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Aliases for UROD Gene

Aliases for UROD Gene

  • Uroporphyrinogen Decarboxylase 2 3 4 5
  • EC 4.1.1.37 4 56
  • UPD 3 4
  • Uroporphyrinogen III Decarboxylase 3
  • URO-D 4
  • PCT 3

External Ids for UROD Gene

Previous GeneCards Identifiers for UROD Gene

  • GC01P045205
  • GC01P044478
  • GC01P044907
  • GC01P044891
  • GC01P045147
  • GC01P045250
  • GC01P045477
  • GC01P043589

Summaries for UROD Gene

Entrez Gene Summary for UROD Gene

  • This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]

GeneCards Summary for UROD Gene

UROD (Uroporphyrinogen Decarboxylase) is a Protein Coding gene. Diseases associated with UROD include Porphyria Cutanea Tarda and Familial Porphyria Cutanea Tarda. Among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include uroporphyrinogen decarboxylase activity. An important paralog of this gene is MTR.

UniProtKB/Swiss-Prot for UROD Gene

  • Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.

Gene Wiki entry for UROD Gene

Additional gene information for UROD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UROD Gene

Genomics for UROD Gene

GeneHancer (GH) Regulatory Elements for UROD Gene

Promoters and enhancers for UROD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J045009 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 634.6 +1.4 1437 5.4 ZFX SP1 ELF3 CC2D1A CTCF MNT SIX5 CBFA2T2 ZNF148 NKRF UROD HECTD3 TOE1 MUTYH RPS15AP10 NASP GPBP1L1 BEST4 BTBD19 TMEM69
GH01J044985 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13 -24.6 -24649 2.2 CC2D1A SP1 ZFX ELF3 MNT NKRF POLR2A MLLT1 ZNF121 ZNF687 EIF2B3 TOE1 GPBP1L1 MUTYH ENSG00000234329 RPS8 RPS15AP10 HECTD3 DMAP1 UROD
GH01J045037 Enhancer 0.8 Ensembl 30.2 +27.0 26951 0.6 CBFA2T2 TRIM24 ZNF639 SMARCA4 DPF2 IKZF1 PRDM10 ZNF512 PKNOX1 LEF1 UROD DMAP1 GC01M045023 OSTCP5 ZSWIM5
GH01J044739 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.7 -271.2 -271249 3 ZFX ZNF652 SP1 CC2D1A ELF3 NKRF POLR2A GTF2F1 CSDE1 ZNF687 KIF2C PIR60865 GPBP1L1 TOE1 ENSG00000234329 HECTD3 RPS15AP10 TMEM69 UROD DPH2
GH01J044805 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 12.6 -200.5 -200499 10.7 CC2D1A SP1 ZFX ELF3 ZKSCAN8 MNT ZNF148 NKRF MLLT1 ZNF121 TOE1 GPBP1L1 RPS8 HECTD3 MUTYH ENSG00000234329 RPS15AP10 ENSG00000225721 UROD BEST4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UROD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UROD gene promoter:
  • AhR
  • AP-4
  • Arnt
  • CUTL1
  • E47
  • FOXD3
  • Nkx2-5
  • Pbx1a
  • Tal-1beta
  • USF-1

Genomic Locations for UROD Gene

Genomic Locations for UROD Gene
chr1:45,010,950-45,015,669
(GRCh38/hg38)
Size:
4,720 bases
Orientation:
Plus strand
chr1:45,477,805-45,481,341
(GRCh37/hg19)
Size:
3,537 bases
Orientation:
Plus strand

Genomic View for UROD Gene

Genes around UROD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UROD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UROD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UROD Gene

Proteins for UROD Gene

  • Protein details for UROD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06132-DCUP_HUMAN
    Recommended name:
    Uroporphyrinogen decarboxylase
    Protein Accession:
    P06132
    Secondary Accessions:
    • A8K762
    • Q16863
    • Q16883
    • Q53YB8
    • Q53ZP6
    • Q6IB28
    • Q9BUZ0

    Protein attributes for UROD Gene

    Size:
    367 amino acids
    Molecular mass:
    40787 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for UROD Gene

neXtProt entry for UROD Gene

Selected DME Specific Peptides for UROD Gene

P06132:
  • VGKTVTLQG
  • MRQAGRYLPE
  • DAAIIFSDILV
  • AGAQALQ
  • TLQPLRR
  • GAPWTLM
  • NDTFLRA
  • QVVAGAQ
  • RVPLIGF
  • PLIGFAG
  • LDPCALYASEEEIG
  • IANLGHG
  • LIGFAGAP
  • DLERLRDP

Post-translational modifications for UROD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for UROD Gene

Gene Families for UROD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for UROD Gene

GenScript: Design optimal peptide antigens:
  • Uroporphyrinogen decarboxylase (DCUP_HUMAN)
  • Uroporphyrinogen decarboxylase (Q53ZP6_HUMAN)
  • Uroporphyrinogen decarboxylase (Q5T446_HUMAN)
  • Uroporphyrinogen decarboxylase (Q5T450_HUMAN)
  • Uroporphyrinogen decarboxylase (Q71UD4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P06132

UniProtKB/Swiss-Prot:

DCUP_HUMAN :
  • Belongs to the uroporphyrinogen decarboxylase family.
Family:
  • Belongs to the uroporphyrinogen decarboxylase family.
genes like me logo Genes that share domains with UROD: view

Function for UROD Gene

Molecular function for UROD Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4 H(+) + uroporphyrinogen III = 4 CO2 + coproporphyrinogen III; Xref=Rhea:RHEA:19865, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57308, ChEBI:CHEBI:57309; EC=4.1.1.37;.
GENATLAS Biochemistry:
uroporphyrinogen decarboxylase,cytosolic,catalyzing coproporphyrinogen IX formation,fifth step of porphyrin synthesis

Enzyme Numbers (IUBMB) for UROD Gene

Phenotypes From GWAS Catalog for UROD Gene

Gene Ontology (GO) - Molecular Function for UROD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004853 uroporphyrinogen decarboxylase activity IDA 18004775
GO:0005515 protein binding IPI 25416956
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity IEA --
genes like me logo Genes that share ontologies with UROD: view
genes like me logo Genes that share phenotypes with UROD: view

Human Phenotype Ontology for UROD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UROD Gene

MGI Knock Outs for UROD:
  • Urod Urod<tm1Kush>

Animal Model Products

CRISPR Products

miRNA for UROD Gene

miRTarBase miRNAs that target UROD

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UROD

Clone Products

  • Applied Biological Materials (abm): Clones for UROD - Now 50% OFF >
  • * UROD as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * UROD tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Transcription Factor Targets and HOMER Transcription for UROD Gene

Localization for UROD Gene

Subcellular locations from UniProtKB/Swiss-Prot for UROD Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UROD gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1
lysosome 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UROD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IEA --
genes like me logo Genes that share ontologies with UROD: view

Pathways & Interactions for UROD Gene

genes like me logo Genes that share pathways with UROD: view

Pathways by source for UROD Gene

1 BioSystems pathway for UROD Gene
3 Reactome pathways for UROD Gene

UniProtKB/Swiss-Prot P06132-DCUP_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 4/4.

Gene Ontology (GO) - Biological Process for UROD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process TAS --
GO:0042168 heme metabolic process IEA --
genes like me logo Genes that share ontologies with UROD: view

No data available for SIGNOR curated interactions for UROD Gene

Drugs & Compounds for UROD Gene

(18) Drugs for UROD Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1426
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Coproporphyrinogen III Experimental Pharma Target 0
Coproporphyrin I Experimental Pharma Target 0
heme Pharma Agonist 0

(25) Additional Compounds for UROD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uroporphyrinogen I
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropionic acid
  • Uro'gen I
  • Uroporphyrinogen-I
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropionate
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-(8ci)-2,7,12,17-porphinetetrapropionate
1867-62-5
Coproporphyrin III
  • 3,8,13,17-Tetramethylporphyrin-2,7,12,18-tetrapropanoic acid
  • 3,8,13,17-Tetramethylporphyrin-2,7,12,18-tetrapropanoate
14643-66-4
Coproporphyrinogen I
  • 3,8,13,18-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropionic acid
  • COPROPORPHYRIN I
  • 3,8,13,18-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropionate
  • 3,8,13,18-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropanoate
  • 3,8,13,18-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropanoic acid
31110-56-2
Formyl-CoA
  • Formyl coenzyme A
  • Formyl-coenzyme A
13131-49-2
Heptacarboxylporphyrin I
  • Heptacarboxylic acid porphyrin I
  • Heptaporphyrin
65406-45-3
genes like me logo Genes that share compounds with UROD: view

Transcripts for UROD Gene

mRNA/cDNA for UROD Gene

(1) REFSEQ mRNAs :
(37) Additional mRNA sequences :
(702) Selected AceView cDNA sequences:
(27) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for UROD Gene

Uroporphyrinogen decarboxylase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UROD

Clone Products

  • Applied Biological Materials (abm): Clones for UROD - Now 50% OFF >
  • * UROD as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * UROD tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for UROD Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c ^ 6a · 6b · 6c ·
SP1: - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - -
SP6: - - - - - - -
SP7: - - - - -
SP8: - - - - - - - - -
SP9: - - - - -
SP10: - - -
SP11: - - -
SP12: - - - -
SP13: - - -
SP14:
SP15:
SP16: - - - - - - - -
SP17: - - - - -
SP18: - - -
SP19: - - -
SP20: - -
SP21: - - - - -
SP22: - - - -
SP23: - -
SP24: - - - -
SP25:
SP26: - - - - -
SP27:
SP28:
SP29:

ExUns: 6d · 6e ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c · 12d
SP1: - - -
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6: - - -
SP7:
SP8:
SP9: - -
SP10: -
SP11: -
SP12: - - - - -
SP13: - -
SP14: - - -
SP15: - - - - - - - -
SP16:
SP17:
SP18:
SP19: -
SP20: -
SP21:
SP22:
SP23:
SP24:
SP25: -
SP26:
SP27:
SP28: -
SP29: - -

Relevant External Links for UROD Gene

GeneLoc Exon Structure for
UROD
ECgene alternative splicing isoforms for
UROD

Expression for UROD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UROD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UROD Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.1) and Fetal Liver (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UROD Gene



Protein tissue co-expression partners for UROD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UROD Gene:

UROD

SOURCE GeneReport for Unigene cluster for UROD Gene:

Hs.78601

Evidence on tissue expression from TISSUES for UROD Gene

  • Nervous system(4.5)
  • Muscle(4.3)
  • Kidney(3.4)
  • Liver(3.4)
  • Lung(3.4)
  • Skin(3.4)
  • Blood(3)
  • Bone marrow(2.6)
  • Intestine(2.6)
  • Adrenal gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UROD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • face
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
Abdomen:
  • gallbladder
  • kidney
  • liver
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with UROD: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UROD Gene

Orthologs for UROD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UROD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UROD 35 34
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UROD 35 34
  • 91.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UROD 35 34
  • 91.28 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Urod 34
  • 89.1 (n)
mouse
(Mus musculus)
Mammalia Urod 17 35 34
  • 88.92 (n)
oppossum
(Monodelphis domestica)
Mammalia UROD 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves UROD 35 34
  • 71.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UROD 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia urod 34
  • 67.6 (n)
Str.10689 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15429 34
zebrafish
(Danio rerio)
Actinopterygii urod 35 34 34
  • 66.95 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3585 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011895 34
  • 58.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta Updo 35 36 34
  • 56.95 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL210C 34
  • 54.01 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM12 37 35 34
  • 53.52 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F11770g 34
  • 53.11 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons HEME2 34
  • 45.15 (n)
rice
(Oryza sativa)
Liliopsida Os03g0337600 34
  • 46.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8855 35
  • 58 (a)
OneToOne
Cin.14012 34
bread mold
(Neurospora crassa)
Ascomycetes NCU02771 34
  • 55.78 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem12 34
  • 53.99 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14012 34
Species where no ortholog for UROD was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UROD Gene

ENSEMBL:
Gene Tree for UROD (if available)
TreeFam:
Gene Tree for UROD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UROD: view image

Paralogs for UROD Gene

Paralogs for UROD Gene

genes like me logo Genes that share paralogs with UROD: view

Variants for UROD Gene

Sequence variations from dbSNP and Humsavar for UROD Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs116233118 Familial porphyria cutanea tarda (FPCT) [MIM:176100] 45,015,346(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1182234844 Familial porphyria cutanea tarda (FPCT) [MIM:176100] 45,013,742(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121918057 pathogenic, Hepatoerythropoietic porphyria, Porphyria cutanea tarda, Familial porphyria cutanea tarda, Familial porphyria cutanea tarda (FPCT) [MIM:176100], Hepatoerythropoietic porphyria (HEP) [MIM:176100], Familial porphyria cutanea tarda (FPCT) [MIM:176100] 45,014,803(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121918058 pathogenic, Hepatoerythropoietic porphyria, Familial porphyria cutanea tarda (FPCT) [MIM:176100], Hepatoerythropoietic porphyria (HEP) [MIM:176100] 45,013,933(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121918059 pathogenic, uncertain-significance, Hepatoerythropoietic porphyria, not specified, Hepatoerythropoietic porphyria (HEP) [MIM:176100] 45,014,835(+) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Variation tolerance for UROD Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UROD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UROD
Human Gene Mutation Database (HGMD)
UROD

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for UROD Gene

Disorders for UROD Gene

MalaCards: The human disease database

(25) MalaCards diseases for UROD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
porphyria cutanea tarda
  • pct
familial porphyria cutanea tarda
  • porphyria cutanea tarda
porphyria cutanea tarda, type i
  • pct, type i
porphyria
  • disorder of porphyrin and hem metabolism
cutaneous porphyria
  • erythropoietic porphyria
- elite association - COSMIC cancer census association via MalaCards
Search UROD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DCUP_HUMAN
  • Familial porphyria cutanea tarda (FPCT) [MIM:176100]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. {ECO:0000269 PubMed:10338097, ECO:0000269 PubMed:10477430, ECO:0000269 PubMed:11069625, ECO:0000269 PubMed:11295834, ECO:0000269 PubMed:11719352, ECO:0000269 PubMed:2243121, ECO:0000269 PubMed:2920211, ECO:0000269 PubMed:7706766, ECO:0000269 PubMed:8896428, ECO:0000269 PubMed:9792863}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hepatoerythropoietic porphyria (HEP) [MIM:176100]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. HEP is a cutaneous porphyria that presents in infancy. It is characterized biochemically by excessive excretion of acetate-substituted porphyrins and accumulation of protoporphyrin in erythrocytes. Uroporphyrinogen decarboxylase levels are very low in erythrocytes and cultured skin fibroblasts. {ECO:0000269 PubMed:12071824, ECO:0000269 PubMed:15491440, ECO:0000269 PubMed:1634232, ECO:0000269 PubMed:17240319, ECO:0000269 PubMed:1905636, ECO:0000269 PubMed:21668429, ECO:0000269 PubMed:3775362, ECO:0000269 PubMed:8176248, ECO:0000269 PubMed:8644733, ECO:0000269 PubMed:8896428}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for UROD Gene

porphyria cutanea tarda,hepatoerythropoietic,autosomal dominant photosensitive dermatitis,mechanical fragility of the light-exposed skin,hyperpigmentation,hypertrichosis,provoked by various ecogenic factors and,likely by heterozygosity to some HFE mutations

Additional Disease Information for UROD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for UROD Gene

  1. Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. (PMID: 19419417) Badenas C … Herrero C (Clinical genetics 2009) 3 23 45 58
  2. Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene. (PMID: 17627795) Méndez M … Enríquez de Salamanca R (The British journal of dermatology 2007) 3 23 45 58
  3. Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. (PMID: 15491440) Armstrong DK … Elder GH (The British journal of dermatology 2004) 3 4 23 58
  4. Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT). (PMID: 11295834) Cappellini MD … Fiorelli G (Human mutation 2001) 3 4 23 58
  5. Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. (PMID: 11719352) Phillips JD … Kushner JP (Blood 2001) 3 4 23 58

Products for UROD Gene

Sources for UROD Gene