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    HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1 like 2 [ Homo sapiens (human) ]

    Gene ID: 144983, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HNRNPA1L2provided by HGNC
    Official Full Name
    heterogeneous nuclear ribonucleoprotein A1 like 2provided by HGNC
    Primary source
    HGNC:HGNC:27067
    See related
    Ensembl:ENSG00000139675 AllianceGenome:HGNC:27067
    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
    Summary
    Predicted to enable mRNA 3'-UTR binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in cytoplasm and nucleus. Predicted to be part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 119.2), bone marrow (RPKM 68.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See HNRNPA1L2 in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (52617525..52643773)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (51832997..51859241)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (53191660..53217908)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene cytoskeleton associated protein 2 Neighboring gene long intergenic non-protein coding RNA 345 Neighboring gene TPTE2 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 15313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7794 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:53226721-53227222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7795 Neighboring gene SUGT1 divergent transcript Neighboring gene SGT1 homolog, MIS12 kinetochore complex assembly cochaperone

    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. H3.3-G34W in giant cell tumor of bone functionally aligns with the exon choice repressor hnRNPA1L2. Lee E, et al. Cancer Gene Ther, 2024 Aug. PMID 38811797, Free PMC Article
    2. HTR1A Inhibits the Progression of Triple-Negative Breast Cancer via TGF-β Canonical and Noncanonical Pathways. Liu Q, et al. Adv Sci (Weinh), 2022 Apr. PMID 35199941, Free PMC Article
    3. SLFN11 Inactivation Induces Proteotoxic Stress and Sensitizes Cancer Cells to Ubiquitin Activating Enzyme Inhibitor TAK-243. Murai Y, et al. Cancer Res, 2021 Jun 1. PMID 33863777, Free PMC Article
    4. Mapping of functional SARS-CoV-2 receptors in human lungs establishes differences in variant binding and SLC1A5 as a viral entry modulator of hACE2. Miluzio A, et al. EBioMedicine, 2023 Jan. PMID 36584595, Free PMC Article
    5. Disruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations. Depreux FF, et al. Hum Mol Genet, 2015 Aug 1. PMID 25948554, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. H3.3-G34W in giant cell tumor of bone functionally aligns with the exon choice repressor hnRNPA1L2.
      Title: H3.3-G34W in giant cell tumor of bone functionally aligns with the exon choice repressor hnRNPA1L2.
    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

    Clone Names

    • MGC102957

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    heterogeneous nuclear ribonucleoprotein A1-like 2
    Names
    hnRNP A1-like 2
    hnRNP core protein A1-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_001011724.3 → NP_001011724.1  heterogeneous nuclear ribonucleoprotein A1-like 2

      See identical proteins and their annotated locations for NP_001011724.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK094423, AL137058, BX477483, CD523364
      Consensus CDS
      CCDS31980.1
      UniProtKB/Swiss-Prot
      Q32P51, Q5TBS2
      UniProtKB/TrEMBL
      Q0VAC0
      Conserved Domains (3) summary
      pfam11627
      Location:255 → 292
      HnRNPA1; Nuclear factor hnRNPA1
      cd12761
      Location:12 → 92
      RRM1_hnRNPA1; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) and similar proteins
      cl17169
      Location:105 → 184
      RRM_SF; RNA recognition motif (RRM) superfamily

    2. NM_001011725.3 → NP_001011725.1  heterogeneous nuclear ribonucleoprotein A1-like 2

      See identical proteins and their annotated locations for NP_001011725.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL137058, BQ425201, BX477483
      Consensus CDS
      CCDS31980.1
      UniProtKB/Swiss-Prot
      Q32P51, Q5TBS2
      UniProtKB/TrEMBL
      Q0VAC0
      Conserved Domains (3) summary
      pfam11627
      Location:255 → 292
      HnRNPA1; Nuclear factor hnRNPA1
      cd12761
      Location:12 → 92
      RRM1_hnRNPA1; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) and similar proteins
      cl17169
      Location:105 → 184
      RRM_SF; RNA recognition motif (RRM) superfamily

    3. NM_001389320.1 → NP_001376249.1  heterogeneous nuclear ribonucleoprotein A1-like 2

      Status: VALIDATED

      Source sequence(s)
      AL137058, BC108266
      Consensus CDS
      CCDS31980.1
      UniProtKB/Swiss-Prot
      Q32P51, Q5TBS2
      UniProtKB/TrEMBL
      Q0VAC0
      Related
      ENSP00000350090.2, ENST00000357495.5
      Conserved Domains (3) summary
      pfam11627
      Location:255 → 292
      HnRNPA1; Nuclear factor hnRNPA1
      cd12761
      Location:12 → 92
      RRM1_hnRNPA1; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) and similar proteins
      cl17169
      Location:105 → 184
      RRM_SF; RNA recognition motif (RRM) superfamily

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      52617525..52643773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      51832997..51859241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q32P51.2 GenPept UniProtKB/Swiss-Prot:Q32P51

    Gene LinkOut

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

    Chemical Information
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