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
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.
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.