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    ITPRIPL2 ITPRIP like 2 [ Homo sapiens (human) ]

    Gene ID: 162073, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ITPRIPL2provided by HGNC
    Official Full Name
    ITPRIP like 2provided by HGNC
    Primary source
    HGNC:HGNC:27257
    See related
    Ensembl:ENSG00000205730 AllianceGenome:HGNC:27257
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    D1C
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in skin (RPKM 11.3), fat (RPKM 11.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ITPRIPL2 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (19113964..19121629)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (19044805..19052471)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (19125286..19132951)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10523 Neighboring gene COQ7 divergent transcript Neighboring gene coenzyme Q7, hydroxylase Neighboring gene uncharacterized LOC124903656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10525 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19117151-19118009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7242 Neighboring gene uncharacterized LOC124903657 Neighboring gene Sharpr-MPRA regulatory region 12181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7243 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19179399-19180146 Neighboring gene uncharacterized LOC124903658 Neighboring gene synaptotagmin 17

    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. A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export. van den Boomen DJH, et al. Nat Commun, 2020 Nov 3. PMID 33144569, Free PMC Article
    2. Multilevel proteomics reveals host perturbations by SARS-CoV-2 and SARS-CoV. Stukalov A, et al. Nature, 2021 Jun. PMID 33845483
    3. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35748872, Free PMC Article
    4. ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1. Simonetti B, et al. Proc Natl Acad Sci U S A, 2022 Jun 21. PMID 35696571, Free PMC Article
    5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Clone Names

    • FLJ22994, MGC126798, MGC126800

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    inositol 1,4,5-trisphosphate receptor-interacting protein-like 2
    Names
    DANGER family member 1C
    inositol 1,4,5-triphosphate receptor-interacting protein-like 2
    inositol 1,4,5-trisphosphate receptor interacting protein like 2

    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_001034841.4 → NP_001030013.1  inositol 1,4,5-trisphosphate receptor-interacting protein-like 2 precursor

      See identical proteins and their annotated locations for NP_001030013.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AC099518
      Consensus CDS
      CCDS32395.1
      UniProtKB/Swiss-Prot
      Q3MIP1
      Related
      ENSP00000370849.3, ENST00000381440.5
      Conserved Domains (1) summary
      pfam03281
      Location:163 → 453
      Mab-21; Mab-21 protein

    RNA

    1. NR_028028.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal segment, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC099518, AK096327, BG116542

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      19113964..19121629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      19044805..19052471
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3MIP1.1 GenPept UniProtKB/Swiss-Prot:Q3MIP1

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools