This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X ge... See more...

Aliases for ITGAD Gene

Aliases for ITGAD Gene

  • Integrin Subunit Alpha D 2 3 5
  • ADB2 2 3 4
  • CD11 Antigen-Like Family Member D 3 4
  • Leukointegrin Alpha D 3 4
  • Integrin Alpha-D 3 4
  • Beta-2 Integrin AlphaD Subunit 3
  • Integrin, Alpha D 2
  • CD11d Antigen 4
  • CD11D 3
  • ITGAD 5
  • CD11d 2

External Ids for ITGAD Gene

Previous GeneCards Identifiers for ITGAD Gene

  • GC16U990033
  • GC16P031901
  • GC16P031401
  • GC16P031440
  • GC16P031312
  • GC16P031405
  • GC16P028964
  • GC16P031437
  • GC16P031573
  • GC16P031707

Summaries for ITGAD Gene

Entrez Gene Summary for ITGAD Gene

  • This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for ITGAD Gene

ITGAD (Integrin Subunit Alpha D) is a Protein Coding gene. Diseases associated with ITGAD include Chronic Monocytic Leukemia and Leukocyte Adhesion Deficiency, Type I. Among its related pathways are Integrin Pathway and Agrin Interactions at Neuromuscular Junction. An important paralog of this gene is ITGAX.

UniProtKB/Swiss-Prot Summary for ITGAD Gene

  • Integrin alpha-D/beta-2 is a receptor for ICAM3 and VCAM1. May play a role in the atherosclerotic process such as clearing lipoproteins from plaques and in phagocytosis of blood-borne pathogens, particulate matter, and senescent erythrocytes from the blood.

Gene Wiki entry for ITGAD Gene

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

Genomics for ITGAD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ITGAD 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
GH16J031393 Promoter 0.7 EPDnew 270.1 +0.0 16 0.1 ZIC2 ZNF189 GLIS1 KLF1 IKZF1 OSR2 ZNF687 IKZF2 MTA2 ITGAD ENSG00000260757 HSALNG0110858 COX6A2
GH16J031507 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 5.2 +115.4 115375 3.6 BCLAF1 SP1 ZNF207 MYC NCOR1 IKZF1 SSRP1 ZNF592 ATF2 KLF9 RUSF1 ENSG00000260625 piR-38471 lnc-ZNF843-3-002 SETD1A ZNF720 FUS SRCAP ZNF764 ZNF785
GH16J031382 Enhancer 1 Ensembl ENCODE 8 -7.8 -7823 6 BCLAF1 ZNF654 ZNF600 CEBPA ZIC2 CTCF REST CEBPB SIN3A TRIM22 lnc-ITGAX-5 SETD1A YBX3P1 ENSG00000260304 ITGAX COX6A2 PYCARD PYDC1 ARMC5 HSD3B7
GH16J031484 Promoter/Enhancer 1.3 Ensembl ENCODE 4.2 +91.6 91588 1.7 SSRP1 KLF9 MXD4 KLF11 SMAD4 ZNF511 SAP130 ETV4 MIER3 RARA HSALNG0110870 ENSG00000260740 ZNF843 ITGAD SLC5A2 RUSF1
GH16J031413 Enhancer 0.6 Ensembl 4.9 +21.2 21178 2.8 CUX1 YBX1 MCM7 HDAC2 GMEB1 ZNF366 EGR2 DACH1 ZBTB17 RUNX3 HSALNG0110860 TGFB1I1 ITGAD ENSG00000261474 COX6A2 HSALNG0110858
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the ITGAD gene promoter:
  • AhR
  • Arnt
  • CUTL1
  • Elk-1
  • ER-alpha
  • Ik-3
  • LCR-F1
  • p53
  • Pax-4a
  • RP58

Genomic Locations for ITGAD Gene

Latest Assembly
chr16:31,393,223-31,426,513
(GRCh38/hg38)
Size:
33,291 bases
Orientation:
Plus strand

Previous Assembly
chr16:31,404,656-31,437,826
(GRCh37/hg19 by Entrez Gene)
Size:
33,171 bases
Orientation:
Plus strand

chr16:31,404,633-31,437,826
(GRCh37/hg19 by Ensembl)
Size:
33,194 bases
Orientation:
Plus strand

Genomic View for ITGAD Gene

Genes around ITGAD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ITGAD Gene

Proteins for ITGAD Gene

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

    Protein Symbol:
    Q13349-ITAD_HUMAN
    Recommended name:
    Integrin alpha-D
    Protein Accession:
    Q13349
    Secondary Accessions:
    • Q15575
    • Q15576

    Protein attributes for ITGAD Gene

    Size:
    1161 amino acids
    Molecular mass:
    126758 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. Alpha-D associates with beta-2.
    SequenceCaution:
    • Sequence=AAB60634.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

neXtProt entry for ITGAD Gene

Post-translational modifications for ITGAD Gene

  • Glycosylation at Asn59, Asn87, Asn99, Asn391, Asn690, Asn732, Asn872, Asn956, and Asn1045
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ITGAD Gene

Domains & Families for ITGAD Gene

Gene Families for ITGAD Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted membrane proteins

Protein Domains for ITGAD 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 ITGAD Gene

GenScript: Design optimal peptide antigens:
  • Leukointegrin alpha D (ITAD_HUMAN)
  • cDNA FLJ39841 fis, clone SPLEN2014210, moderately similar to Rattus norvegicus alpha D integrin mRNA (Q8N882_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13349

UniProtKB/Swiss-Prot:

ITAD_HUMAN :
  • The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.
  • Belongs to the integrin alpha chain family.
Domain:
  • The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.
Family:
  • Belongs to the integrin alpha chain family.
genes like me logo Genes that share domains with ITGAD: view

Function for ITGAD Gene

Molecular function for ITGAD Gene

UniProtKB/Swiss-Prot Function:
Integrin alpha-D/beta-2 is a receptor for ICAM3 and VCAM1. May play a role in the atherosclerotic process such as clearing lipoproteins from plaques and in phagocytosis of blood-borne pathogens, particulate matter, and senescent erythrocytes from the blood.
GENATLAS Biochemistry:
integrin,alpha D,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,arrayed in tandem with ITGAX (CD11C),dimerizing with ITGB2 in fibrinogen,C3b receptor

Phenotypes From GWAS Catalog for ITGAD Gene

Gene Ontology (GO) - Molecular Function for ITGAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ITGAD: view
genes like me logo Genes that share phenotypes with ITGAD: view

Animal Models for ITGAD Gene

MGI Knock Outs for ITGAD:

Inhibitory RNAs for research

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

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

Localization for ITGAD Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGAD Gene

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 ITGAD gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ITGAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008305 integrin complex TAS 20187620
GO:0009986 cell surface IC 20563599
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ITGAD: view

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

Pathways & Interactions for ITGAD Gene

PathCards logo

SuperPathways for ITGAD Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.66
.65
.64
.62
.57
2 ERK Signaling
.61
.61
.58
.51
.49
3 Integrin Pathway
.67
.67
.56
.56
.38
4 Actin Nucleation by ARP-WASP Complex
.66
.66
.41
.35
5 Focal Adhesion
.33
genes like me logo Genes that share pathways with ITGAD: view

Pathways by source for ITGAD Gene

1 KEGG pathway for ITGAD Gene
35 Qiagen pathways for ITGAD 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

Gene Ontology (GO) - Biological Process for ITGAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response NAS 9841932
GO:0007155 cell adhesion IEA --
GO:0007229 integrin-mediated signaling pathway IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0034113 heterotypic cell-cell adhesion IMP 20563599
genes like me logo Genes that share ontologies with ITGAD: view

No data available for SIGNOR curated interactions for ITGAD Gene

Drugs & Compounds for ITGAD Gene

No Compound Related Data Available

Transcripts for ITGAD Gene

mRNA/cDNA for ITGAD Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 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 ITGAD

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: -
SP2: -
SP3: - - -

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b
SP1:
SP2:
SP3:

Relevant External Links for ITGAD Gene

GeneLoc Exon Structure for
ITGAD

Expression for ITGAD Gene

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

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

This gene is overexpressed in Spleen (x32.5) and Whole Blood (x7.1).

Protein differential expression in normal tissues from HIPED for ITGAD Gene

This gene is overexpressed in Blymphocyte (67.2).

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



Protein tissue co-expression partners for ITGAD Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for ITGAD Gene:

Hs.679163

mRNA Expression by UniProt/SwissProt for ITGAD Gene:

Q13349-ITAD_HUMAN
Tissue specificity: Expressed moderately on myelomonocytic cell lines and subsets of peripheral blood leukocytes and strongly on tissue-specialized cells, including macrophages foam cells within atherosclerotic plaques, and on splenic red pulp macrophages.

Evidence on tissue expression from TISSUES for ITGAD Gene

  • Spleen(4.5)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with ITGAD: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGAD Gene

Orthologs for ITGAD Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITGAD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ITGAD 29 30
  • 95.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ITGAD 29 30
  • 84.09 (n)
OneToMany
-- 30
  • 77 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia ITGAD 29 30
  • 82.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Itgad 29
  • 79.72 (n)
Mouse
(Mus musculus)
Mammalia Itgad 29 16 30
  • 79.47 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 60 (a)
ManyToMany
-- 30
  • 59 (a)
ManyToMany
-- 30
  • 57 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 55 (a)
ManyToMany
-- 30
  • 54 (a)
ManyToMany
-- 30
  • 53 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 46 (a)
ManyToMany
-- 30
  • 45 (a)
ManyToMany
-- 30
  • 44 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-32n7.4 30
  • 36 (a)
ManyToMany
Species where no ortholog for ITGAD 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 ITGAD Gene

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

Paralogs for ITGAD Gene

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

  • ITAD_HUMAN
genes like me logo Genes that share paralogs with ITGAD: view

Variants for ITGAD Gene

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

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs193921125 Uncertain Significance: Malignant tumor of prostate 31,423,169(+) A/C
NM_005353.3(ITGAD):c.2836A>C (p.Lys946Gln)
MISSENSE

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

Variant ID Type Subtype PubMed ID
dgv503e214 CNV gain 21293372
esv25470 CNV gain 19812545
esv2714194 CNV deletion 23290073
esv3638398 CNV gain 21293372
esv3638399 CNV loss 21293372
esv3638400 CNV loss 21293372
nsv1059610 CNV gain 25217958
nsv1061980 CNV gain 25217958
nsv1066280 CNV gain 25217958
nsv833194 CNV loss 17160897
nsv953804 CNV deletion 24416366

Variation tolerance for ITGAD Gene

Residual Variation Intolerance Score: 96.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.20; 52.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITGAD Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for ITGAD Gene

MalaCards: The human disease database

(4) MalaCards diseases for ITGAD Gene - From: COP

Disorder Aliases PubMed IDs
chronic monocytic leukemia
  • leukemia, myeloid
leukocyte adhesion deficiency, type i
  • lad
leukocyte adhesion deficiency, type iii
  • lad3
combined immunodeficiency
  • combined t cell and b cell immunodeficiency
- elite association - COSMIC cancer census association via MalaCards
Search ITGAD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ITGAD

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

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

Publications for ITGAD Gene

  1. Mapping of the human CD11c (ITGAX) and CD11d (ITGAD) genes demonstrates that they are arranged in tandem separated by no more than 11.5 kb. (PMID: 9598326) Shelley CS … Arnaout MA (Genomics 1998) 2 3 22
  2. Cloning and chromosomal localization of a novel gene-encoding a human beta 2-integrin alpha subunit. (PMID: 8666289) Wong DA … Springer TA (Gene 1996) 2 3 4
  3. Expression of the myeloid-specific leukocyte integrin gene CD11d during macrophage foam cell differentiation and exposure to lipoproteins. (PMID: 12429998) Noti JD (International journal of molecular medicine 2002) 3 22
  4. Structural and functional characterization of the leukocyte integrin gene CD11d. Essential role of Sp1 and Sp3. (PMID: 10722744) Noti JD … Dillon JD (The Journal of biological chemistry 2000) 3 4
  5. The leukocyte integrin alpha D beta 2 binds VCAM-1: evidence for a binding interface between I domain and VCAM-1. (PMID: 10438935) Van der Vieren M … Staunton DE (Journal of immunology (Baltimore, Md. : 1950) 1999) 3 4

Products for ITGAD Gene

Sources for ITGAD Gene