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Aliases for ITGBL1 Gene

Aliases for ITGBL1 Gene

  • Integrin Subunit Beta Like 1 2 3 5
  • Ten Integrin EGF-Like Repeat Domain-Containing Protein 3 4
  • Integrin, Beta-Like 1 (With EGF-Like Repeat Domains) 2 3
  • Osteoblast-Specific Cysteine-Rich Protein 3 4
  • OSCP 3 4
  • TIED 3 4
  • Ten Integrin EGF-Like Repeat Domains Protein 2
  • Integrin Beta-Like Protein 1 3
  • ITGBL1, Integrin Beta-Like 1 2
  • Integrin Beta Like 1 3

External Ids for ITGBL1 Gene

Previous GeneCards Identifiers for ITGBL1 Gene

  • GC13P100464
  • GC13P096492
  • GC13P100941
  • GC13P099802
  • GC13P100902
  • GC13P102104
  • GC13P082698

Summaries for ITGBL1 Gene

Entrez Gene Summary for ITGBL1 Gene

  • This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

GeneCards Summary for ITGBL1 Gene

ITGBL1 (Integrin Subunit Beta Like 1) is a Protein Coding gene. Diseases associated with ITGBL1 include Corneal Dystrophy, Posterior Polymorphous, 1. An important paralog of this gene is ITGB6.

Additional gene information for ITGBL1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGBL1 Gene

Genomics for ITGBL1 Gene

GeneHancer (GH) Regulatory Elements for ITGBL1 Gene

Promoters and enhancers for ITGBL1 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
GH13J101448 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 660.5 +0.6 610 9.4 CTCF MXI1 USF1 JUN MAX SIN3A RAD21 RFX5 POLR2A PATZ1 ITGBL1 NALCN HMGB3P7 FGF14 GC13M101537 GC13P101298 GC13P101277 GC13P101276
GH13J101425 Promoter 0.6 EPDnew 660.9 -26.8 -26772 0.1 SPI1 ITGBL1 NALCN GC13P101446 GC13P101330 GC13P101328 GC13P101298 GC13P101276 GC13P101277
GH13J101492 Enhancer 0.3 ENCODE 15.9 +40.5 40462 1.8 ZNF146 ITGBL1 RNU1-24P GC13M101537 GC13P101298 GC13P101276 GC13P101277
GH13J101512 Enhancer 0.4 ENCODE 10.8 +60.2 60223 1.4 JUND POLR2A ITGBL1 FGF14 GC13M101537 GC13P101298 GC13P101276 GC13P101277
GH13J101397 Enhancer 0.4 ENCODE 9.9 -54.0 -53999 2.4 JUND POLR2A FOS ITGBL1 NALCN GC13P101326 GC13P101328 GC13P101329 GC13P101330 GC13P101298 GC13P101299 GC13P101278 GC13P101279
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITGBL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ITGBL1 gene promoter:
  • HEN1
  • AREB6
  • Sp1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • N-Myc
  • ZID

Genomic Locations for ITGBL1 Gene

Genomic Locations for ITGBL1 Gene
268,265 bases
Plus strand
270,491 bases
Plus strand

Genomic View for ITGBL1 Gene

Genes around ITGBL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGBL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGBL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGBL1 Gene

Proteins for ITGBL1 Gene

  • Protein details for ITGBL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Integrin beta-like protein 1
    Protein Accession:
    Secondary Accessions:
    • A8K5M5
    • B3KTP1
    • B4DQ02
    • Q8N172
    • Q9NPR0

    Protein attributes for ITGBL1 Gene

    494 amino acids
    Molecular mass:
    53921 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ITGBL1 Gene


neXtProt entry for ITGBL1 Gene

Post-translational modifications for ITGBL1 Gene

  • Glycosylation at Asn405
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ITGBL1 Gene

Domains & Families for ITGBL1 Gene

Gene Families for ITGBL1 Gene

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

Protein Domains for ITGBL1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains ten tandem EGF-like repeats strikingly similar to those found in the cysteine rich stalk-like structure of integrin beta-subunits.
  • Contains ten tandem EGF-like repeats strikingly similar to those found in the cysteine rich stalk-like structure of integrin beta-subunits.
genes like me logo Genes that share domains with ITGBL1: view

Function for ITGBL1 Gene

Molecular function for ITGBL1 Gene

GENATLAS Biochemistry:
integrin beta-like 1,expressed in aorta,thymus and osteogenic sarcoma

Phenotypes From GWAS Catalog for ITGBL1 Gene

genes like me logo Genes that share phenotypes with ITGBL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ITGBL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ITGBL1 Gene

Localization for ITGBL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGBL1 Gene


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 ITGBL1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ITGBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with ITGBL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ITGBL1 Gene

Pathways & Interactions for ITGBL1 Gene

SuperPathways for ITGBL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ITGBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 10051402
GO:0007229 integrin-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with ITGBL1: view

No data available for Pathways by source and SIGNOR curated interactions for ITGBL1 Gene

Drugs & Compounds for ITGBL1 Gene

No Compound Related Data Available

Transcripts for ITGBL1 Gene

Unigene Clusters for ITGBL1 Gene

Integrin, beta-like 1 (with EGF-like repeat domains):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITGBL1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13
SP3: -
SP4: - -

Relevant External Links for ITGBL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ITGBL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITGBL1 Gene

mRNA differential expression in normal tissues according to GTEx for ITGBL1 Gene

This gene is overexpressed in Artery - Aorta (x10.5) and Artery - Tibial (x6.0).

NURSA nuclear receptor signaling pathways regulating expression of ITGBL1 Gene:


SOURCE GeneReport for Unigene cluster for ITGBL1 Gene:


mRNA Expression by UniProt/SwissProt for ITGBL1 Gene:

Tissue specificity: Widely expressed in many tissues, but readily detectable only in aorta.

Evidence on tissue expression from TISSUES for ITGBL1 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with ITGBL1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGBL1 Gene

Orthologs for ITGBL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGBL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ITGBL1 34 33
  • 99.73 (n)
(Canis familiaris)
Mammalia ITGBL1 34 33
  • 89.95 (n)
(Bos Taurus)
Mammalia ITGBL1 34 33
  • 88.46 (n)
(Rattus norvegicus)
Mammalia Itgbl1 33
  • 88.06 (n)
(Mus musculus)
Mammalia Itgbl1 16 34 33
  • 87.99 (n)
(Monodelphis domestica)
Mammalia ITGBL1 34
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia ITGBL1 34
  • 86 (a)
(Gallus gallus)
Aves ITGBL1 34 33
  • 79.36 (n)
(Anolis carolinensis)
Reptilia ITGBL1 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia itgbl1 33
  • 76.31 (n)
(Danio rerio)
Actinopterygii itgbl1 34 33
  • 67.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta betaInt-nu 34
  • 14 (a)
(Caenorhabditis elegans)
Secernentea C05D9.3 34
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 12 (a)
Species where no ortholog for ITGBL1 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)
  • 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 ITGBL1 Gene

Gene Tree for ITGBL1 (if available)
Gene Tree for ITGBL1 (if available)
Evolutionary constrained regions (ECRs) for ITGBL1: view image

Paralogs for ITGBL1 Gene

Paralogs for ITGBL1 Gene

(1) SIMAP similar genes for ITGBL1 Gene using alignment to 4 proteins:

  • B4DQ02_HUMAN
genes like me logo Genes that share paralogs with ITGBL1: view

Variants for ITGBL1 Gene

Sequence variations from dbSNP and Humsavar for ITGBL1 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1046197 benign, Spinocerebellar Ataxia, Dominant 101,721,219(+) C/A downstream_transcript_variant
rs141424596 likely-benign, Spinocerebellar Ataxia, Dominant 101,721,165(+) GAG/ downstream_transcript_variant
rs15608 benign, Spinocerebellar Ataxia, Dominant 101,721,213(+) A/C/T downstream_transcript_variant
rs529644559 likely-benign, Spinocerebellar Ataxia, Dominant 101,721,090(+) A/G downstream_transcript_variant
rs559888067 likely-benign, Spinocerebellar Ataxia, Dominant 101,720,942(+) AATCA/AATCAATCA downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ITGBL1 Gene

Variant ID Type Subtype PubMed ID
dgv579e212 CNV loss 25503493
esv2668867 CNV deletion 23128226
esv3633363 CNV loss 21293372
esv3633364 CNV loss 21293372
esv3633365 CNV loss 21293372
esv3892436 CNV loss 25118596
esv3892438 CNV loss 25118596
nsv1036644 CNV gain 25217958
nsv1043246 CNV loss 25217958
nsv1050933 CNV gain 25217958
nsv1052773 CNV loss 25217958
nsv1110224 CNV duplication 24896259
nsv1113598 CNV deletion 24896259
nsv1122860 CNV deletion 24896259
nsv1125578 CNV tandem duplication 24896259
nsv1138259 CNV deletion 24896259
nsv1151 CNV insertion 18451855
nsv456097 CNV loss 19166990
nsv478002 CNV novel sequence insertion 20440878
nsv510361 OTHER sequence alteration 20534489
nsv521536 CNV loss 19592680
nsv523777 CNV loss 19592680
nsv525759 CNV gain 19592680
nsv562976 CNV loss 21841781
nsv832701 CNV loss 17160897
nsv832702 CNV gain 17160897

Variation tolerance for ITGBL1 Gene

Residual Variation Intolerance Score: 17.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.07; 80.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITGBL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGBL1 Gene

Disorders for ITGBL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ITGBL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
corneal dystrophy, posterior polymorphous, 1
  • ppcd1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ITGBL1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ITGBL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITGBL1 Gene

Publications for ITGBL1 Gene

  1. Cloning and characterization of a novel beta integrin-related cDNA coding for the protein TIED ("ten beta integrin EGF-like repeat domains") that maps to chromosome band 13q33: A divergent stand-alone integrin stalk structure. (PMID: 10051402) Berg RW … Krissansen GW (Genomics 1999) 2 3 4 22 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. (PMID: 12364586) Chumakov I … Realson J (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 58

Products for ITGBL1 Gene

Sources for ITGBL1 Gene

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