Free for academic non-profit institutions. Other users need a Commercial license

Aliases for COLGALT2 Gene

Aliases for COLGALT2 Gene

  • Collagen Beta(1-O)Galactosyltransferase 2 2 3 4 5
  • Glycosyltransferase 25 Domain Containing 2 2 3
  • Glycosyltransferase 25 Family Member 2 3 4
  • Hydroxylysine Galactosyltransferase 2 3 4
  • ColGalT 2 3 4
  • C1orf17 3 4
  • GLT25D2 3 4
  • Procollagen Galactosyltransferase 2 3
  • Chromosome 1 Open Reading Frame 17 2
  • Procollagen Galactosyltransferase 2
  • EC 4
  • KIAA0584 4

External Ids for COLGALT2 Gene

Previous HGNC Symbols for COLGALT2 Gene

  • C1orf17
  • GLT25D2

Summaries for COLGALT2 Gene

GeneCards Summary for COLGALT2 Gene

COLGALT2 (Collagen Beta(1-O)Galactosyltransferase 2) is a Protein Coding gene. Among its related pathways are Collagen chain trimerization and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include procollagen galactosyltransferase activity. An important paralog of this gene is COLGALT1.

UniProtKB/Swiss-Prot for COLGALT2 Gene

  • Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of collagen.

Additional gene information for COLGALT2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COLGALT2 Gene

Genomics for COLGALT2 Gene

GeneHancer (GH) Regulatory Elements for COLGALT2 Gene

Promoters and enhancers for COLGALT2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J184036 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 668.3 +14.5 14473 2.3 HDGF FOXA2 ARNT FEZF1 ZNF2 ZNF48 YY1 SLC30A9 POLR2B GLIS2 COLGALT2 SMG7 TSEN15 RGL1 GC01P183964
GH01J184050 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 -0.2 -153 2.6 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 TSEN15 COLGALT2 LAMC1-AS1 RNF2 ENSG00000271387 SMG7 LAMC2 GC01M184052
GH01J184053 Enhancer 0.4 Ensembl 650.7 -2.0 -1990 0.4 ZNF282 ADNP HMBOX1 COLGALT2 TSEN15 GC01M184052
GH01J183911 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 16.1 +140.0 140043 1 STAT5A BMI1 BATF IRF4 ZNF207 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 COLGALT2 NCF2 APOBEC4 ARPC5 GC01M183931 ENSG00000227554 RGL1
GH01J184001 Enhancer 1.2 Ensembl ENCODE dbSUPER 15.8 +49.1 49115 1.3 ELF3 MLX ARID4B ZNF48 ZNF614 ZNF766 FOS HMG20B MIER2 KAT8 COLGALT2 GC01P183964
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COLGALT2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COLGALT2 Gene

Genomic Locations for COLGALT2 Gene
121,950 bases
Minus strand

Genomic View for COLGALT2 Gene

Genes around COLGALT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COLGALT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COLGALT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COLGALT2 Gene

Proteins for COLGALT2 Gene

  • Protein details for COLGALT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Procollagen galactosyltransferase 2
    Protein Accession:
    Secondary Accessions:
    • O60327
    • Q9BZR0

    Protein attributes for COLGALT2 Gene

    626 amino acids
    Molecular mass:
    72924 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA25510.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for COLGALT2 Gene

Post-translational modifications for COLGALT2 Gene

  • Glycosylation at posLast=580580, Asn382, posLast=185185, and posLast=9797
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COLGALT2 Gene

Domains & Families for COLGALT2 Gene

Gene Families for COLGALT2 Gene

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

Protein Domains for COLGALT2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 25 family.
  • Belongs to the glycosyltransferase 25 family.
genes like me logo Genes that share domains with COLGALT2: view

Function for COLGALT2 Gene

Molecular function for COLGALT2 Gene

UniProtKB/Swiss-Prot Function:
Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of collagen.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + [procollagen]-(2S,5R)-5-hydroxy-L-lysine = UDP + [procollagen]-(2S,5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysine.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=33.5 uM for UDP-galactose {ECO:0000269 PubMed:19075007};

Enzyme Numbers (IUBMB) for COLGALT2 Gene

Phenotypes From GWAS Catalog for COLGALT2 Gene

Gene Ontology (GO) - Molecular Function for COLGALT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0050211 procollagen galactosyltransferase activity TAS,IEA --
genes like me logo Genes that share ontologies with COLGALT2: view
genes like me logo Genes that share phenotypes with COLGALT2: view

Animal Model Products

CRISPR Products

miRNA for COLGALT2 Gene

miRTarBase miRNAs that target COLGALT2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COLGALT2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COLGALT2 Gene

Localization for COLGALT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COLGALT2 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

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 COLGALT2 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 2
nucleus 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COLGALT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COLGALT2: view

Pathways & Interactions for COLGALT2 Gene

genes like me logo Genes that share pathways with COLGALT2: view

Pathways by source for COLGALT2 Gene

Gene Ontology (GO) - Biological Process for COLGALT2 Gene


No data available for SIGNOR curated interactions for COLGALT2 Gene

Drugs & Compounds for COLGALT2 Gene

(2) Drugs for COLGALT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine 5'-diphosphate Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0
genes like me logo Genes that share compounds with COLGALT2: view

Transcripts for COLGALT2 Gene

Unigene Clusters for COLGALT2 Gene

Collagen beta(1-O)galactosyltransferase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COLGALT2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COLGALT2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ·
SP1: - - - - - - - - -
SP2: - - - - - - -
SP3: -
SP4: - - -
SP5: - - -
SP6: -
SP8: - -

ExUns: 16c

Relevant External Links for COLGALT2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COLGALT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COLGALT2 Gene

mRNA differential expression in normal tissues according to GTEx for COLGALT2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.5).

Protein differential expression in normal tissues from HIPED for COLGALT2 Gene

This gene is overexpressed in Fetal heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COLGALT2 Gene

Protein tissue co-expression partners for COLGALT2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COLGALT2 Gene:


SOURCE GeneReport for Unigene cluster for COLGALT2 Gene:


mRNA Expression by UniProt/SwissProt for COLGALT2 Gene:

Tissue specificity: Expressed in brain and skeletal muscle.

Evidence on tissue expression from TISSUES for COLGALT2 Gene

  • Nervous system(4.9)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with COLGALT2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for COLGALT2 Gene

Orthologs for COLGALT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for COLGALT2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GLT25D2 34 33
  • 99.73 (n)
(Monodelphis domestica)
Mammalia COLGALT2 34
  • 92 (a)
(Bos Taurus)
Mammalia GLT25D2 34 33
  • 91.8 (n)
(Mus musculus)
Mammalia Colgalt2 16 34 33
  • 88.87 (n)
(Canis familiaris)
Mammalia COLGALT2 34 33
  • 87.7 (n)
(Rattus norvegicus)
Mammalia Colgalt2 33
  • 87.03 (n)
(Ornithorhynchus anatinus)
Mammalia COLGALT2 34
  • 87 (a)
(Gallus gallus)
Aves COLGALT2 34
  • 79 (a)
GLT25D2 33
  • 78.44 (n)
(Anolis carolinensis)
Reptilia COLGALT2 34
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia colgalt2 33
  • 72.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12299 33
(Danio rerio)
Actinopterygii colgalt2 34 33
  • 65.41 (n)
COLGALT2 (2 of 2) 34
  • 58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31915 34
  • 41 (a)
(Caenorhabditis elegans)
Secernentea D2045.9 34
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
Cin.13713 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13713 33
Species where no ortholog for COLGALT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 COLGALT2 Gene

Gene Tree for COLGALT2 (if available)
Gene Tree for COLGALT2 (if available)
Evolutionary constrained regions (ECRs) for COLGALT2: view image

Paralogs for COLGALT2 Gene

Paralogs for COLGALT2 Gene

(5) SIMAP similar genes for COLGALT2 Gene using alignment to 4 proteins:

  • GT252_HUMAN
  • F5H3T5_HUMAN
genes like me logo Genes that share paralogs with COLGALT2: view

Variants for COLGALT2 Gene

Sequence variations from dbSNP and Humsavar for COLGALT2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
VAR_036978 A breast cancer sample p.Val475Ile
rs1000000445 -- 183,946,922(-) T/C intron_variant
rs1000007086 -- 183,989,208(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000110919 -- 184,016,547(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000143237 -- 183,947,160(-) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for COLGALT2 Gene

Variant ID Type Subtype PubMed ID
esv2010262 CNV deletion 18987734
esv24684 CNV loss 19812545
esv3588119 CNV loss 21293372
esv3588120 CNV gain 21293372
nsv525878 CNV gain 19592680
nsv526480 CNV loss 19592680
nsv832026 CNV gain+loss 17160897

Variation tolerance for COLGALT2 Gene

Residual Variation Intolerance Score: 72.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.68; 57.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COLGALT2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COLGALT2 Gene

Disorders for COLGALT2 Gene

Additional Disease Information for COLGALT2

No disorders were found for COLGALT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COLGALT2 Gene

Publications for COLGALT2 Gene

  1. Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases. (PMID: 19075007) Schegg B … Hennet T (Molecular and cellular biology 2009) 2 3 4 58
  2. Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. (PMID: 11318611) Sood R … Carpten JD (Genomics 2001) 3 4 58
  3. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for COLGALT2 Gene

Sources for COLGALT2 Gene

Loading form....