Patent EP1572962.
JD389039 - Sequence 370063 from Patent EP1572962.
JD133150 - Sequence 114174 from Patent EP1572962.
JD544773 - Sequence 525797 from Patent EP1572962.
JD497331 - Sequence 478355 from Patent EP1572962.
JD298930 - Sequence 279954 from Patent EP1572962.
JD549826 - Sequence 530850 from Patent EP1572962.
JD102450 - Sequence 83474 from Patent EP1572962.
JD102451 - Sequence 83475 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A1L4H0, MIA2_HUMAN, NM_001329214, Q96PC5, Q9H6C1, uc285ljb.1
UCSC ID: uc285ljb.1
RefSeq Accession: NM_001329214
Protein: Q96PC5 (aka MIA2_HUMAN)

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