MIA (MIA SH3 domain containing)

Gene Gene information from NCBI Gene database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 8190
Gene name MIA SH3 domain containing
Gene symbol MIA
Synonyms (NCBI Gene)
CD-RAPMIA1
Chromosome 19
Chromosome location 19q13.2
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
Transcription factor Regulation Reference
NONO Unknown 23672612;24349210
SOX10 Activation 12783851;24608986
SOX9 Activation 12783851
YBX1 Unknown 23672612
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space TAS 7923218
GO:0007165 Process Signal transduction IEA
GO:0008083 Function Growth factor activity IEA
GO:0030198 Process Extracellular matrix organization IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601340 7076 ENSG00000261857
Protein Protein information from UniProt database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16674
Protein name Melanoma-derived growth regulatory protein (Melanoma inhibitory activity protein)
Protein function Elicits growth inhibition on melanoma cells in vitro as well as some other neuroectodermal tumors, including gliomas.
PDB 1HJD , 1I1J , 1K0X , 5IXB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07653 SH3_2 47 → 111 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: All malignant melanoma cell lines tested and infrequently in glioma cell lines.
Sequence 
MARSLVCLGVIILLSAFSGPGVRGGPMPKLADRKLCADQECSHPISMAVALQDYMAPDCR
FLTIHRGQVVYVFSKLKGRGRLFWGGSVQGDYYGDLAARLGYFPSSIVREDQTLKPGKVD
VKTDKWDFYCQ
Sequence length 131
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MIA-related disorder Benign; Likely benign rs151087599, rs1016428102, rs1405728619 RCV003921872
RCV003921815
RCV003969333
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 28306719
Cognition Disorders Associate 35593028
Colorectal Neoplasms Associate 28306719
Melanoma Associate 12230496, 18382126
Neoplasms Associate 1317941
Pancreatic Neoplasms Associate 20514540
Parkinson Disease Associate 35593028
Polyps Associate 28306719
Prostatic Neoplasms Associate 31819067
Pulmonary Disease Chronic Obstructive Associate 23936167