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

Gene ID: 4033, updated on 7-Apr-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
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Genomic context

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Location:
12p12.1
Exon count:
43
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (24997575..25108335)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (24867671..24979246)
105.20220307 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. Clinical variability and probable founder effect in oculocutaneous albinism type 7. Bataille P, et al. Clin Genet, 2020 Mar. PMID 31694064
  5. A V141L polymorphism of the human LRMP gene is associated with survival of lung cancer patients. Manenti G, et al. Carcinogenesis, 2006 Jul. PMID 16410263

See all (30) 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)

Genotypes

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
  
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_2023_10

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

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