Aliases for GLT8D2 Gene

Aliases for GLT8D2 Gene

  • Glycosyltransferase 8 Domain Containing 2 2 3 5
  • Glycosyltransferase 8 Domain-Containing Protein 2 3 4
  • EC 2.4.1.- 4
  • EC 2.4.1 54
  • GALA4A 4

External Ids for GLT8D2 Gene

Previous GeneCards Identifiers for GLT8D2 Gene

  • GC12M102886
  • GC12M104382
  • GC12M101442

Summaries for GLT8D2 Gene

GeneCards Summary for GLT8D2 Gene

GLT8D2 (Glycosyltransferase 8 Domain Containing 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups. An important paralog of this gene is GLT8D1.

Additional gene information for GLT8D2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLT8D2 Gene

Genomics for GLT8D2 Gene

GeneHancer (GH) Regulatory Elements for GLT8D2 Gene

Promoters and enhancers for GLT8D2 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
GH12J104063 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 -0.5 -520 3 SIN3A ZNF24 MLX RBPJ POLR2A USF2 HCFC1 MYC L3MBTL2 MAX HCFC2 GLT8D2 NONHSAG012135.2 TDG NFYB RPL18AP3 C12orf73
GH12J104048 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 750.4 +14.9 14898 3.3 ZBTB40 ZNF362 ZNF384 POLR2A RNF2 PRDM10 PATZ1 ZNF501 SP2 ZNF239 GLT8D2 TDG C12orf73 ENSG00000257681 lnc-C12orf73-1
GH12J104476 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -415.0 -415043 5 SP1 SMARCE1 MYC ETV6 RELA L3MBTL2 DACH1 TEAD4 ZKSCAN8 POLR2A GLT8D2 HCFC2 WASHC4 CHST11 EID3 lnc-NFYB-2 ENSG00000258111 lnc-TXNRD1-5
GH12J103858 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.7 +204.3 204292 3.5 SREBF1 SMARCE1 POLR2A HLF L3MBTL2 ZNF121 MNT ZNF148 ZFX MAFK TDG GLT8D2 TTC41P HCFC2 C12orf73 ENSG00000212594 NT5DC3 piR-42694-040 ENSG00000257327
GH12J104279 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 1.3 -216.7 -216738 3.7 POLR2A SP7 ZNF384 PRDM10 BRCA1 CEBPB REST JUN RCOR1 NFE2 ENSG00000257732 EID3 TXNRD1 GLT8D2 NONHSAG012141.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLT8D2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GLT8D2 gene promoter:
  • AP-4
  • FOXJ2
  • FOXJ2 (long isoform)
  • Olf-1
  • Pbx1a
  • POU2F1
  • POU2F1a
  • POU3F2
  • Sp1

Genomic Locations for GLT8D2 Gene

Genomic Locations for GLT8D2 Gene
chr12:103,988,984-104,064,183
(GRCh38/hg38)
Size:
75,200 bases
Orientation:
Minus strand
chr12:104,382,762-104,457,961
(GRCh37/hg19)
Size:
75,200 bases
Orientation:
Minus strand

Genomic View for GLT8D2 Gene

Genes around GLT8D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLT8D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLT8D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLT8D2 Gene

Proteins for GLT8D2 Gene

  • Protein details for GLT8D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1C3-GL8D2_HUMAN
    Recommended name:
    Glycosyltransferase 8 domain-containing protein 2
    Protein Accession:
    Q9H1C3
    Secondary Accessions:
    • Q96KA2

    Protein attributes for GLT8D2 Gene

    Size:
    349 amino acids
    Molecular mass:
    40026 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GLT8D2 Gene

Selected DME Specific Peptides for GLT8D2 Gene

Q9H1C3:
  • GHAAAFS
  • VLKGKIRPDSSRPELLQPLNFVRFYLPLL
  • RIRKWIEHSKLREINFKIVEFNP
  • AKLLHWNG
  • FYVVGLR
  • DDDVIVQGDI

Post-translational modifications for GLT8D2 Gene

  • Glycosylation at Asn234
  • Modification sites at PhosphoSitePlus

Other Protein References for GLT8D2 Gene

Domains & Families for GLT8D2 Gene

Gene Families for GLT8D2 Gene

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

Protein Domains for GLT8D2 Gene

Suggested Antigen Peptide Sequences for GLT8D2 Gene

GenScript: Design optimal peptide antigens:
  • Glycosyltransferase 8 domain-containing protein 2 (GL8D2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H1C3

UniProtKB/Swiss-Prot:

GL8D2_HUMAN :
  • Belongs to the glycosyltransferase 8 family.
Family:
  • Belongs to the glycosyltransferase 8 family.
genes like me logo Genes that share domains with GLT8D2: view

Function for GLT8D2 Gene

Enzyme Numbers (IUBMB) for GLT8D2 Gene

Phenotypes From GWAS Catalog for GLT8D2 Gene

Gene Ontology (GO) - Molecular Function for GLT8D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with GLT8D2: view
genes like me logo Genes that share phenotypes with GLT8D2: view

Animal Models for GLT8D2 Gene

MGI Knock Outs for GLT8D2:

Animal Model Products

  • Taconic Biosciences Mouse Models for GLT8D2

CRISPR Products

miRNA for GLT8D2 Gene

miRTarBase miRNAs that target GLT8D2

Clone Products

No data available for Molecular function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GLT8D2 Gene

Localization for GLT8D2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLT8D2 Gene

Membrane; Single-pass type II 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 GLT8D2 gene
Compartment Confidence
golgi apparatus 4
endoplasmic reticulum 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GLT8D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GLT8D2: view

Pathways & Interactions for GLT8D2 Gene

PathCards logo

SuperPathways for GLT8D2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GLT8D2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GLT8D2 Gene

Drugs & Compounds for GLT8D2 Gene

No Compound Related Data Available

Transcripts for GLT8D2 Gene

mRNA/cDNA for GLT8D2 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLT8D2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11
SP1: -
SP2: - -
SP3:

Relevant External Links for GLT8D2 Gene

GeneLoc Exon Structure for
GLT8D2
ECgene alternative splicing isoforms for
GLT8D2

Expression for GLT8D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GLT8D2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GLT8D2 Gene

This gene is overexpressed in Ovary (59.9) and Placenta (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GLT8D2 Gene



Protein tissue co-expression partners for GLT8D2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GLT8D2 Gene:

GLT8D2

SOURCE GeneReport for Unigene cluster for GLT8D2 Gene:

Hs.631650
genes like me logo Genes that share expression patterns with GLT8D2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GLT8D2 Gene

Orthologs for GLT8D2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GLT8D2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLT8D2 33 32
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GLT8D2 33 32
  • 91.02 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GLT8D2 33 32
  • 90.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Glt8d2 17 33 32
  • 87.32 (n)
rat
(Rattus norvegicus)
Mammalia Glt8d2 32
  • 86.13 (n)
oppossum
(Monodelphis domestica)
Mammalia GLT8D2 33
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 83 (a)
OneToMany
-- 33
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves GLT8D2 33 32
  • 77.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLT8D2 33
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glt8d2 32
  • 66.96 (n)
zebrafish
(Danio rerio)
Actinopterygii glt8d2 33 32
  • 65.12 (n)
OneToOne
Species where no ortholog for GLT8D2 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (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)
  • worm (Caenorhabditis elegans)

Evolution for GLT8D2 Gene

ENSEMBL:
Gene Tree for GLT8D2 (if available)
TreeFam:
Gene Tree for GLT8D2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLT8D2: view image

Paralogs for GLT8D2 Gene

Variants for GLT8D2 Gene

Sequence variations from dbSNP and Humsavar for GLT8D2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000076763 -- 104,024,380(-) C/A intron_variant
rs1000180409 -- 104,061,405(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000183104 -- 104,030,058(-) T/G intron_variant
rs1000206894 -- 104,065,731(-) G/A upstream_transcript_variant
rs1000228046 -- 104,021,351(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GLT8D2 Gene

Variant ID Type Subtype PubMed ID
esv2746311 CNV deletion 23290073
esv2746312 CNV deletion 23290073
esv3580445 CNV loss 25503493
esv3581849 CNV gain 25503493
nsv560039 CNV gain 21841781
nsv973113 CNV duplication 23825009

Variation tolerance for GLT8D2 Gene

Residual Variation Intolerance Score: 86.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLT8D2 Gene

Human Gene Mutation Database (HGMD)
GLT8D2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLT8D2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLT8D2 Gene

Disorders for GLT8D2 Gene

Additional Disease Information for GLT8D2

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

No disorders were found for GLT8D2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GLT8D2 Gene

Publications for GLT8D2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for GLT8D2 Gene

Sources for GLT8D2 Gene