MIA (MIA SH3 domain containing)

Gene
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8190
Gene name Gene Name - the full gene name approved by the HGNC.
MIA SH3 domain containing
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MIA
Synonyms (NCBI Gene) Gene synonyms aliases
CD-RAP, MIA1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
Transcription factors
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 information of associated ontologies with gene provided by GO database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601340 7076 ENSG00000261857
Protein
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Plasma letrozole concentrations in letrozole treated hormone-receptor-positive breast cancer N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease 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