Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

UMOD (uromodulin)

Identity

Alias_namesuromodulin (uromucoid
Other aliasADMCKD2
FJHN
HNFJ
HNFJ1
MCKD2
THGP
THP
HGNC (Hugo) UMOD
LocusID (NCBI) 7369
Atlas_Id 54753
Location 16p12.3  [Link to chromosome band 16p12]
Location_base_pair Starts at 20333051 and ends at 20352878 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)
LMF1 (16p13.3) / UMOD (16p12.3)

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)UMOD   12559
Cards
Entrez_Gene (NCBI)UMOD  7369  uromodulin
AliasesADMCKD2; FJHN; HNFJ; HNFJ1; 
MCKD2; THGP; THP
GeneCards (Weizmann)UMOD
Ensembl hg19 (Hinxton)ENSG00000169344 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169344 [Gene_View]  chr16:20333051-20352878 [Contig_View]  UMOD [Vega]
ICGC DataPortalENSG00000169344
TCGA cBioPortalUMOD
AceView (NCBI)UMOD
Genatlas (Paris)UMOD
WikiGenes7369
SOURCE (Princeton)UMOD
Genetics Home Reference (NIH)UMOD
Genomic and cartography
GoldenPath hg38 (UCSC)UMOD  -     chr16:20333051-20352878 -  16p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UMOD  -     16p12.3   [Description]    (hg19-Feb_2009)
EnsemblUMOD - 16p12.3 [CytoView hg19]  UMOD - 16p12.3 [CytoView hg38]
Mapping of homologs : NCBIUMOD [Mapview hg19]  UMOD [Mapview hg38]
OMIM162000   191845   603860   609886   
Gene and transcription
Genbank (Entrez)AK055722 AK091961 AK096043 AK127643 AK127648
RefSeq transcript (Entrez)NM_001008389 NM_001278614 NM_003361
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UMOD
Cluster EST : UnigeneHs.654425 [ NCBI ]
CGAP (NCI)Hs.654425
Alternative Splicing GalleryENSG00000169344
Gene ExpressionUMOD [ NCBI-GEO ]   UMOD [ EBI - ARRAY_EXPRESS ]   UMOD [ SEEK ]   UMOD [ MEM ]
Gene Expression Viewer (FireBrowse)UMOD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7369
GTEX Portal (Tissue expression)UMOD
Human Protein AtlasENSG00000169344-UMOD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07911   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07911  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07911
Splice isoforms : SwissVarP07911
PhosPhoSitePlusP07911
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    ZP_1 (PS00682)    ZP_2 (PS51034)   
Domains : Interpro (EBI)EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    EGF_dom    GFP-like    Growth_fac_rcpt_    ZP_dom    ZP_dom_CS   
Domain families : Pfam (Sanger)EGF_3 (PF12947)    EGF_CA (PF07645)    Zona_pellucida (PF00100)   
Domain families : Pfam (NCBI)pfam12947    pfam07645    pfam00100   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  ZP (SM00241)  
Conserved Domain (NCBI)UMOD
DMDM Disease mutations7369
Blocks (Seattle)UMOD
PDB (SRS)4WRN   
PDB (PDBSum)4WRN   
PDB (IMB)4WRN   
PDB (RSDB)4WRN   
Structural Biology KnowledgeBase4WRN   
SCOP (Structural Classification of Proteins)4WRN   
CATH (Classification of proteins structures)4WRN   
SuperfamilyP07911
Human Protein Atlas [tissue]ENSG00000169344-UMOD [tissue]
Peptide AtlasP07911
HPRD11771
IPIIPI00013945   IPI01013836   IPI00744076   IPI00902653   IPI00902579   IPI00640271   
Protein Interaction databases
DIP (DOE-UCLA)P07911
IntAct (EBI)P07911
FunCoupENSG00000169344
BioGRIDUMOD
STRING (EMBL)UMOD
ZODIACUMOD
Ontologies - Pathways
QuickGOP07911
Ontology : AmiGOspindle pole  calcium ion binding  Golgi lumen  cilium  cellular defense response  heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules  leukocyte cell-cell adhesion  excretion  negative regulation of cell proliferation  basolateral plasma membrane  apical plasma membrane  protein N-linked glycosylation via asparagine  IgG binding  extrinsic component of membrane  anchored component of membrane  chemical homeostasis  ciliary membrane  extracellular exosome  metanephric ascending thin limb development  metanephric distal convoluted tubule development  metanephric thick ascending limb development  neutrophil migration  regulation of ion homeostasis  
Ontology : EGO-EBIspindle pole  calcium ion binding  Golgi lumen  cilium  cellular defense response  heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules  leukocyte cell-cell adhesion  excretion  negative regulation of cell proliferation  basolateral plasma membrane  apical plasma membrane  protein N-linked glycosylation via asparagine  IgG binding  extrinsic component of membrane  anchored component of membrane  chemical homeostasis  ciliary membrane  extracellular exosome  metanephric ascending thin limb development  metanephric distal convoluted tubule development  metanephric thick ascending limb development  neutrophil migration  regulation of ion homeostasis  
NDEx NetworkUMOD
Atlas of Cancer Signalling NetworkUMOD
Wikipedia pathwaysUMOD
Orthology - Evolution
OrthoDB7369
GeneTree (enSembl)ENSG00000169344
Phylogenetic Trees/Animal Genes : TreeFamUMOD
HOVERGENP07911
HOGENOMP07911
Homologs : HomoloGeneUMOD
Homology/Alignments : Family Browser (UCSC)UMOD
Gene fusions - Rearrangements
Fusion : MitelmanLMF1/UMOD [16p13.3/16p12.3]  [t(16;16)(p12;p13)]  
Tumor Fusion PortalUMOD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUMOD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UMOD
dbVarUMOD
ClinVarUMOD
1000_GenomesUMOD 
Exome Variant ServerUMOD
ExAC (Exome Aggregation Consortium)ENSG00000169344
GNOMAD BrowserENSG00000169344
Genetic variants : HAPMAP7369
Genomic Variants (DGV)UMOD [DGVbeta]
DECIPHERUMOD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUMOD 
Mutations
ICGC Data PortalUMOD 
TCGA Data PortalUMOD 
Broad Tumor PortalUMOD
OASIS PortalUMOD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUMOD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUMOD
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch UMOD
DgiDB (Drug Gene Interaction Database)UMOD
DoCM (Curated mutations)UMOD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UMOD (select a term)
intoGenUMOD
Cancer3DUMOD(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM162000    191845    603860    609886   
Orphanet18663    11882   
DisGeNETUMOD
MedgenUMOD
Genetic Testing Registry UMOD
NextProtP07911 [Medical]
TSGene7369
GENETestsUMOD
Target ValidationUMOD
Huge Navigator UMOD [HugePedia]
snp3D : Map Gene to Disease7369
BioCentury BCIQUMOD
ClinGenUMOD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7369
Chemical/Pharm GKB GenePA37199
Clinical trialUMOD
Miscellaneous
canSAR (ICR)UMOD (select the gene name)
Probes
Litterature
PubMed130 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUMOD
EVEXUMOD
GoPubMedUMOD
iHOPUMOD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:40:50 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.