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    SNX24 sorting nexin 24 [ Homo sapiens (human) ]

    Gene ID: 28966, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SNX24provided by HGNC
    Official Full Name
    sorting nexin 24provided by HGNC
    Primary source
    HGNC:HGNC:21533
    See related
    Ensembl:ENSG00000064652 AllianceGenome:HGNC:21533
    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
    SBBI31; PRO1284
    Summary
    Predicted to enable phosphatidylinositol phosphate binding activity. Predicted to be involved in protein transport. Predicted to be located in cytoplasmic vesicle membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 4.0), thyroid (RPKM 3.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SNX24 in Genome Data Viewer
    Location:
    5q23.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (122845613..123029318)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (123362482..123545865)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (122181308..122344900)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22997 Neighboring gene arginine-fifty homeobox pseudogene 1 Neighboring gene MPRA-validated peak5446 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:122087198-122087764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23001 Neighboring gene uncharacterized LOC105379154 Neighboring gene uncharacterized LOC124901216 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:122145340-122145844 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:122145845-122146350 Neighboring gene sorting nexin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16271 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:122195290-122196259 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:122196439-122196653 Neighboring gene Sharpr-MPRA regulatory region 12893 Neighboring gene MPRA-validated peak5448 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23002 Neighboring gene small nucleolar RNA U13 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:122364057-122365256 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:122371116-122371288 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16272 Neighboring gene RNA, 7SL, cytoplasmic 689, pseudogene Neighboring gene PPIC antisense RNA 1 Neighboring gene peptidylprolyl isomerase C Neighboring gene RNA, 7SL, cytoplasmic 711, pseudogene

    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 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. Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes. Lacey J, et al. Haematologica, 2022 Aug 1. PMID 35021601, Free PMC Article
    2. Sorting out the cellular functions of sorting nexins. Worby CA, et al. Nat Rev Mol Cell Biol, 2002 Dec. PMID 12461558
    3. Genome-wide meta-analysis identifies new susceptibility loci for migraine. Anttila V, et al. Nat Genet, 2013 Aug. PMID 23793025, Free PMC Article
    4. TRIM21 ameliorates hepatic glucose and lipid metabolic disorders in type 2 diabetes mellitus by ubiquitination of PEPCK1 and FASN. Zhang K, et al. Cell Mol Life Sci, 2023 May 30. PMID 37249651, Free PMC Article
    5. BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A. Mao CG, et al. Thorac Cancer, 2020 Nov. PMID 33001583, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sorting nexin 24 is required for alpha-granule biogenesis and cargo delivery in megakaryocytes.
      Title: Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes.
    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

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog

    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 phosphatidylinositol phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-4-phosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-5-phosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sorting nexin-24
    Names
    sorting nexing 24

    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_014035.4 → NP_054754.1  sorting nexin-24

      See identical proteins and their annotated locations for NP_054754.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes a protein.
      Source sequence(s)
      AF139461, BC010886, BQ278046, BU623609
      Consensus CDS
      CCDS4132.1
      UniProtKB/Swiss-Prot
      Q6UY33, Q9Y343
      UniProtKB/TrEMBL
      A8MXB7
      Related
      ENSP00000261369.4, ENST00000261369.9
      Conserved Domains (1) summary
      cd06880
      Location:1 → 111
      PX_SNX22; The phosphoinositide binding Phox Homology domain of Sorting Nexin 22

    RNA

    1. NR_146145.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF139461, BC010886, BQ278046, BU623609, CN362247

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      122845613..123029318
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009395.2 → XP_016864884.1  sorting nexin-24 isoform X5

    2. XM_011543349.4 → XP_011541651.1  sorting nexin-24 isoform X1

      UniProtKB/TrEMBL
      A8MXB7
      Conserved Domains (1) summary
      cd06880
      Location:1 → 144
      PX_SNX22; The phosphoinositide binding Phox Homology domain of Sorting Nexin 22

    3. XM_011543350.4 → XP_011541652.1  sorting nexin-24 isoform X3

      UniProtKB/TrEMBL
      A8MXB7
      Conserved Domains (1) summary
      cd06880
      Location:1 → 144
      PX_SNX22; The phosphoinositide binding Phox Homology domain of Sorting Nexin 22

    4. XM_005271972.6 → XP_005272029.1  sorting nexin-24 isoform X2

      Conserved Domains (1) summary
      cd06880
      Location:1 → 111
      PX_SNX22; The phosphoinositide binding Phox Homology domain of Sorting Nexin 22

    5. XM_006714592.5 → XP_006714655.1  sorting nexin-24 isoform X4

      Conserved Domains (1) summary
      cd06880
      Location:1 → 111
      PX_SNX22; The phosphoinositide binding Phox Homology domain of Sorting Nexin 22

    6. XM_011543352.2 → XP_011541654.1  sorting nexin-24 isoform X6

      Conserved Domains (1) summary
      cl02563
      Location:1 → 117
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    7. XM_017009396.2 → XP_016864885.1  sorting nexin-24 isoform X6

      Conserved Domains (1) summary
      cl02563
      Location:1 → 117
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    RNA

    1. XR_001742058.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      123362482..123545865
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352469.1 → XP_054208444.1  sorting nexin-24 isoform X5

    2. XM_054352465.1 → XP_054208440.1  sorting nexin-24 isoform X1

    3. XM_054352467.1 → XP_054208442.1  sorting nexin-24 isoform X3

    4. XM_054352466.1 → XP_054208441.1  sorting nexin-24 isoform X2

    5. XM_054352468.1 → XP_054208443.1  sorting nexin-24 isoform X4

    6. XM_054352471.1 → XP_054208446.1  sorting nexin-24 isoform X6

    7. XM_054352470.1 → XP_054208445.1  sorting nexin-24 isoform X6

    RNA

    1. XR_008487113.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y343.1 GenPept UniProtKB/Swiss-Prot:Q9Y343

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