MIA2 (MIA SH3 domain ER export factor 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4253
Gene name Gene Name - the full gene name approved by the HGNC.
MIA SH3 domain ER export factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MIA2
Synonyms (NCBI Gene) Gene synonyms aliases
CTAGE5, MEA6, MGEA, MGEA11, MGEA6, TALI
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 a
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
miRTarBase ID miRNA Experiments Reference
MIRT018024 hsa-miR-335-5p Microarray 18185580
MIRT023794 hsa-miR-1-3p Microarray 18668037
MIRT1147711 hsa-miR-1276 CLIP-seq
MIRT1147712 hsa-miR-4311 CLIP-seq
MIRT1147713 hsa-miR-4426 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0006888 Process Endoplasmic reticulum to Golgi vesicle-mediated transport IBA 21873635
GO:0009306 Process Protein secretion IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602132 18432 ENSG00000150527
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96PC5
Protein name Melanoma inhibitory activity protein 2 (MIA protein 2) (CTAGE family member 5 ER export factor) (Cutaneous T-cell lymphoma-associated antigen 5) (Meningioma-expressed antigen 6/11)
Protein function Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum (PubMed:21525241, PubMed:252
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07653 SH3_2 43 → 99 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in liver and weakly in testis. Expression was higher in patients with severe fibrosis or inflammation and chronic hepatitis (PubMed:12586826). Isoform 1 is specifically expressed in lung, testis, small intestine, colon
Sequence 
MAKFGVHRILLLAISLTKCLESTKLLADLKKCGDLECEALINRVSAMRDYRGPDCRYLNF
TKGEEISVYVKLAGEREDLWAGSKGKEFGYFPRDAVQIEEVFISEEIQMSTKESDFLCLL
GVSYTFDNEDSELNGDYGENIYPYEEDKDEKSSIYESDFQIEPGFYATYESTLFEDQVPA
LEAPEDIGSTSESKDWEEVVVESMEQDRIPEVHVPPSSAVSGVKEWFGLGGEQAEEKAFE
SVIEPVQESSFRSRKIAVEDENDLEELNNGEPQTEHQQESESEIDSVPKTQSELASESEH
IPKPQSTGWFGGGFTSYLGFGDEDTGLELIAEESNPPLQDFPNSISSDKEATVPCTEILT
EKKDTITNDSLSLKPSWFDFGFAILGFAYAKEDKIMLDDRKNEEDGGADEHEHPLTSELD
PEKEQEIETIKIIETEDQIDKKPVSEKTDESDTIPYLKKFLYNFDNPWNFQNIPKETELP
FPKQILDQNNVIENEETGEFSIDNYPTDNTKVMIFKSSYSLSDMVSNIELPTRIHEEVYF
EPSSSKDSDENSKPSVDTEGPALVEIDRSVENTLLNSQMVSTDNSLSSQNYISQKEDASE
FQILKYLFQIDVYDFMNSAFSPIVILTERVVAALPEGMRPDSNLYGFPWELVICAAVVGF
FAVLFFLWRSFRSVRSRLYVGREKKLALMLSGLIEEKSKLLEKFSLVQKEYEGYEVESSL
KDASFEKEATEAQSLEATCEKLNRSNSELEDEILCLEKELKEEKSKHSEQDELMADISKR
IQSLEDESKSLKSQVAEAKMTFKIFQMNEERLKIAIKDALNENSQLQESQKQLLQEAEVW
KEQVSELNKQKVTFEDSKVHAEQVLNDKESHIKTLTERLLKMKDWAAMLGEDITDDDNLE
LEMNSESENGAYLDNPPKGALKKLIHAAKLNASLKTLEGERNQIYIQLSEVDKTKEELTE
HIKNLQTEQASLQSENTHFENENQKLQQKLKVMTELYQENEMKLHRKLTVEENYRLEKEE
KLSKVDEKISHATEELETYRKRAKDLEEELERTIHSYQGQIISHEKKAHDNWLAARNAER
NLNDLRKENAHNRQKLTETELKFELLEKDPYALDVPNTAFGREHSPYGPSPLGWPSSETR
AFLSPPTLLEGPLRLSPLLPGGGGRGSRGPGNPLDHQITNERGESSCDRLTDPHRAPSDT
GSLSPPWDQDRRMMFPPPGQSYPDSALPPQRQDRFCSNSGRLSGPAELRSFNMPSLDKMD
GSMPSEMESSRNDTKDDLGNLNVPDSSLPAENEATGPGFVPPPLAPIRGPLFPVDARGPF
LRRGPPFPPPPPGAMFGASRDYFPPGDFPGPPPAPFAMRNVYPPRGFPPYLPPRPGFFPP
PPHSEGRSEFPSGLIPPSNEPATEHPEPQQET
Sequence length 1412
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Cargo concentration in the ER
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Show/Hide Text Mining Associations (16)
Associations from Text Mining
Disease Name Relationship Type References
Anophthalmia with pulmonary hypoplasia Associate 25657029
Chemical and Drug Induced Liver Injury Associate 12586826
Colonic Neoplasms Associate 12839582
Fahr's disease Associate 17917073
Fibrosis Associate 12586826
Hepatitis C Chronic Stimulate 12586826
Inflammation Associate 12586826
Liver Diseases Associate 12586826
Lymphoma T Cell Cutaneous Associate 12839582
Neoplasm Metastasis Associate 23511560