ENSG00000197081


Homo sapiens

Features
Gene ID: ENSG00000197081
  
Biological name :IGF2R
  
Synonyms : IGF2R / insulin like growth factor 2 receptor / P11717
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q25.3
Gene start: 159969099
Gene end: 160113507
  
Corresponding Affymetrix probe sets: 1569052_at (Human Genome U133 Plus 2.0 Array)   201392_s_at (Human Genome U133 Plus 2.0 Array)   201393_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000349437
Ensembl peptide - ENSP00000473880
NCBI entrez gene - 3482     See in Manteia.
OMIM - 147280
RefSeq - NM_000876
RefSeq Peptide - NP_000867
swissprot - P11717
swissprot - S4R328
Ensembl - ENSG00000197081
  
Related genetic diseases (OMIM): 114550 - Hepatocellular carcinoma, somatic, 114550
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 igf2rENSDARG00000006094Danio rerio
 IGF2RENSGALG00000011621Gallus gallus
 Igf2rENSMUSG00000023830Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000479  Cation-independent mannose-6-phosphate receptor
 IPR000562  Fibronectin type II domain
 IPR009011  Mannose-6-phosphate receptor binding domain superfamily
 IPR013806  Kringle-like fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001889 liver development IEA
 biological_processGO:0006898 receptor-mediated endocytosis TAS
 biological_processGO:0007041 lysosomal transport IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0009791 post-embryonic development IEA
 biological_processGO:0031100 animal organ regeneration IEA
 biological_processGO:0032526 response to retinoic acid IEA
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0048009 insulin-like growth factor receptor signaling pathway IEA
 biological_processGO:0061024 membrane organization TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005641 nuclear envelope lumen IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IMP
 cellular_componentGO:0005770 late endosome IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005802 trans-Golgi network IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030118 clathrin coat IEA
 cellular_componentGO:0030133 transport vesicle TAS
 cellular_componentGO:0030139 endocytic vesicle IDA
 cellular_componentGO:0030140 trans-Golgi network transport vesicle IDA
 cellular_componentGO:0030665 clathrin-coated vesicle membrane TAS
 cellular_componentGO:0030667 secretory granule membrane TAS
 cellular_componentGO:0032588 trans-Golgi network membrane TAS
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0001965 G-protein alpha-subunit binding IEA
 molecular_functionGO:0001972 retinoic acid binding IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity IEA
 molecular_functionGO:0005010 insulin-like growth factor-activated receptor activity TAS
 molecular_functionGO:0005515 protein binding IDA
 molecular_functionGO:0005520 insulin-like growth factor binding IEA
 molecular_functionGO:0005537 mannose binding IEA
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0031995 insulin-like growth factor II binding IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0051219 phosphoprotein binding IEA


Pathways (from Reactome)
Pathway description
Golgi Associated Vesicle Biogenesis
Neutrophil degranulation
Retrograde transport at the Trans-Golgi-Network
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0001413 Micronodular cirrhosis 
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 HP:0001425 Heterogeneous 
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 HP:0001428 Somatic mutation 
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 HP:0006572 Subacute progressive viral hepatitis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000104915 STX10 / O60499 / syntaxin 10  / reaction
 ENSG00000124222 STX16 / O14662 / syntaxin 16  / reaction
 ENSG00000135968 GCC2 / Q8IWJ2 / GRIP and coiled-coil domain containing 2  / reaction
 ENSG00000223501 VPS52 / Q8N1B4 / VPS52, GARP complex subunit  / reaction
 ENSG00000141252 VPS53 / Q5VIR6 / VPS53, GARP complex subunit  / reaction
 ENSG00000123595 RAB9A / P51151 / RAB9A, member RAS oncogene family  / complex
 ENSG00000149823 VPS51 / Q9UID3 / VPS51, GARP complex subunit  / reaction
 ENSG00000049245 VAMP3 / Q15836 / vesicle associated membrane protein 3  / complex
 ENSG00000143952 VPS54 / Q9P1Q0 / VPS54, GARP complex subunit  / reaction
 ENSG00000136933 Q7Z6M1 / RABEPK / Rab9 effector protein with kelch motifs  / complex
 ENSG00000151532 VTI1A / Q96AJ9 / vesicle transport through interaction with t-SNAREs 1A  / reaction






 

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