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    IRAG2 inositol 1,4,5-triphosphate receptor associated 2 [ Homo sapiens (human) ]

    Gene ID: 4033, updated on 18-Nov-2024

    Summary

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    Official Symbol
    IRAG2provided by HGNC
    Official Full Name
    inositol 1,4,5-triphosphate receptor associated 2provided by HGNC
    Primary source
    HGNC:HGNC:6690
    See related
    Ensembl:ENSG00000118308 MIM:602003; AllianceGenome:HGNC:6690
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JAW1; LRMP
    Summary
    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]
    Expression
    Biased expression in lymph node (RPKM 77.5), appendix (RPKM 26.1) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IRAG2 in Genome Data Viewer
    Location:
    12p12.1
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (24997575..25108335)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (24867671..24979246)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (25150509..25261269)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene brain protein I3 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6112 Neighboring gene long intergenic non-protein coding RNA 2909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6114 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26648 Neighboring gene centromere protein U pseudogene 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26664 Neighboring gene dynein axonemal intermediate chain 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:25288649-25289148 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:25321883-25322516 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:25323195-25323341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6115 Neighboring gene uncharacterized LOC124902899 Neighboring gene electron transfer flavoprotein regulatory factor 1 Neighboring gene KRAS proto-oncogene, GTPase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Jaw1/LRMP is associated with the maintenance of Golgi ribbon structure. Okumura W, et al. J Biochem, 2023 Apr 26. PMID 36689741
    2. Jaw1/LRMP increases Ca(2+) influx upon GPCR stimulation with heterogeneous effect on the activity of each ITPR subtype. Okumura W, et al. Sci Rep, 2022 Jun 8. PMID 35676525, Free PMC Article
    3. Two novel routes of transporter associated with antigen processing (TAP)-independent major histocompatibility complex class I antigen processing. Snyder HL, et al. J Exp Med, 1997 Oct 6. PMID 9314557, Free PMC Article
    4. The crystal structure of SUN1-KASH6 reveals an asymmetric LINC complex architecture compatible with nuclear membrane insertion. Gurusaran M, et al. Commun Biol, 2024 Jan 30. PMID 38291267, Free PMC Article
    5. Clinical variability and probable founder effect in oculocutaneous albinism type 7. Bataille P, et al. Clin Genet, 2020 Mar. PMID 31694064

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Jaw1/LRMP is associated with the maintenance of Golgi ribbon structure.
      Title: Jaw1/LRMP is associated with the maintenance of Golgi ribbon structure.
    2. Jaw1/LRMP increases Ca(2+) influx upon GPCR stimulation with heterogeneous effect on the activity of each ITPR subtype.
      Title: Jaw1/LRMP increases Ca(2+) influx upon GPCR stimulation with heterogeneous effect on the activity of each ITPR subtype.
    3. Clinical variability and probable founder effect in oculocutaneous albinism type 7.
      Title: Clinical variability and probable founder effect in oculocutaneous albinism type 7.
    4. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association analysis identifies multiple loci related to resting heart rate.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: A gene-based risk score for lung cancer susceptibility in smokers and ex-smokers.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in immune system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleus organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle fusion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in vesicle targeting TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nuclear envelope ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    inositol 1,4,5-triphosphate receptor associated 2
    Names
    lymphoid restricted membrane protein
    protein Jaw1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001204126.2 → NP_001191055.1  inositol 1,4,5-triphosphate receptor associated 2 isoform a

      See identical proteins and their annotated locations for NP_001191055.1

      Status: REVIEWED

      Source sequence(s)
      AC023510, AW206014, BC144164, DB135324
      Consensus CDS
      CCDS8701.1
      UniProtKB/Swiss-Prot
      A0AVM2, B4E077, Q12912, Q8N301
      Related
      ENSP00000450246.1, ENST00000547044.5
      Conserved Domains (1) summary
      pfam05781
      Location:1 → 499
      MRVI1; MRVI1 protein

    2. NM_001204127.2 → NP_001191056.1  inositol 1,4,5-triphosphate receptor associated 2 isoform a

      See identical proteins and their annotated locations for NP_001191056.1

      Status: REVIEWED

      Source sequence(s)
      AC023510, AK303256, AW206014
      Consensus CDS
      CCDS8701.1
      UniProtKB/Swiss-Prot
      A0AVM2, B4E077, Q12912, Q8N301
      Related
      ENSP00000446496.1, ENST00000548766.5
      Conserved Domains (1) summary
      pfam05781
      Location:1 → 499
      MRVI1; MRVI1 protein

    3. NM_001366540.1 → NP_001353469.1  inositol 1,4,5-triphosphate receptor associated 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC023510
      Consensus CDS
      CCDS8701.1
      UniProtKB/Swiss-Prot
      A0AVM2, B4E077, Q12912, Q8N301
      Conserved Domains (1) summary
      pfam05781
      Location:1 → 499
      MRVI1; MRVI1 protein

    4. NM_001366541.2 → NP_001353470.1  inositol 1,4,5-triphosphate receptor associated 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC023510
      Consensus CDS
      CCDS8701.1
      UniProtKB/Swiss-Prot
      A0AVM2, B4E077, Q12912, Q8N301
      Related
      ENSP00000452116.2, ENST00000557489.6
      Conserved Domains (1) summary
      pfam05781
      Location:1 → 499
      MRVI1; MRVI1 protein

    5. NM_001366542.2 → NP_001353471.1  inositol 1,4,5-triphosphate receptor associated 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC023510
      Consensus CDS
      CCDS8701.1
      UniProtKB/Swiss-Prot
      A0AVM2, B4E077, Q12912, Q8N301
      Conserved Domains (1) summary
      pfam05781
      Location:1 → 499
      MRVI1; MRVI1 protein

    6. NM_001366543.2 → NP_001353472.1  inositol 1,4,5-triphosphate receptor associated 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC023510
      Consensus CDS
      CCDS8701.1
      UniProtKB/Swiss-Prot
      A0AVM2, B4E077, Q12912, Q8N301
      Conserved Domains (1) summary
      pfam05781
      Location:1 → 499
      MRVI1; MRVI1 protein

    7. NM_001366544.2 → NP_001353473.1  inositol 1,4,5-triphosphate receptor associated 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC023510
      Consensus CDS
      CCDS8701.1
      UniProtKB/Swiss-Prot
      A0AVM2, B4E077, Q12912, Q8N301
      Related
      ENSP00000451048.2, ENST00000556887.6
      Conserved Domains (1) summary
      pfam05781
      Location:1 → 499
      MRVI1; MRVI1 protein

    8. NM_001366545.2 → NP_001353474.1  inositol 1,4,5-triphosphate receptor associated 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC023510
      Consensus CDS
      CCDS8701.1
      UniProtKB/Swiss-Prot
      A0AVM2, B4E077, Q12912, Q8N301
      Conserved Domains (1) summary
      pfam05781
      Location:1 → 499
      MRVI1; MRVI1 protein

    9. NM_001366546.2 → NP_001353475.1  inositol 1,4,5-triphosphate receptor associated 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC023510
      Consensus CDS
      CCDS8701.1
      UniProtKB/Swiss-Prot
      A0AVM2, B4E077, Q12912, Q8N301
      Conserved Domains (1) summary
      pfam05781
      Location:1 → 499
      MRVI1; MRVI1 protein

    10. NM_001366547.2 → NP_001353476.1  inositol 1,4,5-triphosphate receptor associated 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC023510
      Consensus CDS
      CCDS8701.1
      UniProtKB/Swiss-Prot
      A0AVM2, B4E077, Q12912, Q8N301
      Conserved Domains (1) summary
      pfam05781
      Location:1 → 499
      MRVI1; MRVI1 protein

    11. NM_001366548.2 → NP_001353477.1  inositol 1,4,5-triphosphate receptor associated 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC023510
      Conserved Domains (1) summary
      pfam05781
      Location:1 → 425
      MRVI1; MRVI1 protein

    12. NM_001366549.2 → NP_001353478.1  inositol 1,4,5-triphosphate receptor associated 2 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC023510
      Consensus CDS
      CCDS91664.1
      UniProtKB/TrEMBL
      B4DZV0, F5H006
      Conserved Domains (1) summary
      pfam05781
      Location:1 → 446
      MRVI1; MRVI1 protein

    13. NM_001394803.1 → NP_001381732.1  inositol 1,4,5-triphosphate receptor associated 2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC023510
      UniProtKB/TrEMBL
      A0A1B0GU45
      Related
      ENSP00000489956.1, ENST00000636465.1
      Conserved Domains (2) summary
      COG4372
      Location:323 → 536
      COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
      TIGR02168
      Location:457 → 779
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    14. NM_006152.4 → NP_006143.2  inositol 1,4,5-triphosphate receptor associated 2 isoform a

      See identical proteins and their annotated locations for NP_006143.2

      Status: REVIEWED

      Source sequence(s)
      AC023510, AW206014, BC126417, DB135324
      Consensus CDS
      CCDS8701.1
      UniProtKB/Swiss-Prot
      A0AVM2, B4E077, Q12912, Q8N301
      Related
      ENSP00000346442.3, ENST00000354454.7
      Conserved Domains (1) summary
      pfam05781
      Location:1 → 499
      MRVI1; MRVI1 protein

    RNA

    1. NR_159366.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC023510

    2. NR_159367.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC023510
      Related
      ENST00000361433.6

    3. NR_159368.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC023510

    4. NR_159369.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC023510

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      24997575..25108335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428840.1 → XP_047284796.1  inositol 1,4,5-triphosphate receptor associated 2 isoform X1

    2. XM_047428842.1 → XP_047284798.1  inositol 1,4,5-triphosphate receptor associated 2 isoform X2

      UniProtKB/TrEMBL
      F5H006

    3. XM_047428841.1 → XP_047284797.1  inositol 1,4,5-triphosphate receptor associated 2 isoform X2

      UniProtKB/TrEMBL
      F5H006
      Related
      ENSP00000444056.1, ENST00000536173.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      24867671..24979246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372049.1 → XP_054228024.1  inositol 1,4,5-triphosphate receptor associated 2 isoform X1

    2. XM_054372050.1 → XP_054228025.1  inositol 1,4,5-triphosphate receptor associated 2 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001321724.3: Suppressed sequence

      Description
      NM_001321724.3: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q12912.3 GenPept UniProtKB/Swiss-Prot:Q12912

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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