The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008] See more...

Aliases for IRAG2 Gene

Aliases for IRAG2 Gene

  • Inositol 1,4,5-Triphosphate Receptor Associated 2 2 3 4
  • Lymphoid Restricted Membrane Protein 2 3 5
  • JAW1 2 3 4
  • LRMP 3 4 5
  • Lymphoid-Restricted Membrane Protein 2 4
  • Protein Jaw1 3 4

External Ids for IRAG2 Gene

Previous HGNC Symbols for IRAG2 Gene

  • LRMP

Summaries for IRAG2 Gene

Entrez Gene Summary for IRAG2 Gene

  • The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

GeneCards Summary for IRAG2 Gene

IRAG2 (Inositol 1,4,5-Triphosphate Receptor Associated 2) is a Protein Coding gene. Diseases associated with IRAG2 include Respiratory System Benign Neoplasm and Lung Adenoma. Among its related pathways are Innate Immune System. An important paralog of this gene is IRAG1.

UniProtKB/Swiss-Prot Summary for IRAG2 Gene

  • Plays a role in the delivery of peptides to major histocompatibility complex (MHC) class I molecules; this occurs in a transporter associated with antigen processing (TAP)-independent manner. May play a role in taste signal transduction via ITPR3. May play a role during fertilization in pronucleus congression and fusion. Plays a role in maintaining nuclear shape, maybe as a component of the LINC complex and through interaction with microtubules.

Additional gene information for IRAG2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IRAG2 Gene

Genomics for IRAG2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IRAG2 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
GH12J025050 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 622.8 +49.6 49576 6.6 SP1 POLR2A LARP7 STAT3 JUND PKNOX1 SMAD5 TCF12 IKZF2 RCOR1 IRAG2 CFAP94 ETFRF1 C12orf77 KRAS piR-61945-093 NONHSAG010702.2 LOC645177
GH12J025004 Enhancer 0.8 Ensembl ENCODE 600.7 +1.2 1184 1.3 IKZF2 POLR2A ARID3A PAX8 DPF2 RUNX3 ZNF592 ARNT ELF1 IKZF1 C12orf77 IRAG2 BCAT1 LOC645177
GH12J025005 Enhancer 0.4 Ensembl 600.7 +0.3 259 0.4 EBF1 TBP TBL1XR1 C12orf77 IRAG2 BCAT1 LOC645177
GH12J024995 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 11.1 -7.0 -7029 4.2 RNF2 BACH1 STAT3 JUND ZNF143 RELA SMAD5 TCF12 IKZF2 RCOR1 LOC645177 C12orf77 IRAG2 piR-56759-108 BCAT1
GH12J025057 Enhancer 1 FANTOM5 ENCODE dbSUPER 9 +54.5 54454 1.6 JUND TCF12 IKZF2 POLR2A EED RUNX3 BCL11A JUNB IRF4 BATF IRAG2 C12orf77 CFAP94 piR-61945-093 NONHSAG010702.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IRAG2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IRAG2

Genomic Locations for IRAG2 Gene

Genomic Locations for IRAG2 Gene
chr12:25,004,342-25,108,335
(GRCh38/hg38)
Size:
103,994 bases
Orientation:
Plus strand
chr12:25,173,936-25,261,269
(GRCh37/hg19)
Size:
87,334 bases
Orientation:
Plus strand

Genomic View for IRAG2 Gene

Genes around IRAG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRAG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRAG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRAG2 Gene

Proteins for IRAG2 Gene

  • Protein details for IRAG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12912-IRAG2_HUMAN
    Recommended name:
    Inositol 1,4,5-triphosphate receptor associated 2
    Protein Accession:
    Q12912
    Secondary Accessions:
    • A0AVM2
    • B4E077
    • Q8N301

    Protein attributes for IRAG2 Gene

    Size:
    555 amino acids
    Molecular mass:
    62122 Da
    Quaternary structure:
    • Interacts (via coiled-coil domain) with ITPR3. Interacts with SUN1 and SUN2. Interacts with microtubules.
    SequenceCaution:
    • Sequence=AAH29391.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAI26418.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for IRAG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IRAG2 Gene

Post-translational modifications for IRAG2 Gene

  • The removal of the C-terminal lumenal domain occurs by proteolytic processing.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IRAG2 Gene

Domains & Families for IRAG2 Gene

Gene Families for IRAG2 Gene

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

Protein Domains for IRAG2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IRAG2 Gene

GenScript: Design optimal peptide antigens:
  • Protein Jaw1 (LRMP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q12912

UniProtKB/Swiss-Prot:

IRAG2_HUMAN :
  • Belongs to the IRAG2 family.
Family:
  • Belongs to the IRAG2 family.
genes like me logo Genes that share domains with IRAG2: view

Function for IRAG2 Gene

Molecular function for IRAG2 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the delivery of peptides to major histocompatibility complex (MHC) class I molecules; this occurs in a transporter associated with antigen processing (TAP)-independent manner. May play a role in taste signal transduction via ITPR3. May play a role during fertilization in pronucleus congression and fusion. Plays a role in maintaining nuclear shape, maybe as a component of the LINC complex and through interaction with microtubules.

Phenotypes From GWAS Catalog for IRAG2 Gene

Gene Ontology (GO) - Molecular Function for IRAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding ISS --
genes like me logo Genes that share ontologies with IRAG2: view
genes like me logo Genes that share phenotypes with IRAG2: view

Animal Models for IRAG2 Gene

MGI Knock Outs for IRAG2:
  • Lrmp Lrmp<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRAG2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for IRAG2 Gene

Localization for IRAG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IRAG2 Gene

[Processed inositol 1,4,5-triphosphate receptor associated 2]: Cytoplasm.
Endoplasmic reticulum membrane. Single-pass type IV membrane protein. Nucleus envelope. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Chromosome. Note=Colocalized with ITPR3 on the endoplasmic reticulum membrane. {ECO:0000250 UniProtKB:Q60664}.

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 IRAG2 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 4
endoplasmic reticulum 4
lysosome 4
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IRAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA,ISS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with IRAG2: view

Pathways & Interactions for IRAG2 Gene

PathCards logo

SuperPathways for IRAG2 Gene

genes like me logo Genes that share pathways with IRAG2: view

Pathways by source for IRAG2 Gene

3 Reactome pathways for IRAG2 Gene

Gene Ontology (GO) - Biological Process for IRAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006903 vesicle targeting TAS 8021504
GO:0006906 vesicle fusion TAS 8021504
GO:0006997 nucleus organization ISS --
GO:0007338 single fertilization IEA --
genes like me logo Genes that share ontologies with IRAG2: view

No data available for SIGNOR curated interactions for IRAG2 Gene

Drugs & Compounds for IRAG2 Gene

No Compound Related Data Available

Transcripts for IRAG2 Gene

mRNA/cDNA for IRAG2 Gene

13 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRAG2

Alternative Splicing Database (ASD) splice patterns (SP) for IRAG2 Gene

No ASD Table

Relevant External Links for IRAG2 Gene

GeneLoc Exon Structure for
IRAG2

Expression for IRAG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IRAG2

SOURCE GeneReport for Unigene cluster for IRAG2 Gene:

Hs.124922

mRNA Expression by UniProt/SwissProt for IRAG2 Gene:

Q12912-IRAG2_HUMAN
Tissue specificity: Expressed at high levels in pre B-cells, mature B-cells and pre T-cells. Expressed at low levels in mature T-cells and plasma B-cells. Expressed in germinal center B-cells, splenic marginal zone cells and B-cell lymphomas. Expressed in neuronal cells in the cerebral cortex, epithelial cells in tonsil, adrenal glands, zymogen-producing cells in the stomach and epithelial cells in seminal vesicles.

Evidence on tissue expression from TISSUES for IRAG2 Gene

  • Nervous system(4.3)
  • Liver(4.1)
  • Lymph node(2.8)
  • Blood(2.5)
  • Intestine(2.2)
  • Spleen(2.2)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with IRAG2: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , 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 IRAG2 Gene

Orthologs for IRAG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IRAG2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LRMP 30 31
  • 98.4 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LRMP 30 31
  • 89.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LRMP 30 31
  • 87.9 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lrmp 30 17 31
  • 74.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lrmp 30
  • 72.3 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 54 (a)
OneToMany
-- 31
  • 52 (a)
OneToMany
-- 31
  • 4 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia LRMP 31
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LRMP 30 31
  • 64.28 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 57 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lrmp 30
  • 61.88 (n)
Zebrafish
(Danio rerio)
Actinopterygii lrmp 30 31
  • 51.76 (n)
OneToOne
Species where no ortholog for IRAG2 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)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for IRAG2 Gene

ENSEMBL:
Gene Tree for IRAG2 (if available)
TreeFam:
Gene Tree for IRAG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IRAG2: view image

Paralogs for IRAG2 Gene

Paralogs for IRAG2 Gene

genes like me logo Genes that share paralogs with IRAG2: view

Variants for IRAG2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IRAG2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs1063159 - p.Leu241Trp
rs1908946 - p.Cys253Ser
rs6487451 - p.Thr94Ala
rs7969931 - p.Leu197Val

Additional dbSNP identifiers (rs#s) for IRAG2 Gene

Structural Variations from Database of Genomic Variants (DGV) for IRAG2 Gene

Variant ID Type Subtype PubMed ID
dgv2412n54 CNV gain 21841781
esv1073866 CNV insertion 17803354
esv1691407 CNV insertion 17803354
esv2422312 CNV duplication 17116639
esv2521669 CNV insertion 19546169
esv2759884 CNV loss 17122850
esv3892163 CNV loss 25118596
nsv469169 CNV gain 19166990
nsv469173 CNV gain 19166990
nsv52528 CNV deletion 16902084
nsv557775 CNV gain 21841781
nsv951340 CNV duplication 24416366

Variation tolerance for IRAG2 Gene

Residual Variation Intolerance Score: 61.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.73; 96.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IRAG2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IRAG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRAG2 Gene

Disorders for IRAG2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for IRAG2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
respiratory system benign neoplasm
lung adenoma
  • adenoma of lung
- elite association - COSMIC cancer census association via MalaCards
Search IRAG2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with IRAG2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IRAG2 Gene

Publications for IRAG2 Gene

  1. Jaw1, A lymphoid-restricted membrane protein localized to the endoplasmic reticulum. (PMID: 8021504) Behrens TW … Staudt LM (Journal of immunology (Baltimore, Md. : 1950) 1994) 2 3 4 23
  2. Jaw1/LRMP, a germinal centre-associated marker for the immunohistological study of B-cell lymphomas. (PMID: 16739114) Tedoldi S … Marafioti T (The Journal of pathology 2006) 4 23
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Carboxyl-terminal targeting and novel post-translational processing of JAW1, a lymphoid protein of the endoplasmic reticulum. (PMID: 8798562) Behrens TW … Staudt LM (The Journal of biological chemistry 1996) 3 23
  5. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. (PMID: 31452512) Pech MF … Settleman J (eLife 2019) 3

Products for IRAG2 Gene

Sources for IRAG2 Gene