Aliases for GLB1L2 Gene

Aliases for GLB1L2 Gene

  • Galactosidase Beta 1 Like 2 2 3 5
  • Beta-Galactosidase-1-Like Protein 2 3 4
  • Galactosidase, Beta 1-Like 2 2
  • EC 3.2.1.23 51
  • EC 3.2.1.- 4
  • EC 3.2.1 51
  • MSTP114 3
  • MST114 3
  • GLB1L2 5

External Ids for GLB1L2 Gene

Previous GeneCards Identifiers for GLB1L2 Gene

  • GC11P133708
  • GC11P134201
  • GC11P130156

Summaries for GLB1L2 Gene

GeneCards Summary for GLB1L2 Gene

GLB1L2 (Galactosidase Beta 1 Like 2) is a Protein Coding gene. Diseases associated with GLB1L2 include Cleft Palate, Isolated. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and beta-galactosidase activity. An important paralog of this gene is GLB1L3.

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 GLB1L2 Gene

Genomics for GLB1L2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GLB1L2 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
GH11J134331 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 272.5 +0.1 127 2 ZBTB10 MNT NONO ZIC2 ZNF610 SIN3A ZNF395 VEZF1 ZBTB5 NKRF GLB1L2 GLB1L3 RF00951-022 B3GAT1
GH11J134334 Enhancer 0.3 Ensembl 257.2 +1.6 1568 0.3 HLF GLB1L2 RF00951-022 B3GAT1
GH11J134384 Enhancer 0.8 Ensembl dbSUPER 10.7 +54.9 54926 1.6 ZSCAN16 ZNF843 GLIS1 GATA2 NFIB TRIM28 ZEB2 ZNF629 EGR2 ZBTB17 B3GAT1 GLB1L2 GLB1L3 HSALNG0088385 lnc-THYN1-5
GH11J134395 Enhancer 0.6 dbSUPER 10.3 +66.4 66408 4.9 BHLHE40 RXRA FOXA2 JUND HNF4A FOXA1 RAD21 REST GATA2 MAX B3GAT1 GLB1L3 GLB1L2 lnc-THYN1-5 HSALNG0088385
GH11J134289 Enhancer 0.3 Ensembl 17.1 -42.0 -41983 0.6 L3MBTL2 HSALNG0088377 GLB1L2 ACAD8 THYN1 GLB1L3 piR-34163-003
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLB1L2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLB1L2

Top Transcription factor binding sites by QIAGEN in the GLB1L2 gene promoter:
  • AP-4
  • FOXF2
  • FOXJ2
  • FOXJ2 (long isoform)
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • RORalpha1

Genomic Locations for GLB1L2 Gene

Latest Assembly
chr11:134,331,874-134,378,341
(GRCh38/hg38)
Size:
46,468 bases
Orientation:
Plus strand

Previous Assembly
chr11:134,201,882-134,246,218
(GRCh37/hg19 by Entrez Gene)
Size:
44,337 bases
Orientation:
Plus strand

chr11:134,201,768-134,248,235
(GRCh37/hg19 by Ensembl)
Size:
46,468 bases
Orientation:
Plus strand

Genomic View for GLB1L2 Gene

Genes around GLB1L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLB1L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLB1L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLB1L2 Gene

Proteins for GLB1L2 Gene

  • Protein details for GLB1L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IW92-GLBL2_HUMAN
    Recommended name:
    Beta-galactosidase-1-like protein 2
    Protein Accession:
    Q8IW92
    Secondary Accessions:
    • A6NCE6
    • Q6UX60
    • Q8NC62
    • Q8NCB3
    • Q8NCJ1
    • Q96HP3

    Protein attributes for GLB1L2 Gene

    Size:
    636 amino acids
    Molecular mass:
    72079 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ13636.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11149.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for GLB1L2 Gene

Selected DME Specific Peptides for GLB1L2 Gene

Q8IW92:
  • YMFHGGTNFG
  • YMFHGGTNF
  • ERGKFDFS
  • GGSIHYFRVPREYW
  • DRLLKMK
  • RGIVELLLTSD

Post-translational modifications for GLB1L2 Gene

  • Ubiquitination at Lys165
  • Modification sites at PhosphoSitePlus

Other Protein References for GLB1L2 Gene

Domains & Families for GLB1L2 Gene

Gene Families for GLB1L2 Gene

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

Protein Domains for GLB1L2 Gene

Suggested Antigen Peptide Sequences for GLB1L2 Gene

GenScript: Design optimal peptide antigens:
  • Beta-galactosidase-1-like protein 2 (GLBL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IW92

UniProtKB/Swiss-Prot:

GLBL2_HUMAN :
  • Belongs to the glycosyl hydrolase 35 family.
Family:
  • Belongs to the glycosyl hydrolase 35 family.
genes like me logo Genes that share domains with GLB1L2: view

Function for GLB1L2 Gene

Enzyme Numbers (IUBMB) for GLB1L2 Gene

Phenotypes From GWAS Catalog for GLB1L2 Gene

Gene Ontology (GO) - Molecular Function for GLB1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004565 beta-galactosidase activity IBA 21873635
GO:0005515 protein binding IPI 32296183
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with GLB1L2: view
genes like me logo Genes that share phenotypes with GLB1L2: view

Animal Models for GLB1L2 Gene

MGI Knock Outs for GLB1L2:

Animal Models for research

  • Taconic Biosciences Mouse Models for GLB1L2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLB1L2

No data available for Molecular function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GLB1L2 Gene

Localization for GLB1L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLB1L2 Gene

Secreted.

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 GLB1L2 gene
Compartment Confidence
extracellular 3
nucleus 2
lysosome 2
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for GLB1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005773 vacuole IBA 21873635
genes like me logo Genes that share ontologies with GLB1L2: view

Pathways & Interactions for GLB1L2 Gene

PathCards logo

SuperPathways for GLB1L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GLB1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with GLB1L2: view

No data available for Pathways by source and SIGNOR curated interactions for GLB1L2 Gene

Drugs & Compounds for GLB1L2 Gene

No Compound Related Data Available

Transcripts for GLB1L2 Gene

mRNA/cDNA for GLB1L2 Gene

5 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 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 GLB1L2

Alternative Splicing Database (ASD) splice patterns (SP) for GLB1L2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20
SP1: - -
SP2: -
SP3:

Relevant External Links for GLB1L2 Gene

GeneLoc Exon Structure for
GLB1L2

Expression for GLB1L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLB1L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLB1L2 Gene

This gene is overexpressed in Colon - Sigmoid (x4.5), Uterus (x4.2), and Prostate (x4.0).

Protein differential expression in normal tissues from HIPED for GLB1L2 Gene

This gene is overexpressed in Lung (62.8) and Retina (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GLB1L2 Gene



Protein tissue co-expression partners for GLB1L2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLB1L2

SOURCE GeneReport for Unigene cluster for GLB1L2 Gene:

Hs.436178

Evidence on tissue expression from TISSUES for GLB1L2 Gene

  • Intestine(4.2)
  • Nervous system(2.3)
  • Eye(2)
genes like me logo Genes that share expression patterns with GLB1L2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GLB1L2 Gene

Orthologs for GLB1L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLB1L2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GLB1L2 30 31
  • 98.95 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GLB1L2 30 31
  • 84.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Glb1l2 30 17 31
  • 81.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Glb1l2 30
  • 81.21 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GLB1L2 31
  • 81 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia GLB1L2 30 31
  • 78.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 66 (a)
OneToMany
Chicken
(Gallus gallus)
Aves GLB1L2 30
  • 65.35 (n)
-- 31
  • 64 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 57 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia glb1l2 30
  • 59.52 (n)
African clawed frog
(Xenopus laevis)
Amphibia loc89944-prov 30
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-224e22.2 30
  • 59.5 (n)
GLB1L2 31
  • 53 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Ect3 31
  • 35 (a)
ManyToMany
Gal 31
  • 32 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea T19B10.3 31
  • 31 (a)
ManyToMany
H22K11.2 31
  • 29 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13288 30
Species where no ortholog for GLB1L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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 GLB1L2 Gene

ENSEMBL:
Gene Tree for GLB1L2 (if available)
TreeFam:
Gene Tree for GLB1L2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLB1L2: view image

Paralogs for GLB1L2 Gene

Paralogs for GLB1L2 Gene

(3) SIMAP similar genes for GLB1L2 Gene using alignment to 3 proteins:

  • GLBL2_HUMAN
  • H0YCY4_HUMAN
  • H0YDY6_HUMAN
genes like me logo Genes that share paralogs with GLB1L2: view

Variants for GLB1L2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLB1L2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs114706954 Benign: not provided 134,332,098(+) A/G
NM_001370461.1(GLB1L2):c.37A>G (p.Thr13Ala)
MISSENSE
rs200143727 Likely Benign: not provided 134,374,596(+) T/G
NM_001370461.1(GLB1L2):c.1708-6T>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GLB1L2 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 GLB1L2 Gene

Variant ID Type Subtype PubMed ID
dgv1302n100 CNV loss 25217958
dgv1303n100 CNV gain+loss 25217958
dgv1304n100 CNV gain 25217958
dgv1305n100 CNV gain 25217958
dgv1306n100 CNV gain 25217958
dgv170n27 CNV gain 19166990
dgv171n27 CNV loss 19166990
dgv2204n54 CNV gain+loss 21841781
dgv2205n54 CNV loss 21841781
dgv4e196 CNV duplication 17116639
dgv59n111 CNV duplication 26073780
esv1006179 CNV insertion 20482838
esv1009565 CNV deletion 20482838
esv1324855 CNV insertion 17803354
esv1724782 CNV deletion 17803354
esv2475970 CNV deletion 19546169
esv2674216 CNV deletion 23128226
esv2745325 CNV deletion 23290073
esv2745327 CNV deletion 23290073
esv2745328 CNV deletion 23290073
esv2760555 CNV gain+loss 21179565
esv3580172 CNV gain 25503493
esv3628164 CNV loss 21293372
esv3628165 CNV gain 21293372
esv3628169 CNV gain 21293372
esv3628170 CNV gain 21293372
esv3892112 CNV gain+loss 25118596
esv3892113 CNV gain+loss 25118596
nsv1037294 CNV loss 25217958
nsv1051069 CNV gain 25217958
nsv1053071 CNV loss 25217958
nsv1110687 CNV insertion 24896259
nsv468901 CNV loss 19166990
nsv469992 CNV loss 18288195
nsv469993 CNV gain 18288195
nsv474537 CNV novel sequence insertion 20440878
nsv516459 CNV gain+loss 19592680
nsv521581 CNV gain 19592680
nsv521623 CNV gain 19592680
nsv524977 CNV loss 19592680
nsv556599 CNV loss 21841781
nsv556605 CNV gain 21841781
nsv556608 CNV gain 21841781
nsv561 CNV insertion 18451855
nsv826150 CNV gain 20364138
nsv832299 CNV loss 17160897
nsv952768 CNV deletion 24416366

Variation tolerance for GLB1L2 Gene

Residual Variation Intolerance Score: 77.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.03; 60.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLB1L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLB1L2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLB1L2 Gene

Disorders for GLB1L2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GLB1L2 Gene - From: COP

Disorder Aliases PubMed IDs
cleft palate, isolated
  • cpi
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GLB1L2

genes like me logo Genes that share disorders with GLB1L2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GLB1L2 Gene

Publications for GLB1L2 Gene

  1. 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) 2 3 4
  2. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. (PMID: 28986522) Antoniali G … Tell G (Nature communications 2017) 3

Products for GLB1L2 Gene

Sources for GLB1L2 Gene