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MIP (major intrinsic protein of lens fiber)

Identity

Alias (NCBI)AQP0
CTRCT15
LIM1
MIP26
MP26
HGNC (Hugo) MIP
HGNC Alias symbMP26
LIM1
AQP0
LocusID (NCBI) 4284
Atlas_Id 68994
Location 12q13.3  [Link to chromosome band 12q13]
Location_base_pair Starts at 56449502 and ends at 56454657 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PAN2 (12q13.3)::MIP (12q13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)MIP   7103
Cards
Entrez_Gene (NCBI)MIP    major intrinsic protein of lens fiber
AliasesAQP0; CTRCT15; LIM1; MIP26; 
MP26
GeneCards (Weizmann)MIP
Ensembl hg19 (Hinxton)ENSG00000135517 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135517 [Gene_View]  ENSG00000135517 [Sequence]  chr12:56449502-56454657 [Contig_View]  MIP [Vega]
ICGC DataPortalENSG00000135517
TCGA cBioPortalMIP
AceView (NCBI)MIP
Genatlas (Paris)MIP
SOURCE (Princeton)MIP
Genetics Home Reference (NIH)MIP
Genomic and cartography
GoldenPath hg38 (UCSC)MIP  -     chr12:56449502-56454657 -  12q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MIP  -     12q13.3   [Description]    (hg19-Feb_2009)
GoldenPathMIP - 12q13.3 [CytoView hg19]  MIP - 12q13.3 [CytoView hg38]
ImmunoBaseENSG00000135517
Genome Data Viewer NCBIMIP [Mapview hg19]  
OMIM154050   615274   
Gene and transcription
Genbank (Entrez)AK307357 BC074913 BC117474 BM696300 BM705396
RefSeq transcript (Entrez)NM_012064
Consensus coding sequences : CCDS (NCBI)MIP
Gene ExpressionMIP [ NCBI-GEO ]   MIP [ EBI - ARRAY_EXPRESS ]   MIP [ SEEK ]   MIP [ MEM ]
Gene Expression Viewer (FireBrowse)MIP [ Firebrowse - Broad ]
GenevisibleExpression of MIP in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4284
GTEX Portal (Tissue expression)MIP
Human Protein AtlasENSG00000135517-MIP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP30301   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP30301  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP30301
PhosPhoSitePlusP30301
Domaine pattern : Prosite (Expaxy)MIP (PS00221)   
Domains : Interpro (EBI)Aquaporin-like    Aquaporin_transptr    MIP    MIP_CS   
Domain families : Pfam (Sanger)MIP (PF00230)   
Domain families : Pfam (NCBI)pfam00230   
Conserved Domain (NCBI)MIP
SuperfamilyP30301
AlphaFold pdb e-kbP30301   
Human Protein Atlas [tissue]ENSG00000135517-MIP [tissue]
HPRD01098
Protein Interaction databases
DIP (DOE-UCLA)P30301
IntAct (EBI)P30301
BioGRIDMIP
STRING (EMBL)MIP
ZODIACMIP
Ontologies - Pathways
QuickGOP30301
Ontology : AmiGOstructural constituent of eye lens  protein binding  calmodulin binding  endoplasmic reticulum  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  gap junction  water transport  water transport  water transport  visual perception  water channel activity  water channel activity  water channel activity  integral component of membrane  apical plasma membrane  positive regulation of cell adhesion  response to stimulus  protein homotetramerization  transmembrane transport  gap junction-mediated intercellular transport  
Ontology : EGO-EBIstructural constituent of eye lens  protein binding  calmodulin binding  endoplasmic reticulum  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  gap junction  water transport  water transport  water transport  visual perception  water channel activity  water channel activity  water channel activity  integral component of membrane  apical plasma membrane  positive regulation of cell adhesion  response to stimulus  protein homotetramerization  transmembrane transport  gap junction-mediated intercellular transport  
NDEx NetworkMIP
Atlas of Cancer Signalling NetworkMIP
Wikipedia pathwaysMIP
Orthology - Evolution
OrthoDB4284
GeneTree (enSembl)ENSG00000135517
Phylogenetic Trees/Animal Genes : TreeFamMIP
Homologs : HomoloGeneMIP
Homology/Alignments : Family Browser (UCSC)MIP
Gene fusions - Rearrangements
Fusion : QuiverMIP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMIP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MIP
dbVarMIP
ClinVarMIP
MonarchMIP
1000_GenomesMIP 
Exome Variant ServerMIP
GNOMAD BrowserENSG00000135517
Varsome BrowserMIP
ACMGMIP variants
VarityP30301
Genomic Variants (DGV)MIP [DGVbeta]
DECIPHERMIP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMIP 
Mutations
ICGC Data PortalMIP 
TCGA Data PortalMIP 
Broad Tumor PortalMIP
OASIS PortalMIP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMIP  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMIP
Mutations and Diseases : HGMDMIP
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMIP
DgiDB (Drug Gene Interaction Database)MIP
DoCM (Curated mutations)MIP
CIViC (Clinical Interpretations of Variants in Cancer)MIP
Cancer3DMIP
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM154050    615274   
Orphanet23423    14006    14002    14008    14011    14010   
DisGeNETMIP
MedgenMIP
Genetic Testing Registry MIP
NextProtP30301 [Medical]
GENETestsMIP
Target ValidationMIP
Huge Navigator MIP [HugePedia]
ClinGenMIP
Clinical trials, drugs, therapy
MyCancerGenomeMIP
Protein Interactions : CTDMIP
Pharm GKB GenePA30821
PharosP30301
Clinical trialMIP
Miscellaneous
canSAR (ICR)MIP
HarmonizomeMIP
ARCHS4MIP
DataMed IndexMIP
Probes
Litterature
PubMed89 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMIP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 13:37:00 CET 2022

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