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Aliases for SLC35A2 Gene

Aliases for SLC35A2 Gene

  • Solute Carrier Family 35 Member A2 2 3 4 5
  • Solute Carrier Family 35 (UDP-Galactose Transporter), Member A2 2 3
  • Solute Carrier Family 35 (UDP-Galactose Transporter), Member 2 2 3
  • UDP-Gal-Tr 3 4
  • UGALT 3 4
  • UGTL 3 4
  • UGT 3 4
  • UDP-Galactose Translocator 3
  • UDP-Galactose Transporter 4
  • CDG2M 3
  • UGAT 3
  • CDGX 3
  • UGT1 3
  • UGT2 3

External Ids for SLC35A2 Gene

Previous HGNC Symbols for SLC35A2 Gene

  • UGALT

Previous GeneCards Identifiers for SLC35A2 Gene

  • GC0XM047563
  • GC0XM047021
  • GC0XM047806
  • GC0XM048516
  • GC0XM048645
  • GC0XM048760
  • GC0XM046416

Summaries for SLC35A2 Gene

Entrez Gene Summary for SLC35A2 Gene

  • This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

GeneCards Summary for SLC35A2 Gene

SLC35A2 (Solute Carrier Family 35 Member A2) is a Protein Coding gene. Diseases associated with SLC35A2 include Congenital Disorder Of Glycosylation, Type Iim and Slc35a2-Cdg. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include sugar:proton symporter activity and UDP-galactose transmembrane transporter activity. An important paralog of this gene is SLC35A3.

UniProtKB/Swiss-Prot for SLC35A2 Gene

  • Transports nucleotide sugars from the cytosol into Golgi vesicles where glycosyltransferases function.

Gene Wiki entry for SLC35A2 Gene

Additional gene information for SLC35A2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC35A2 Gene

Genomics for SLC35A2 Gene

GeneHancer (GH) Regulatory Elements for SLC35A2 Gene

Promoters and enhancers for SLC35A2 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
GH0XI048910 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.2 -215 4 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 FOS SLC35A2 ENSG00000204620 KCND1 PIM2
GH0XI048954 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 12 -46.8 -46810 8.1 HDGF PKNOX1 CLOCK SMAD1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 IRF4 RNU6-722P OTUD5 GPKOW PIM2 SLC35A2 PCSK1N ENSG00000228343 KCND1 GRIPAP1
GH0XI048933 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.5 -26.5 -26542 9.7 HDGF FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 IRF4 ENSG00000279155 PQBP1 WAS OTUD5 SLC35A2 TIMM17B PIM2 TBC1D25 ENSG00000204620 ENSG00000228343
GH0XI048890 Enhancer 1.1 Ensembl ENCODE 12.8 +20.5 20544 2 ARID4B SIN3A ZNF48 GLIS2 ZNF143 ATF7 SP3 REST GMEB1 GLIS1 SLC35A2 PIM2 ERAS GLOD5 GRIPAP1 PQBP1 PCSK1N
GH0XI048945 Enhancer 0.9 ENCODE dbSUPER 14.3 -34.0 -33980 0.2 CTCF SAP130 ARID4B ZNF2 RAD21 RFX5 FOXK2 SMC3 ZNF143 ZNF600 PIM2 SLC35A2 GLOD5 ENSG00000279155 OTUD5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC35A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC35A2 gene promoter:

Genomic Locations for SLC35A2 Gene

Genomic Locations for SLC35A2 Gene
chrX:48,903,180-48,911,958
(GRCh38/hg38)
Size:
8,779 bases
Orientation:
Minus strand
chrX:48,760,459-48,769,235
(GRCh37/hg19)

Genomic View for SLC35A2 Gene

Genes around SLC35A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC35A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC35A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC35A2 Gene

Proteins for SLC35A2 Gene

  • Protein details for SLC35A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78381-S35A2_HUMAN
    Recommended name:
    UDP-galactose translocator
    Protein Accession:
    P78381
    Secondary Accessions:
    • A8K2L9
    • A8K9V1
    • B4DE11
    • B4DPT2
    • E7EW45
    • Q8IV21
    • Q92553

    Protein attributes for SLC35A2 Gene

    Size:
    396 amino acids
    Molecular mass:
    41307 Da
    Quaternary structure:
    • Interacts with SLC35A3.

    Alternative splice isoforms for SLC35A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC35A2 Gene

Post-translational modifications for SLC35A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC35A2 Gene

Domains & Families for SLC35A2 Gene

Gene Families for SLC35A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC35A2 Gene

Suggested Antigen Peptide Sequences for SLC35A2 Gene

Graphical View of Domain Structure for InterPro Entry

P78381

UniProtKB/Swiss-Prot:

S35A2_HUMAN :
  • Belongs to the nucleotide-sugar transporter family. SLC35A subfamily.
Family:
  • Belongs to the nucleotide-sugar transporter family. SLC35A subfamily.
genes like me logo Genes that share domains with SLC35A2: view

Function for SLC35A2 Gene

Molecular function for SLC35A2 Gene

UniProtKB/Swiss-Prot Function:
Transports nucleotide sugars from the cytosol into Golgi vesicles where glycosyltransferases function.

Gene Ontology (GO) - Molecular Function for SLC35A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005351 sugar:proton symporter activity IEA --
GO:0005459 UDP-galactose transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLC35A2: view

Phenotypes for SLC35A2 Gene

genes like me logo Genes that share phenotypes with SLC35A2: view

Human Phenotype Ontology for SLC35A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC35A2 Gene

Localization for SLC35A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC35A2 Gene

Golgi apparatus membrane; Multi-pass membrane protein.

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 SLC35A2 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC35A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005634 nucleus IDA --
GO:0005783 endoplasmic reticulum IDA 21918738
GO:0005794 Golgi apparatus IEA,IDA 21918738
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC35A2: view

Pathways & Interactions for SLC35A2 Gene

genes like me logo Genes that share pathways with SLC35A2: view

Gene Ontology (GO) - Biological Process for SLC35A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006012 galactose metabolic process TAS 9010752
GO:0006810 transport IEA --
GO:0008643 carbohydrate transport IEA --
GO:0015992 proton transport IEA --
GO:0072334 UDP-galactose transmembrane transport IEA,TAS 9010752
genes like me logo Genes that share ontologies with SLC35A2: view

No data available for SIGNOR curated interactions for SLC35A2 Gene

Drugs & Compounds for SLC35A2 Gene

(2) Drugs for SLC35A2 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dabrafenib Approved, Investigational Pharma BRAF kinase inhibitor, Kinase Inhibitors, Mutant BRAF Kinase 92

(2) Additional Compounds for SLC35A2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC35A2: view

Transcripts for SLC35A2 Gene

Unigene Clusters for SLC35A2 Gene

Solute carrier family 35 (UDP-galactose transporter), member A2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC35A2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a ·
SP1: - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - -
SP5: - - - - - -
SP6: - - - - - - - - - - -
SP7: - - - - - - - - - -
SP8: - - - - - - -
SP9: - - - -
SP10: - - -
SP11: - - - -
SP12: - -
SP13: - - - - - -
SP14: - - - - - -

ExUns: 9b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for SLC35A2 Gene

GeneLoc Exon Structure for
SLC35A2
ECgene alternative splicing isoforms for
SLC35A2

Expression for SLC35A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC35A2 Gene

Protein differential expression in normal tissues from HIPED for SLC35A2 Gene

This gene is overexpressed in Lung (21.0), Breast (19.0), Stomach (10.2), Placenta (7.2), and Fetal Liver (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC35A2 Gene



Protein tissue co-expression partners for SLC35A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC35A2 Gene:

SLC35A2

SOURCE GeneReport for Unigene cluster for SLC35A2 Gene:

Hs.21899

Evidence on tissue expression from TISSUES for SLC35A2 Gene

  • Nervous system(4.8)
  • Intestine(4.7)
  • Blood(4.5)
  • Pancreas(4.2)
  • Kidney(4.1)
  • Lung(3.5)
  • Liver(3.4)
  • Skin(2.3)
  • Thyroid gland(2.2)
  • Stomach(2)
  • Urine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC35A2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
General:
  • blood
  • hair
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with SLC35A2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SLC35A2 Gene

Orthologs for SLC35A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC35A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC35A2 34
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UGT 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UGT 34
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc35a2 34
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC35A2 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC35A2 34
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC35A2 34
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii SLC35A2 34
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Csat 35 34
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea nstp-5 33 34
  • 52.29 (n)
ZK896.9 35
  • 42 (a)
F44C8.7 35
  • 38 (a)
srf-3 34
  • 38 (a)
OneToMany
B0212.4a 35
  • 36 (a)
B0212.4b 35
  • 36 (a)
ZC250.3 35
  • 35 (a)
nstp-3 34
  • 35 (a)
OneToMany
nstp-8 34
  • 32 (a)
OneToMany
nstp-6 34
  • 30 (a)
OneToMany
nstp-7 34
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 60 (a)
OneToOne
Species where no ortholog for SLC35A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC35A2 Gene

ENSEMBL:
Gene Tree for SLC35A2 (if available)
TreeFam:
Gene Tree for SLC35A2 (if available)

Paralogs for SLC35A2 Gene

Paralogs for SLC35A2 Gene

(3) SIMAP similar genes for SLC35A2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SLC35A2: view

Variants for SLC35A2 Gene

Sequence variations from dbSNP and Humsavar for SLC35A2 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1057518719 pathogenic, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 48,905,289(-) ACGA/ coding_sequence_variant, frameshift, intron_variant
rs1057519000 likely-pathogenic, Epileptic encephalopathy 48,905,400(-) GCCCACTGCAGCC/GCC coding_sequence_variant, frameshift, intron_variant
rs1057524438 uncertain-significance, not specified, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 48,909,852(-) C/A coding_sequence_variant, intron_variant, missense_variant
rs1060503676 uncertain-significance, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 48,905,374(-) C/T coding_sequence_variant, intron_variant, missense_variant
rs1060503677 uncertain-significance, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 48,909,809(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC35A2 Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV gain+loss 17666407
nsv1139402 CNV deletion 24896259
nsv528292 CNV gain 19592680
nsv6894 CNV insertion 18451855

Variation tolerance for SLC35A2 Gene

Residual Variation Intolerance Score: 25.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.94; 19.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC35A2 Gene

Human Gene Mutation Database (HGMD)
SLC35A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC35A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC35A2 Gene

Disorders for SLC35A2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SLC35A2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iim
  • cdg2m
slc35a2-cdg
  • congenital disorder of glycosylation, type iim
bladder tuberculosis
  • tuberculosis of bladder
urogenital tuberculosis
  • genitourinary tuberculosis
hepatitis d
  • delta hepatitis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S35A2_HUMAN
  • Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896]: A disorder characterized by developmental delay, hypotonia, ocular anomalies, and brain malformations. Othere more variable clinical features included seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent infections, dysmorphic features, shortened limbs, and coagulation defects. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:23561849, ECO:0000269 PubMed:24115232}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC35A2

genes like me logo Genes that share disorders with SLC35A2: view

No data available for Genatlas for SLC35A2 Gene

Publications for SLC35A2 Gene

  1. Human UDP-galactose translocator: molecular cloning of a complementary DNA that complements the genetic defect of a mutant cell line deficient in UDP-galactose translocator. (PMID: 8889805) Miura N … Kawakita M (Journal of biochemistry 1996) 3 4 22 58
  2. Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family. (PMID: 9010752) Ishida N … Kawakita M (Journal of biochemistry 1996) 3 4 22 58
  3. The UDP-galactose translocator gene is mapped to band Xp11.23-p11.22 containing the Wiskott-Aldrich syndrome locus. (PMID: 8128316) Hara T … Kawakita M (Somatic cell and molecular genetics 1993) 2 3 4 58
  4. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. (PMID: 23561849) Ng BG … Freeze HH (American journal of human genetics 2013) 3 4 58
  5. De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. (PMID: 24115232) Kodera H … Saitsu H (Human mutation 2013) 3 4 58

Products for SLC35A2 Gene

Sources for SLC35A2 Gene

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