The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provid... See more...

Aliases for UGT8 Gene

Aliases for UGT8 Gene

  • UDP Glycosyltransferase 8 2 3 5
  • 2-Hydroxyacylsphingosine 1-Beta-Galactosyltransferase 2 3 4
  • UDP-Galactose-Ceramide Galactosyltransferase 3 4
  • Ceramide UDP-Galactosyltransferase 3 4
  • Cerebroside Synthase 3 4
  • UGT4 3 4
  • CGT 3 4
  • UDP-Galactose Ceramide Galactosyltransferase 2
  • Uridine Diphosphate Glycosyltransferase 8 3
  • EC 2.4.1.47 4
  • EC 2.4.1 50
  • UGT8 5

External Ids for UGT8 Gene

Previous HGNC Symbols for UGT8 Gene

  • CGT

Previous GeneCards Identifiers for UGT8 Gene

  • GC04P115964
  • GC04P115801
  • GC04P115978
  • GC04P116002
  • GC04P115877
  • GC04P115739
  • GC04P115519
  • GC04P111253

Summaries for UGT8 Gene

Entrez Gene Summary for UGT8 Gene

  • The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for UGT8 Gene

UGT8 (UDP Glycosyltransferase 8) is a Protein Coding gene. Diseases associated with UGT8 include Niemann-Pick Disease, Type A and Metachromatic Leukodystrophy. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and glucuronosyltransferase activity. An important paralog of this gene is UGT2A2.

UniProtKB/Swiss-Prot Summary for UGT8 Gene

  • Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system (PubMed:9125199). Galactosylates both hydroxy- and non-hydroxy fatty acid-containing ceramides and diglycerides (By similarity).

Gene Wiki entry for UGT8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UGT8 Gene

Genomics for UGT8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UGT8 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
GH04J114597 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 276.9 +2.6 2609 6.8 BCLAF1 SP1 ZNF600 POLR2A NFIC ZIC2 BCL11A SMAD5 TRIM22 BHLHE40 UGT8 MIR577 lnc-NDST4-2 piR-48553-225 NDST4
GH04J114561 Enhancer 0.5 Ensembl ENCODE 25.5 -34.8 -34830 4.7 ZIC2 NANOG HSALNG0036556 piR-40441-012 UGT8 MIR577 HSALNG0036554 piR-43105-504 HSALNG0036555-002 HSALNG0036555-001 lnc-NDST4-2 ARSJ
GH04J114594 Enhancer 0.4 dbSUPER 26.2 -3.3 -3347 1.3 TRIM25 PRDM10 PKNOX1 HSALNG0036555-001 UGT8 lnc-NDST4-2 HSALNG0036555-002 ARSJ
GH04J114628 Enhancer 0.5 dbSUPER 18.6 +39.9 39914 20.4 MAFF ZNF585B MAFK PRDM6 ZNF664 CEBPB CEBPG UGT8 RF01013 MIR577 piR-48553-225 NDST4
GH04J114613 Enhancer 0.8 Ensembl ENCODE dbSUPER 11.3 +15.5 15476 1 ZFP64 ZBTB40 ZNF184 ZBTB20 CBFA2T3 UGT8 piR-48553-225 NDST4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UGT8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UGT8

Top Transcription factor binding sites by QIAGEN in the UGT8 gene promoter:
  • Chx10
  • ER-alpha
  • HOXA3
  • MyoD
  • Nkx3-1
  • Nkx3-1 v4
  • Nkx6-1
  • POU2F1
  • POU2F1a

Genomic Locations for UGT8 Gene

Latest Assembly
chr4:114,598,402-114,687,914
(GRCh38/hg38)
Size:
89,513 bases
Orientation:
Plus strand

Previous Assembly
chr4:115,519,558-115,599,381
(GRCh37/hg19 by Entrez Gene)
Size:
79,824 bases
Orientation:
Plus strand

chr4:115,519,611-115,599,380
(GRCh37/hg19 by Ensembl)
Size:
79,770 bases
Orientation:
Plus strand

Genomic View for UGT8 Gene

Genes around UGT8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGT8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGT8 Gene

Proteins for UGT8 Gene

  • Protein details for UGT8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16880-CGT_HUMAN
    Recommended name:
    2-hydroxyacylsphingosine 1-beta-galactosyltransferase
    Protein Accession:
    Q16880
    Secondary Accessions:
    • B3KXU7
    • O00196

    Protein attributes for UGT8 Gene

    Size:
    541 amino acids
    Molecular mass:
    61438 Da
    Quaternary structure:
    No Data Available

neXtProt entry for UGT8 Gene

Selected DME Specific Peptides for UGT8 Gene

Q16880:
  • SHGGLNS
  • PQKVIWR

Post-translational modifications for UGT8 Gene

  • Glycosylation at Asn78, Asn333, and Asn442
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CGT_HUMAN (980)

Domains & Families for UGT8 Gene

Gene Families for UGT8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for UGT8 Gene

InterPro:
Blocks:
  • UDP-glucoronosyl/UDP-glucosyl transferase

Suggested Antigen Peptide Sequences for UGT8 Gene

GenScript: Design optimal peptide antigens:
  • UDP-galactose-ceramide galactosyltransferase (CGT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16880

UniProtKB/Swiss-Prot:

CGT_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
Family:
  • Belongs to the UDP-glycosyltransferase family.
genes like me logo Genes that share domains with UGT8: view

Function for UGT8 Gene

Molecular function for UGT8 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system (PubMed:9125199). Galactosylates both hydroxy- and non-hydroxy fatty acid-containing ceramides and diglycerides (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acylsphing-4-enine + UDP-alpha-D-galactose = a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H(+) + UDP; Xref=Rhea:RHEA:13093, ChEBI:CHEBI:15378, ChEBI:CHEBI:18390, ChEBI:CHEBI:52639, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914; EC=2.4.1.47; Evidence={ECO:0000250|UniProtKB:Q09426};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acyl-sphingoid base + UDP-alpha-D-galactose = a D-galactosylceramide + H(+) + UDP; Xref=Rhea:RHEA:48344, ChEBI:CHEBI:15378, ChEBI:CHEBI:36498, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:83273; Evidence={ECO:0000269|PubMed:9125199};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N-(2-hydroxy-hexanoyl)-sphing-4-enine + UDP-alpha-D-galactose = H(+) + N-(2-hydroxy-hexanoyl)-beta-D-galactosyl-sphing-4-enine + UDP; Xref=Rhea:RHEA:43400, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:83244, ChEBI:CHEBI:83246; Evidence={ECO:0000250|UniProtKB:Q09426};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N-(2-hydroxy-hexanoyl)-sphinganine + UDP-alpha-D-galactose = H(+) + N-(2-hydroxyhexanoyl)-beta-D-galactosylsphinganine + UDP; Xref=Rhea:RHEA:43404, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:83248, ChEBI:CHEBI:83257; Evidence={ECO:0000250|UniProtKB:Q09426};.
GENATLAS Biochemistry:
UDP glycosyltransferase 8,UDP-galactose ceramide galactosyl transferase,expressed in the terminal oligodendrocyte (CNS) and in Schwann cell (PNS)

Enzyme Numbers (IUBMB) for UGT8 Gene

Phenotypes From GWAS Catalog for UGT8 Gene

Gene Ontology (GO) - Molecular Function for UGT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003851 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity ISS --
GO:0008194 UDP-glycosyltransferase activity IEA,IBA 21873635
GO:0008489 UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity TAS,IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with UGT8: view
genes like me logo Genes that share phenotypes with UGT8: view

Animal Models for UGT8 Gene

MGI Knock Outs for UGT8:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGT8

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UGT8 Gene

Localization for UGT8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT8 Gene

Membrane. Single-pass membrane protein. Endoplasmic reticulum.

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 UGT8 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
nucleus 3
cytosol 3
golgi apparatus 3
peroxisome 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UGT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum ISS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
genes like me logo Genes that share ontologies with UGT8: view

Pathways & Interactions for UGT8 Gene

genes like me logo Genes that share pathways with UGT8: view

UniProtKB/Swiss-Prot Q16880-CGT_HUMAN

  • Pathway: Sphingolipid metabolism; galactosylceramide biosynthesis.

SIGNOR curated interactions for UGT8 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for UGT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002175 protein localization to paranode region of axon IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006682 galactosylceramide biosynthetic process ISS --
GO:0006687 glycosphingolipid metabolic process TAS --
genes like me logo Genes that share ontologies with UGT8: view

Drugs & Compounds for UGT8 Gene

(9) Drugs for UGT8 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved, Experimental, Investigational, Vet_approved Pharma Target 0
4,6-Dideoxyglucose Experimental Pharma Target 0
6-Amino-4-Hydroxymethyl-Cyclohex-4-Ene-1,2,3-Triol Experimental Pharma Target 0
Ceramide NG Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0

(42) Additional Compounds for UGT8 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cer(d18:0/12:0)
  • C12:0 DHCer
  • N-(Dodecanoyl)-sphinganine
  • N-Dodecanoyldihydrosphingosine
  • N-Lauroyldihydrosphingosine
  • N-Lauroylsphinganine
Cer(d18:0/14:0)
  • C14DH Cer
  • DHC-a 18:0/14:0
  • N-(Myristoyl)-dihydroceramide
  • N-(Tetradecanoyl)-dihydroceramide
  • N-(Tetradecanoyl)-sphinganine
67030-48-2
Cer(d18:0/16:0)
  • C16DH Cer
  • DHC-a 18:0/16:0
  • N-(Hexadecanoyl)-dihydroceramide
  • N-(Hexadecanoyl)-sphinganine
  • N-(Palmitoyl)-dihydroceramide
5966-29-0
Cer(d18:0/18:1(11Z))
  • Ceramide
  • N-(11Z-Octadecenoyl)-sphinganine
  • Ceramide(D18:0/18:1(11Z))
  • N-(11Z-Octadecenoyl)-dihydrosphingosine
  • N-(11Z-Octadecenoyl)-D-erythro-sphinganine
Cer(d18:0/18:1(9Z))
  • C18:1DH Cer
  • N-(9Z-Octadecenoyl)-sphinganine
  • N-(9Z-Octadecenoyl)dihydroceramide
  • N-(Oleoyl)dihydroceramide
  • N-[(9Z)-Octadecenoyl]dihydrosphingosine
genes like me logo Genes that share compounds with UGT8: view

Transcripts for UGT8 Gene

mRNA/cDNA for UGT8 Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGT8

Alternative Splicing Database (ASD) splice patterns (SP) for UGT8 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7
SP1: -
SP2:

Relevant External Links for UGT8 Gene

GeneLoc Exon Structure for
UGT8

Expression for UGT8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UGT8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UGT8 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x16.9), Brain - Substantia nigra (x7.6), and Brain - Hippocampus (x4.5).

Protein differential expression in normal tissues from HIPED for UGT8 Gene

This gene is overexpressed in Synovial fluid (38.7) and Monocytes (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UGT8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UGT8

SOURCE GeneReport for Unigene cluster for UGT8 Gene:

Hs.144197

Evidence on tissue expression from TISSUES for UGT8 Gene

  • Nervous system(4.9)
  • Kidney(2.3)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with UGT8: view

Primer products for research

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UGT8 Gene

Orthologs for UGT8 Gene

This gene was present in the common ancestor of animals.

Orthologs for UGT8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UGT8 29 30
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UGT8 29 30
  • 94.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UGT8 29 30
  • 92.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ugt8 29
  • 90.14 (n)
Mouse
(Mus musculus)
Mammalia Ugt8a 29 16 30
  • 90.08 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia UGT8 30
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia UGT8 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CGT 30
  • 84 (a)
OneToOne
UGT8 29
  • 81.08 (n)
Lizard
(Anolis carolinensis)
Reptilia UGT8 30
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ugt8 29
  • 73.06 (n)
Str.9727 29
Zebrafish
(Danio rerio)
Actinopterygii UGT8 30
  • 69 (a)
OneToOne
zgc:136652 29
  • 68.29 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG30438 29 30
  • 46.45 (n)
ManyToMany
Ugt35b 30
  • 29 (a)
ManyToMany
CG6475 30
  • 26 (a)
ManyToMany
CG4302 30
  • 26 (a)
ManyToMany
Ugt86Da 30 31
  • 26 (a)
ManyToMany
Ugt86Dd 30 31
  • 26 (a)
ManyToMany
Ugt86Dc 30 31
  • 25 (a)
ManyToMany
CG15661 30
  • 25 (a)
ManyToMany
CG10178 30
  • 25 (a)
ManyToMany
Ugt36Ba 30
  • 25 (a)
ManyToMany
CG17323 30 31
  • 25 (a)
ManyToMany
Ugt86Di 30 31
  • 25 (a)
ManyToMany
CG17322 30
  • 25 (a)
ManyToMany
Ugt37c1 30
  • 25 (a)
ManyToMany
CG5724 30 31
  • 24 (a)
ManyToMany
Ugt86De 30
  • 24 (a)
ManyToMany
Ugt36Bb 30
  • 24 (a)
ManyToMany
Ugt37a1 30 31
  • 24 (a)
ManyToMany
CG17324 30
  • 23 (a)
ManyToMany
Ugt37b1 30
  • 23 (a)
ManyToMany
Ugt36Bc 30 31
  • 23 (a)
ManyToMany
Ugt86Dj 30 31
  • 23 (a)
ManyToMany
Ugt35a 30
  • 23 (a)
ManyToMany
Ugt86Dg 30
  • 23 (a)
ManyToMany
CG31002 30
  • 22 (a)
ManyToMany
Ugt86Dh 30 31
  • 22 (a)
ManyToMany
CG5999 30 31
  • 22 (a)
ManyToMany
CG10168 30 31
  • 20 (a)
ManyToMany
CG11289 30
  • 20 (a)
ManyToMany
CG10170 30 31
  • 20 (a)
ManyToMany
CG16732 30 31
  • 20 (a)
ManyToMany
Dot 30
  • 20 (a)
ManyToMany
CG3797 30
  • 18 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002449 29
  • 44.88 (n)
Worm
(Caenorhabditis elegans)
Secernentea ugt-58 29 30
  • 44.49 (n)
OneToMany
C17G1.3 31
  • 29 (a)
F10D2.5 31
  • 28 (a)
F35H8.6 31
  • 28 (a)
F01E11.1 31
  • 27 (a)
AC3.2 31
  • 26 (a)
T07C5.1a 31
  • 25 (a)
F01D4.1 31
  • 25 (a)
F01D4.2 31
  • 25 (a)
T19H12.9 31
  • 24 (a)
T19H12.11 31
  • 24 (a)
T03D3.1 31
  • 24 (a)
AC3.8 31
  • 23 (a)
C10H11.5 31
  • 23 (a)
C33A12.6 31
  • 23 (a)
Species where no ortholog for UGT8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for UGT8 Gene

ENSEMBL:
Gene Tree for UGT8 (if available)
TreeFam:
Gene Tree for UGT8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UGT8: view image
Alliance of Genome Resources:
Additional Orthologs for UGT8

Paralogs for UGT8 Gene

(27) SIMAP similar genes for UGT8 Gene using alignment to 2 proteins:

  • CGT_HUMAN
  • D6RFW2_HUMAN
genes like me logo Genes that share paralogs with UGT8: view

Variants for UGT8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UGT8 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
774616 Benign: not provided 114,623,558(+) A/.
NM_001128174.3(UGT8):c.678= (p.Pro226=)
SYNONYMOUS_VARIANT,NO_SEQUENCE_ALTERATION
783140 Benign: not provided 114,668,146(+) A/.
NM_001128174.3(UGT8):c.1104= (p.Ile368=)
MISSENSE_VARIANT,NO_SEQUENCE_ALTERATION
rs1040617527 Likely Benign: not provided 114,623,495(+) A/G
NM_001128174.3(UGT8):c.615A>G (p.Leu205=)
SYNONYMOUS
rs111563693 Likely Benign: not provided 114,623,334(+) G/A
NM_001128174.3(UGT8):c.454G>A (p.Gly152Arg)
MISSENSE
rs1445853739 Likely Benign: not provided 114,665,719(+) T/C
NM_001128174.3(UGT8):c.1005T>C (p.Thr335=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UGT8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for UGT8 Gene

Variant ID Type Subtype PubMed ID
esv2752021 CNV gain 17911159
esv2759275 CNV loss 17122850
esv3408695 CNV insertion 20981092
esv3601829 CNV gain 21293372
esv3601835 CNV gain 21293372
esv3601837 CNV loss 21293372
nsv1002816 CNV gain 25217958
nsv4478 CNV deletion 18451855
nsv4479 CNV deletion 18451855
nsv509924 OTHER sequence alteration 20534489
nsv524515 CNV gain 19592680
nsv830039 CNV gain 17160897
nsv949809 CNV deletion 24416366

Variation tolerance for UGT8 Gene

Residual Variation Intolerance Score: 58.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.28; 70.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGT8 Gene

Human Gene Mutation Database (HGMD)
UGT8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT8
Leiden Open Variation Database (LOVD)
UGT8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGT8 Gene

Disorders for UGT8 Gene

MalaCards: The human disease database

(9) MalaCards diseases for UGT8 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
niemann-pick disease, type a
  • sphingomyelin lipidosis
metachromatic leukodystrophy
  • mld
nasal cavity squamous cell carcinoma
  • squamous cell carcinoma of nasal cavity
niemann-pick disease
  • lipoid histiocytosis
oligodendroglioma
  • oligodendroglial neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search UGT8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UGT8

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with UGT8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UGT8 Gene

Publications for UGT8 Gene

  1. The human gene CGT encoding the UDP-galactose ceramide galactosyl transferase (cerebroside synthase): cloning, characterization, and assignment to human chromosome 4, band q26. (PMID: 8661025) Bosio A … Stoffel W (Genomics 1996) 2 3 4 22
  2. Cloning, characterization, and expression of human ceramide galactosyltransferase cDNA. (PMID: 9125199) Kapitonov D … Yu RK (Biochemical and biophysical research communications 1997) 3 4 22
  3. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G … Riley BP (Human molecular genetics 2010) 3 40
  4. Gene expression of ceramide kinase, galactosyl ceramide synthase and ganglioside GD3 synthase is associated with prognosis in breast cancer. (PMID: 19125296) Ruckhäberle E … Kaufmann M (Journal of cancer research and clinical oncology 2009) 3 22
  5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 40

Products for UGT8 Gene

Sources for UGT8 Gene