ITGAL Gene (Protein Coding)

Integrin Subunit Alpha L

GC16P030472
GIFtS:
47
ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellu... See more...

Aliases for ITGAL Gene

Aliases for ITGAL Gene

  • Integrin Subunit Alpha L 2 3 5
  • Integrin, Alpha L (Antigen CD11A (P180), Lymphocyte Function-Associated Antigen 1; Alpha Polypeptide) 2 3
  • Lymphocyte Function-Associated Antigen 1, Alpha Polypeptide 2 3
  • Leukocyte Function-Associated Molecule 1 Alpha Chain 3 4
  • Leukocyte Adhesion Glycoprotein LFA-1 Alpha Chain 3 4
  • CD11 Antigen-Like Family Member A 3 4
  • Integrin Alpha-L 3 4
  • LFA-1A 3 4
  • CD11A 3 4
  • LFA-1 2 3
  • Antigen CD11A (P180), Lymphocyte Function-Associated Antigen 1, Alpha Polypeptide 3
  • Integrin Gene Promoter 3
  • Antigen CD11A (P180) 2
  • CD11a Antigen 4
  • LFA-1 Alpha 3
  • LFA1A 3
  • ITGAL 5

External Ids for ITGAL Gene

Previous HGNC Symbols for ITGAL Gene

  • CD11A

Previous GeneCards Identifiers for ITGAL Gene

  • GC16P029766
  • GC16P030972
  • GC16P030480
  • GC16P030520
  • GC16P030391
  • GC16P030483
  • GC16P028046

Summaries for ITGAL Gene

Entrez Gene Summary for ITGAL Gene

  • ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ITGAL Gene

ITGAL (Integrin Subunit Alpha L) is a Protein Coding gene. Diseases associated with ITGAL include Immune-Complex Glomerulonephritis and Chronic Venous Insufficiency. Among its related pathways are Integrin Pathway and Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and cell adhesion molecule binding. An important paralog of this gene is ITGAM.

UniProtKB/Swiss-Prot Summary for ITGAL Gene

  • Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrin ITGAL/ITGB2 is a receptor for F11R (PubMed:11812992, PubMed:15528364). Integin ITGAL/ITGB2 is a receptor for the secreted form of ubiquitin-like protein ISG15; the interaction is mediated by ITGAL (PubMed:29100055). Involved in a variety of immune phenomena including leukocyte-endothelial cell interaction, cytotoxic T-cell mediated killing, and antibody dependent killing by granulocytes and monocytes. Contributes to natural killer cell cytotoxicity (PubMed:15356110). Involved in leukocyte adhesion and transmigration of leukocytes including T-cells and neutrophils (PubMed:11812992). Required for generation of common lymphoid progenitor cells in bone marrow, indicating a role in lymphopoiesis (By similarity). Integrin ITGAL/ITGB2 in association with ICAM3, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590).

Gene Wiki entry for ITGAL Gene

Additional gene information for ITGAL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITGAL Gene

Genomics for ITGAL Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ITGAL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the ITGAL gene promoter:
  • AML1a

Genomic Locations for ITGAL Gene

Latest Assembly
chr16:30,472,658-30,523,567
(GRCh38/hg38)
Size:
50,910 bases
Orientation:
Plus strand

Previous Assembly
chr16:30,484,063-30,534,506
(GRCh37/hg19 by Entrez Gene)
Size:
50,444 bases
Orientation:
Plus strand

chr16:30,483,979-30,534,506
(GRCh37/hg19 by Ensembl)
Size:
50,528 bases
Orientation:
Plus strand

Genomic View for ITGAL Gene

Genes around ITGAL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ITGAL Gene

Proteins for ITGAL Gene

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

    Protein Symbol:
    P20701-ITAL_HUMAN
    Recommended name:
    Integrin alpha-L
    Protein Accession:
    P20701
    Secondary Accessions:
    • O43746
    • Q45H73
    • Q96HB1
    • Q9UBC8

    Protein attributes for ITGAL Gene

    Size:
    1170 amino acids
    Molecular mass:
    128770 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit (PubMed:12526797). The ITGAL alpha subunit associates with the ITGB2 beta subunit (PubMed:12526797). Interacts with THBD (PubMed:27055590).
    • (Microbial infection) Interacts with SARS-CoV Orf7a protein.

    Three dimensional structures from OCA and Proteopedia for ITGAL Gene

    Alternative splice isoforms for ITGAL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGAL Gene

Protein Expression for ITGAL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ITGAL Gene

  • In resting T-cells, up to 40% of surface ITGAL is constitutively phosphorylated. Phosphorylation causes conformational changes needed for ligand binding and is necessary for activation by some physiological agents.
  • Glycosylation at Asn65, Asn89, Asn188, Asn649, Asn670, Asn726, Asn730, Asn862, Asn885, Asn897, Asn1060, and Asn1071
  • Ubiquitination at Lys93, Lys321, Lys371, Lys416, Lys776, Lys831, Lys836, and Lys950
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for ITGAL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for ITGAL Gene

Domains & Families for ITGAL Gene

Gene Families for ITGAL Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ITGAL Gene

InterPro:
Blocks:
  • Von Willebrand factor type A domain signature
  • Integrins alpha chain
  • Integrin alpha chain, C-terminal cytoplasmic region
  • FG-GAP

Suggested Antigen Peptide Sequences for ITGAL Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56671, highly similar to Integrin alpha-L (B4DQ77_HUMAN)
  • cDNA FLJ57691, highly similar to Integrin alpha-L (B4E021_HUMAN)
  • Leukocyte function-associated molecule 1 alpha chain (ITAL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20701

UniProtKB/Swiss-Prot:

ITAL_HUMAN :
  • The integrin I-domain (insert) is a VWFA domain (PubMed:2537322). Integrins with I-domains do not undergo protease cleavage. The I-domain is necessary and sufficient for interaction with ICAM1 and F11R (PubMed:15528364).
  • Belongs to the integrin alpha chain family.
Domain:
  • The integrin I-domain (insert) is a VWFA domain (PubMed:2537322). Integrins with I-domains do not undergo protease cleavage. The I-domain is necessary and sufficient for interaction with ICAM1 and F11R (PubMed:15528364).
Family:
  • Belongs to the integrin alpha chain family.
genes like me logo Genes that share domains with ITGAL: view

Function for ITGAL Gene

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  6. Cell Lines for research

Molecular function for ITGAL Gene

UniProtKB/Swiss-Prot Function:
Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrin ITGAL/ITGB2 is a receptor for F11R (PubMed:11812992, PubMed:15528364). Integin ITGAL/ITGB2 is a receptor for the secreted form of ubiquitin-like protein ISG15; the interaction is mediated by ITGAL (PubMed:29100055). Involved in a variety of immune phenomena including leukocyte-endothelial cell interaction, cytotoxic T-cell mediated killing, and antibody dependent killing by granulocytes and monocytes. Contributes to natural killer cell cytotoxicity (PubMed:15356110). Involved in leukocyte adhesion and transmigration of leukocytes including T-cells and neutrophils (PubMed:11812992). Required for generation of common lymphoid progenitor cells in bone marrow, indicating a role in lymphopoiesis (By similarity). Integrin ITGAL/ITGB2 in association with ICAM3, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590).
GENATLAS Biochemistry:
integrin,alpha L,cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells,dimerizing with ITGB2 in ICAM1/ICAM2 receptor

Phenotypes From GWAS Catalog for ITGAL Gene

Gene Ontology (GO) - Molecular Function for ITGAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11544294
GO:0030369 ICAM-3 receptor activity IMP 19029120
GO:0044877 protein-containing complex binding IEA --
GO:0046872 metal ion binding IEA --
GO:0050839 cell adhesion molecule binding IPI 1448173
genes like me logo Genes that share ontologies with ITGAL: view
genes like me logo Genes that share phenotypes with ITGAL: view

Animal Models for ITGAL Gene

MGI Knock Outs for ITGAL:

Animal Models for research

Inhibitory RNAs for research

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

Clone products for research

  • Addgene plasmids for ITGAL

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITGAL Gene

Localization for ITGAL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGAL Gene

Cell membrane. Single-pass type I 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 ITGAL gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for ITGAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008305 integrin complex NAS 8103515
GO:0009986 cell surface IEA,IDA 19029120
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ITGAL: view

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

Pathways & Interactions for ITGAL Gene

PathCards logo

SuperPathways for ITGAL Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
PPAR Pathway
.66
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
Rap1 Pathway
.57
2 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
3 Integrin Pathway
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
UPA-UPAR Pathway
.56
Transendothelial Migration of Leukocytes
.38
4 Actin Nucleation by ARP-WASP Complex
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
CDC42 Pathway
.41
RhoA Pathway
.35
5 Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways
Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways
.80
Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways
.80
Leukocyte transendothelial migration
.44
genes like me logo Genes that share pathways with ITGAL: view

Pathways by source for ITGAL Gene

3 GeneGo (Thomson Reuters) pathways for ITGAL Gene
  • Cell adhesion Integrin inside-out signaling
  • Immune response_Role of integrins in NK cells cytotoxicity
  • Inhibitory action of Lipoxins on neutrophil migration
35 Qiagen pathways for ITGAL Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Agrin Interactions at Neuromuscular Junction
  • Akt Signaling

SIGNOR curated interactions for ITGAL Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ITGAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002291 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell IMP 2477710
GO:0006909 phagocytosis IEA --
GO:0006954 inflammatory response NAS 8103515
GO:0007155 cell adhesion NAS 8103515
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IMP 2477710
genes like me logo Genes that share ontologies with ITGAL: view

Drugs & Compounds for ITGAL Gene

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(72) Drugs for ITGAL Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Efalizumab Approved, Investigational Pharma Target, antibody 0
Lovastatin Approved, Investigational Pharma Target, inhibitory allosteric modulator HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 83
Simvastatin Approved Pharma Target, inhibitory allosteric modulator HMG-CoA reductase inhibitor 592
Antithymocyte immunoglobulin (rabbit) Approved Pharma Target 0
Lifitegrast Approved Pharma Target, antagonist 25

(36) Additional Compounds for ITGAL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for ITGAL Gene

Compound Action Cas Number
A 286982 LFA-1/ICAM-1 interaction inhibitor 280749-17-9
genes like me logo Genes that share compounds with ITGAL: view

Drug products for research

Transcripts for ITGAL Gene

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mRNA/cDNA for ITGAL Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
22 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 ITGAL

Clone products for research

  • Addgene plasmids for ITGAL

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a ·
SP1: - - -
SP2: - - - - - - -
SP3:
SP4: - - - - - -
SP5: -
SP6:
SP7:
SP8: -
SP9:

ExUns: 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:

Relevant External Links for ITGAL Gene

GeneLoc Exon Structure for
ITGAL

Expression for ITGAL Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for ITGAL Gene
mRNA expression by GTEx for ITGAL GenemRNA expression by BioGPS for ITGAL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x25.6) and Spleen (x7.2).

Protein differential expression in normal tissues from HIPED for ITGAL Gene

This gene is overexpressed in Lymph node (20.7), Tlymphocyte (13.6), Peripheral blood mononuclear cells (8.2), CD8 Tcells (7.4), and NK cells (7.3).

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



Protein tissue co-expression partners for ITGAL Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for ITGAL Gene:

Hs.174103

mRNA Expression by UniProt/SwissProt for ITGAL Gene:

P20701-ITAL_HUMAN
Tissue specificity: Leukocytes.

Evidence on tissue expression from TISSUES for ITGAL Gene

  • Blood(3.4)
  • Spleen(3.3)
  • Lymph node(3.3)
  • Bone marrow(3)
  • Intestine(2.8)
  • Heart(2.8)
  • Lung(2.6)
  • Liver(2.3)
  • Skin(2.2)
  • Muscle(2.2)
  • Kidney(2.2)
  • Nervous system(2.1)
  • Eye(2)
genes like me logo Genes that share expression patterns with ITGAL: view

Primer products for research

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

Orthologs for ITGAL Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITGAL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ITGAL 29 30
  • 99.29 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ITGAL 29 30
  • 83.36 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ITGAL 29 30
  • 82.66 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Itgal 29
  • 78.28 (n)
Mouse
(Mus musculus)
 Mammalia Itgal 29 16 30
  • 77.86 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ITGAL 30
  • 59 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ITGAL 30
  • 58 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ITGAL 30
  • 41 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii zmp:0000001082 29
  • 48.58 (n)
ITGAL 30
  • 30 (a)
 OneToOne
Species where no ortholog for ITGAL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ITGAL Gene

ENSEMBL:
Gene Tree for ITGAL (if available)
TreeFam:
Gene Tree for ITGAL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ITGAL: view image
Alliance of Genome Resources:
Additional Orthologs for ITGAL

Paralogs for ITGAL Gene

Paralogs for ITGAL Gene

(3) SIMAP similar genes for ITGAL Gene using alignment to 9 proteins:

  • ITAL_HUMAN
  • B4DQ77_HUMAN
  • B4E021_HUMAN
  • H3BNL5_HUMAN
  • H3BS37_HUMAN
  • H3BSV1_HUMAN
  • H3BUT3_HUMAN
  • I3L1D1_HUMAN
  • I3L468_HUMAN
genes like me logo Genes that share paralogs with ITGAL: view

Variants for ITGAL Gene

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

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs11574942 Benign: not provided 30,489,160(+) G/A
NM_002209.3(ITGAL):c.1080+5G>A 		INTRON
rs11574950 Benign: not provided 30,521,608(+) C/T
NM_002209.3(ITGAL):c.3456C>T (p.Pro1152=) 		SYNONYMOUS
rs3087437 Benign: not provided 30,489,395(+) T/G
NM_002209.3(ITGAL):c.1213+9T>G 		INTRON
rs34166708 Benign: not provided 30,479,194(+) G/Ap.Arg144His
NM_002209.3(ITGAL):c.431G>A (p.Arg144His) 		MISSENSE_VARIANT,INTRON
rs59353760 Benign: not provided 30,517,822(+) G/A
NM_002209.3(ITGAL):c.3059G>A (p.Arg1020His) 		MISSENSE

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

Variant ID Type Subtype PubMed ID
nsv1116127 CNV deletion 24896259
nsv1127486 CNV deletion 24896259
nsv1783 CNV deletion 18451855
nsv1784 CNV insertion 18451855

Variation tolerance for ITGAL Gene

Residual Variation Intolerance Score: 3.53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.16; 84.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITGAL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGAL
Leiden Open Variation Database (LOVD)
ITGAL

SNP Genotyping and Copy Number Assays for research

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

Disorders for ITGAL Gene

MalaCards: The human disease database

(49) MalaCards diseases for ITGAL Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search ITGAL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ITGAL

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ITGAL: view

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

Publications for ITGAL Gene

  1. Structural basis for LFA-1 inhibition upon lovastatin binding to the CD11a I-domain. (PMID: 10493852) Kallen J … Hommel U (Journal of molecular biology 1999) 3 4 22 25
  2. Haplotype analysis of the CD11 gene cluster in patients with chronic Helicobacter pylori infection and gastric ulcer disease. (PMID: 15730520) Hellmig S … Schreiber S (Tissue antigens 2005) 3 22 40
  3. Characterization of the CD11a (alpha L, LFA-1 alpha) integrin gene promoter. (PMID: 8103515) Nueda A … Corbí AL (The Journal of biological chemistry 1993) 3 4 22
  4. Description of the leukocyte function-associated antigen 1 (LFA-1 or CD11a) promoter. (PMID: 8097887) Cornwell RD … Hickstein DD (Proceedings of the National Academy of Sciences of the United States of America 1993) 3 4 22
  5. Identification of cell-specific and developmentally regulated nuclear factors that direct myeloid and lymphoid expression of the CD11a gene. (PMID: 8099450) Shelley CS … Arnaout MA (Proceedings of the National Academy of Sciences of the United States of America 1993) 3 4 22

ExternalLinks

View latest publications for ITGAL gene in Mastermind

Products for ITGAL Gene

  • Addgene plasmids for ITGAL

Sources for ITGAL Gene