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Aliases for MIA3 Gene
Aliases for MIA3 Gene
External Ids for MIA3 Gene
- HGNC: 24008
- NCBI Entrez Gene: 375056
- Ensembl: ENSG00000154305
- OMIM®: 613455
- UniProtKB/Swiss-Prot: Q5JRA6
Previous GeneCards Identifiers for MIA3 Gene
- GC01U901180
- GC01P220858
- GC01P222791
- GC01P193465
Summaries for MIA3 Gene
GeneCards Summary for MIA3 Gene
MIA3 (MIA SH3 Domain ER Export Factor 3) is a Protein Coding gene. Diseases associated with MIA3 include Alcoholic Neuropathy and Melanoma. Among its related pathways are Vesicle-mediated transport and Metabolism of proteins. An important paralog of this gene is MIA2.
UniProtKB/Swiss-Prot Summary for MIA3 Gene
-
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. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. It may participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells that do not secrete COL7A1. It is also specifically required for the secretion of lipoproteins by participating in their export from the endoplasmic reticulum (PubMed:27138255, PubMed:19269366). Required for correct assembly of COPII coat components at endoplasmic reticulum exit sites (ERES) and for the localization of SEC16A and membrane-bound ER-resident complexes consisting of MIA2 and PREB/SEC12 to ERES (PubMed:28442536).
Additional gene information for MIA3 Gene
- HGNC (24008)
- NCBI Entrez Gene (375056)
- Ensembl (ENSG00000154305)
- OMIM® (613455)
- UniProtKB/Swiss-Prot (Q5JRA6)
- Open Targets Platform(ENSG00000154305)
- Monarch Initiative
- Search for MIA3 at DataMed
- Search for MIA3 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MIA3 Gene
Genomics for MIA3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MIA3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MIA3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MIA3
Genomic Locations for MIA3 Gene
Latest Assembly
- chr1:222,618,097-222,668,007
- (GRCh38/hg38)
- Size:
- 49,911 bases
- Orientation:
- Plus strand
Previous Assembly
- chr1:222,791,439-222,841,349
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 49,911 bases
- Orientation:
- Plus strand
- chr1:222,791,428-222,841,354
- (GRCh37/hg19 by Ensembl)
- Size:
- 49,927 bases
- Orientation:
- Plus strand
Genomic View for MIA3 Gene
Genes around MIA3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q41 by HGNC
- 1q41 by Entrez Gene
- 1q41 by Ensembl
MIA3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MIA3 Gene
Proteins for MIA3 Gene
-
Protein details for MIA3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5JRA6-TGO1_HUMAN
- Recommended name:
- Transport and Golgi organization protein 1 homolog
- Protein Accession:
- Q5JRA6
- A8K2S0
- A8MT05
- A8MT13
- B7Z430
- Q14083
- Q3S4X3
- Q5JRA5
- Q5JRB0
- Q5JRB1
- Q5JRB2
- Q6UVY8
- Q86Y60
- Q8N8M5
- Q92580
Protein attributes for MIA3 Gene
- Size:
- 1907 amino acids
- Molecular mass:
- 213702 Da
- Quaternary structure:
-
- Interacts with MIA2 (PubMed:21525241). Interacts (via SH3 domain) with COL7A1 (PubMed:19269366). Interacts with the COPII coat subunits SEC23A, SEC23B and maybe SEC24C (PubMed:19269366, PubMed:27551091, PubMed:28442536). May interact with APOB and MIA2 (PubMed:27138255). Isoform 1 and isoform 4 interact with SEC16A (PubMed:28442536).
- SequenceCaution:
-
- Sequence=BAC04810.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAF83024.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for MIA3 Gene
Post-translational modifications for MIA3 Gene
Other Protein References for MIA3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences TANGO / MIA3 Antibody
- G Biosciences Immunotag™ MIA3 Antibody
- GeneTex Anti-MIA3 antibody [N1], N-term
-
Custom Antibody ServicesOriGene Antibodies for MIA3
- Novus Biologicals Antibodies for MIA3
-
Abcam antibodies for MIA3
- Invitrogen Antibodies for MIA3 (AFLGC-MIA3)
-
Boster Bio Antibodies for MIA3
-
Custom Antibody ServicesProSci Antibodies for MIA3
-
Santa Cruz Biotechnology (SCBT) Antibodies for MIA3
- Sino Biological Antibodies for MIA3
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MIA3
- Origene Custom Protein Services for MIA3
- Novus Biologicals proteins for MIA3
- antibodies-online: Show 4 available MIA3 Proteins ranked by validation data
- Compare Top MIA3 Proteins
-
Quality Products:
Assay products for research
- antibodies-online: Search results for available MIA3 related products ranked by validation data
No data available for DME Specific Peptides for MIA3 Gene
Domains & Families for MIA3 Gene
Gene Families for MIA3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for MIA3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MIA3 Gene
- GenScript: Design optimal peptide antigens:
-
- Transport and Golgi organization protein 1 (MIA3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q5JRA6UniProtKB/Swiss-Prot:
TGO1_HUMAN :- The proline-rich domain (PRD) contains repeated PPP motifs. A single PPP motif is necessary and sufficient to mediate interaction with the COPII coat subunits SEC23A and SEC23B.
- Belongs to the MIA/OTOR family. Tango1 subfamily.
- Domain:
-
- The proline-rich domain (PRD) contains repeated PPP motifs. A single PPP motif is necessary and sufficient to mediate interaction with the COPII coat subunits SEC23A and SEC23B.
- Although 2 transmembrane domains are predicted, PubMed:19269366 showed that it only contains one transmembrane domain. The other predicted transmembrane region is probably a hairpin-type region embedded into the membrane, which does not cross the membrane. It is unclear which of the 2 predicted transmembrane regions is the transmembrane or the hairpin-type region.
- Family:
-
- Belongs to the MIA/OTOR family. Tango1 subfamily.
Function for MIA3 Gene
Molecular function for MIA3 Gene
- UniProtKB/Swiss-Prot 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. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. It may participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells that do not secrete COL7A1. It is also specifically required for the secretion of lipoproteins by participating in their export from the endoplasmic reticulum (PubMed:27138255, PubMed:19269366). Required for correct assembly of COPII coat components at endoplasmic reticulum exit sites (ERES) and for the localization of SEC16A and membrane-bound ER-resident complexes consisting of MIA2 and PREB/SEC12 to ERES (PubMed:28442536).
Phenotypes From GWAS Catalog for MIA3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17726152 |
| GO:0038024 | cargo receptor activity | IMP | 27138255 |
Phenotypes for MIA3 Gene
- MGI mutant phenotypes for MIA3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for MIA3:
Animal Models for MIA3 Gene
- MGI Knock Outs for MIA3:
-
- Mia3 Mia3<tm1Lex>
Animal Models for research
-
Taconic Biosciences Mouse Models for MIA3
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MIA3 - Starting at $85 >
- * MIA3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MIA3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MIA3
-
Santa Cruz Biotechnology (SCBT) CRISPR for MIA3
miRNA for MIA3 Gene
- miRTarBase miRNAs that target MIA3
-
- hsa-miR-26b-5p (MIRT029370)
- hsa-miR-384 (MIRT535948)
- hsa-miR-3685 (MIRT535949)
- hsa-miR-7975 (MIRT535950)
- hsa-miR-5571-3p (MIRT535951)
- hsa-miR-155-3p (MIRT535952)
- hsa-miR-4724-3p (MIRT535953)
- hsa-miR-3124-3p (MIRT535954)
- hsa-miR-3667-3p (MIRT535955)
- hsa-miR-4795-3p (MIRT623246)
- hsa-miR-1236-3p (MIRT623247)
- hsa-miR-4528 (MIRT623248)
- hsa-miR-2681-5p (MIRT717950)
- hsa-miR-6885-3p (MIRT717951)
- hsa-miR-6772-3p (MIRT717952)
- hsa-miR-127-5p (MIRT717953)
- hsa-miR-7843-3p (MIRT717954)
- hsa-miR-3140-3p (MIRT717955)
- hsa-miR-4448 (MIRT717956)
- hsa-miR-4268 (MIRT717957)
- hsa-miR-6806-3p (MIRT717958)
- hsa-miR-3928-5p (MIRT717959)
- hsa-miR-208b-5p (MIRT717960)
- hsa-miR-208a-5p (MIRT717961)
- hsa-miR-92b-3p (MIRT727199)
- hsa-miR-32-5p (MIRT727200)
- hsa-miR-92a-3p (MIRT727201)
- hsa-miR-30e-5p (MIRT727202)
- hsa-miR-30d-5p (MIRT727203)
- hsa-miR-30c-5p (MIRT727204)
- hsa-miR-30a-5p (MIRT727205)
- hsa-miR-30b-5p (MIRT727206)
Transcription Factor Targets for MIA3 Gene
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MIA3
- Browse OriGene Inhibitory RNA Products For MIA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIA3
Clone products for research
- Applied Biological Materials (abm): Clones for MIA3 - Starting at $45 >
- * MIA3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MIA3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MIA3
Cell Lines for research
-
Horizon Cell Lines for MIA3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for MIA3 Gene
Localization for MIA3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MIA3 Gene
- Endoplasmic reticulum membrane. Single-pass membrane protein. Note=Localizes at endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). SEC16A is required for its proper localization to ERES. After loading of COL7A1 into transport carriers, it is not incorporated into COPII carriers and remains in the endoplasmic reticulum membrane. {ECO:0000269 PubMed:19269366, ECO:0000269 PubMed:21525241, ECO:0000269 PubMed:28442536}.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| golgi apparatus | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| peroxisome | 0 |
- Vesicles (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
Pathways & Interactions for MIA3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport to the Golgi and subsequent modification | ||
| 2 | Vesicle-mediated transport | ||
| 3 | Metabolism of proteins | ||
Pathways by source for MIA3 Gene
8 Reactome pathways for MIA3 Gene
Interacting Proteins for MIA3 Gene
Selected Interacting proteins:
Q5JRA6-TGO1_HUMAN
ENSP00000340900
for MIA3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for MIA3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002042 | cell migration involved in sprouting angiogenesis | IMP | 28341552 |
| GO:0002687 | positive regulation of leukocyte migration | IDA | 17726152 |
| GO:0006887 | exocytosis | IMP | 19269366 |
| GO:0006888 | ER to Golgi vesicle-mediated transport | TAS | -- |
| GO:0006897 | endocytosis | IEA | -- |
No data available for SIGNOR curated interactions for MIA3 Gene
Transcripts for MIA3 Gene
mRNA/cDNA for MIA3 Gene
- 6 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000340535 2735 nts (view in UCSC)
- ENST00000344922 8126 nts (view in UCSC)
- ENST00000354906 3045 nts (view in UCSC)
- ENST00000450260 605 nts (view in UCSC)
- ENST00000467190 553 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MIA3 - Starting at $85 >
- * MIA3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MIA3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MIA3
-
Santa Cruz Biotechnology (SCBT) CRISPR for MIA3
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MIA3
- Browse OriGene Inhibitory RNA Products For MIA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIA3
Clone products for research
- Applied Biological Materials (abm): Clones for MIA3 - Starting at $45 >
- * MIA3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MIA3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MIA3
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||
| SP12: |
Relevant External Links for MIA3 Gene
- GeneLoc Exon Structure for
- MIA3
Expression for MIA3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Nasal epithelium (15.5), Pancreas (11.4), and Stomach (11.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MIA3 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MIA3
SOURCE GeneReport for Unigene cluster for MIA3 Gene:
Hs.118474mRNA Expression by UniProt/SwissProt for MIA3 Gene:
Q5JRA6-TGO1_HUMAN
Tissue specificity:
Broadly expressed, except in bone marrow and peripheral blood mononuclear cells. Down-regulated in melanoma tissue.
Evidence on tissue expression from TISSUES for MIA3 Gene
- Nervous system(4.8)
- Liver(4.7)
- Bone marrow(4.2)
- Intestine(2.9)
- Heart(2.5)
- Blood(2.5)
- Pancreas(2.4)
- Lung(2.3)
- Muscle(2.2)
- Kidney(2.1)
- Skin(2)
Primer products for research
-
OriGene qPCR primer pairs for MIA3
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MIA3 Gene
Orthologs for MIA3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Cow (Bos Taurus) |
Mammalia | MIA3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MIA3 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mia3 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Mia3 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | MIA3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MIA3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MIA3 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MIA3 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | mia3 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Tango1 31 |
|
OneToMany |
- Species where no ortholog for MIA3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chimpanzee (Pan troglodytes)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for MIA3 Gene
- ENSEMBL:
- Gene Tree for MIA3 (if available)
- TreeFam:
- Gene Tree for MIA3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MIA3: view image
Paralogs for MIA3 Gene
Variants for MIA3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MIA3 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs142088763 | Benign: not provided | 222,628,319(+) |
A/T NM_198551.4(MIA3):c.1099A>T (p.Thr367Ser) |
MISSENSE | |
| rs17854428 | - |
p.Lys1723Glu |
|||
| rs17857325 | - |
p.Gly1659Cys |
|||
| rs2936051 | - |
p.Glu881Gly |
|||
| rs2936052 | - |
p.Lys605Arg |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2603048 | CNV | deletion | 19546169 |
Residual Variation Intolerance Score:
92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.87;
79.43% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MIA3 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIA3 Gene
Disorders for MIA3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alcoholic neuropathy |
|
|
| melanoma |
|
|
| craniolenticulosutural dysplasia |
|
|
| inflammatory and toxic neuropathy |
|
|
Search MIA3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for MIA3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for MIA3 Gene
Publications for MIA3 Gene
- cTAGE5 mediates collagen secretion through interaction with TANGO1 at endoplasmic reticulum exit sites. (PMID: 21525241) Saito K … Katada T (Molecular biology of the cell 2011) 2 3 4
- Characterization and expression pattern of the novel MIA homolog TANGO. (PMID: 15183315) Bosserhoff AK … Buettner R (Gene expression patterns : GEP 2004) 2 3 4
- TANGO1 recruits Sec16 to coordinately organize ER exit sites for efficient secretion. (PMID: 28442536) Maeda M … Saito K (The Journal of cell biology 2017) 3 4
- TANGO1 and Mia2/cTAGE5 (TALI) cooperate to export bulky pre-chylomicrons/VLDLs from the endoplasmic reticulum. (PMID: 27138255) Santos AJ … Malhotra V (The Journal of cell biology 2016) 3 4
- TANGO1/cTAGE5 receptor as a polyvalent template for assembly of large COPII coats. (PMID: 27551091) Ma W … Goldberg J (Proceedings of the National Academy of Sciences of the United States of America 2016) 3 4
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