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MIA2 melanoma inhibitory activity 2 [ Homo sapiens (human) ]

Gene ID: 117153, discontinued on 10-Sep-2016

Summary

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Official Symbol
MIA2provided by HGNC
Official Full Name
melanoma inhibitory activity 2provided by HGNC
Primary source
HGNC:HGNC:18432
See related
MIM:608001
Gene type
protein coding
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CTAGE5
Summary
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]
Expression
Biased expression in small intestine (RPKM 12.6), duodenum (RPKM 10.3) and 5 other tissues See more
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Genomic context

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Location:
14q13.2
Annotation release Status Assembly Chr Location
105 latest, but not current GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (39703125..39722575)
105 latest, but not current HuRef (GCF_000002125.1) 14 AC_000146.1 (19817069..19836353)
105 latest, but not current CHM1_1.1 (GCF_000306695.2) 14 NC_018925.2 (39701740..39721192)

Bibliography

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GeneRIFs: Gene References Into Functions

Variation

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See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

Clone Names

  • FLJ22404, FLJ31229, FLJ33933, FLJ55352, FLJ96258, MGC59810, MGC75562, DKFZp313K0722, DKFZp686F2453, DKFZp686M2159, DKFZp686F08252

General protein information

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Names
melanoma inhibitory activity 2
CTAGE family member 5, ER export factor
melanoma inhibitory activity protein 2
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96PC5.3 GenPept UniProtKB/Swiss-Prot:Q96PC5

Gene LinkOut

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