ENSG00000169344


Homo sapiens

Features
Gene ID: ENSG00000169344
  
Biological name :UMOD
  
Synonyms : P07911 / UMOD / uromodulin
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p12.3
Gene start: 20333052
Gene end: 20356301
  
Corresponding Affymetrix probe sets: 206716_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000461641
Ensembl peptide - ENSP00000460845
Ensembl peptide - ENSP00000461120
Ensembl peptide - ENSP00000306279
Ensembl peptide - ENSP00000379438
Ensembl peptide - ENSP00000379442
Ensembl peptide - ENSP00000458695
Ensembl peptide - ENSP00000458939
Ensembl peptide - ENSP00000459724
Ensembl peptide - ENSP00000459738
Ensembl peptide - ENSP00000460374
Ensembl peptide - ENSP00000460548
NCBI entrez gene - 7369     See in Manteia.
OMIM - 191845
RefSeq - XM_017023641
RefSeq - NM_001008389
RefSeq - NM_001278614
RefSeq - NM_003361
RefSeq - XM_011545934
RefSeq - XM_011545935
RefSeq - XM_011545936
RefSeq - XM_011545937
RefSeq - XM_011545938
RefSeq - XM_011545940
RefSeq Peptide - NP_001008390
RefSeq Peptide - NP_001265543
RefSeq Peptide - NP_003352
swissprot - P07911
swissprot - I3L2J2
swissprot - I3L2K2
swissprot - I3L3E0
swissprot - I3L3Z4
swissprot - I3L4B0
swissprot - I3L4Y6
swissprot - Q8NHW8
swissprot - X6RBG4
swissprot - I3L1M3
Ensembl - ENSG00000169344
  
Related genetic diseases (OMIM): 162000 - Hyperuricemic nephropathy, familial juvenile 1, 162000
  603860 - Medullary cystic kidney disease 2, 603860
  609886 - Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886
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
 si:ch211-226h7.3ENSDARG00000109626Danio rerio
 si:ch211-226h7.5ENSDARG00000074150Danio rerio
 si:ch211-226h7.6ENSDARG00000076196Danio rerio
 si:ch211-226h7.8ENSDARG00000095409Danio rerio
 si:ch73-180n10.1ENSDARG00000088794Danio rerio
 si:ch73-181m17.1ENSDARG00000097080Danio rerio
 si:ch73-338o16.4ENSDARG00000115257Danio rerio
 si:ch73-338o16.4ENSDARG00000092778Danio rerio
 si:dkey-239b22.2ENSDARG00000097826Danio rerio
 si:dkey-9l20.3ENSDARG00000105341Danio rerio
 umodENSDARG00000086117Danio rerio
 zgc:153932ENSDARG00000052779Danio rerio
 zgc:153932ENSDARG00000113315Danio rerio
 UmodENSMUSG00000030963Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GP2 / P55259 / glycoprotein 2ENSG0000016934740
Q5DID0 / UMODL1 / uromodulin like 1ENSG0000017739824
OIT3 / Q8WWZ8 / oncoprotein induced transcript 3ENSG0000013831521


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001507  Zona pellucida domain
 IPR001881  EGF-like calcium-binding domain
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR013032  EGF-like, conserved site
 IPR017977  Zona pellucida domain, conserved site
 IPR018097  EGF-like calcium-binding, conserved site
 IPR024731  EGF domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006968 cellular defense response TAS
 biological_processGO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IDA
 biological_processGO:0007159 leukocyte cell-cell adhesion IDA
 biological_processGO:0007588 excretion IEA
 biological_processGO:0008285 negative regulation of cell proliferation TAS
 biological_processGO:0018279 protein N-linked glycosylation via asparagine TAS
 biological_processGO:0048878 chemical homeostasis IEA
 biological_processGO:0072218 metanephric ascending thin limb development IEA
 biological_processGO:0072221 metanephric distal convoluted tubule development IEA
 biological_processGO:0072233 metanephric thick ascending limb development IEA
 biological_processGO:1990266 neutrophil migration IDA
 cellular_componentGO:0000922 spindle pole IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005796 Golgi lumen TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0019898 extrinsic component of membrane TAS
 cellular_componentGO:0031225 anchored component of membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0060170 ciliary membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0019864 IgG binding IDA


Pathways (from Reactome)
Pathway description
Asparagine N-linked glycosylation


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]
Show

 HP:0000083 Renal failure 
Show

 HP:0000091 Abnormality of the renal tubules 
Show

 HP:0000092 Tubular atrophy 
Show

 HP:0000112 Nephropathy "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators]
Show

 HP:0001997 Gout 
Show

 HP:0002149 Hyperuricemia "An abnormally high level of uric acid in the blood." [HPO:curators]
Show

 HP:0003621 Juvenile onset 
Show

 HP:0003676 Progressive disorder 
Show

 HP:0008659 Multiple small medullary renal cysts 
Show

 HP:0100611 Hypoplastic glomerulocystic kidney disease 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000167080 Q8NHY0 / B4GALNT2 / beta-1,4-N-acetyl-galactosaminyltransferase 2  / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr