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UMOD (uromodulin)

Identity

Alias (NCBI)ADMCKD2
ADTKD1
FJHN
HNFJ
HNFJ1
MCKD2
THGP
THP
HGNC (Hugo) UMOD
HGNC Alias nameTamm-Horsfall glycoprotein
 uromucoid
HGNC Previous nameuromodulin (uromucoid, Tamm-Horsfall glycoprotein)
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    uromodulin
AliasesADMCKD2; ADTKD1; FJHN; HNFJ; 
HNFJ1; MCKD2; THGP; THP
GeneCards (Weizmann)UMOD
Ensembl hg19 (Hinxton)ENSG00000169344 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169344 [Gene_View]  ENSG00000169344 [Sequence]  chr16:20333051-20352878 [Contig_View]  UMOD [Vega]
ICGC DataPortalENSG00000169344
TCGA cBioPortalUMOD
AceView (NCBI)UMOD
Genatlas (Paris)UMOD
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)
GoldenPathUMOD - 16p12.3 [CytoView hg19]  UMOD - 16p12.3 [CytoView hg38]
ImmunoBaseENSG00000169344
Genome Data Viewer NCBIUMOD [Mapview hg19]  
OMIM162000   191845   
Gene and transcription
Genbank (Entrez)AK055722 AK091961 AK096043 AK127643 AK127648
RefSeq transcript (Entrez)NM_001008389 NM_001278614 NM_001378232 NM_001378233 NM_001378234 NM_001378235 NM_001378237 NM_003361
Consensus coding sequences : CCDS (NCBI)UMOD
Gene ExpressionUMOD [ NCBI-GEO ]   UMOD [ EBI - ARRAY_EXPRESS ]   UMOD [ SEEK ]   UMOD [ MEM ]
Gene Expression Viewer (FireBrowse)UMOD [ Firebrowse - Broad ]
GenevisibleExpression of UMOD 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
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_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    EGF_dom    Growth_fac_rcpt_cys_sf    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
PDB (RSDB)4WRN    6TQK    6TQL    6ZS5    6ZYA   
PDB Europe4WRN    6TQK    6TQL    6ZS5    6ZYA   
PDB (PDBSum)4WRN    6TQK    6TQL    6ZS5    6ZYA   
PDB (IMB)4WRN    6TQK    6TQL    6ZS5    6ZYA   
Structural Biology KnowledgeBase4WRN    6TQK    6TQL    6ZS5    6ZYA   
SCOP (Structural Classification of Proteins)4WRN    6TQK    6TQL    6ZS5    6ZYA   
CATH (Classification of proteins structures)4WRN    6TQK    6TQL    6ZS5    6ZYA   
SuperfamilyP07911
AlphaFold pdb e-kbP07911   
Human Protein Atlas [tissue]ENSG00000169344-UMOD [tissue]
HPRD11771
Protein Interaction databases
DIP (DOE-UCLA)P07911
IntAct (EBI)P07911
BioGRIDUMOD
STRING (EMBL)UMOD
ZODIACUMOD
Ontologies - Pathways
QuickGOP07911
Ontology : AmiGOspindle pole  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular space  Golgi lumen  cilium  cellular defense response  heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules  leukocyte cell-cell adhesion  negative regulation of cell population proliferation  cell surface  basolateral plasma membrane  apical plasma membrane  apical plasma membrane  IgG binding  extrinsic component of membrane  anchored component of membrane  ciliary membrane  extracellular exosome  neutrophil migration  neutrophil migration  
Ontology : EGO-EBIspindle pole  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular space  Golgi lumen  cilium  cellular defense response  heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules  leukocyte cell-cell adhesion  negative regulation of cell population proliferation  cell surface  basolateral plasma membrane  apical plasma membrane  apical plasma membrane  IgG binding  extrinsic component of membrane  anchored component of membrane  ciliary membrane  extracellular exosome  neutrophil migration  neutrophil migration  
NDEx NetworkUMOD
Atlas of Cancer Signalling NetworkUMOD
Wikipedia pathwaysUMOD
Orthology - Evolution
OrthoDB7369
GeneTree (enSembl)ENSG00000169344
Phylogenetic Trees/Animal Genes : TreeFamUMOD
Homologs : HomoloGeneUMOD
Homology/Alignments : Family Browser (UCSC)UMOD
Gene fusions - Rearrangements
Fusion : MitelmanLMF1/UMOD [16p13.3/16p12.3]  
Fusion : QuiverUMOD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUMOD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UMOD
dbVarUMOD
ClinVarUMOD
MonarchUMOD
1000_GenomesUMOD 
Exome Variant ServerUMOD
GNOMAD BrowserENSG00000169344
Varsome BrowserUMOD
ACMGUMOD variants
VarityP07911
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]  
Somatic Mutations in Cancer : COSMIC3DUMOD
Mutations and Diseases : HGMDUMOD
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaUMOD
DgiDB (Drug Gene Interaction Database)UMOD
DoCM (Curated mutations)UMOD
CIViC (Clinical Interpretations of Variants in Cancer)UMOD
Cancer3DUMOD
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM162000    191845   
Orphanet18663    11882   
DisGeNETUMOD
MedgenUMOD
Genetic Testing Registry UMOD
NextProtP07911 [Medical]
GENETestsUMOD
Target ValidationUMOD
Huge Navigator UMOD [HugePedia]
ClinGenUMOD
Clinical trials, drugs, therapy
MyCancerGenomeUMOD
Protein Interactions : CTDUMOD
Pharm GKB GenePA37199
PharosP07911
Clinical trialUMOD
Miscellaneous
canSAR (ICR)UMOD
HarmonizomeUMOD
DataMed IndexUMOD
Probes
Litterature
PubMed169 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXUMOD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:37:26 CEST 2021

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