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    SYNGR4 synaptogyrin 4 [ Homo sapiens (human) ]

    Gene ID: 23546, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SYNGR4provided by HGNC
    Official Full Name
    synaptogyrin 4provided by HGNC
    Primary source
    HGNC:HGNC:11502
    See related
    Ensembl:ENSG00000105467 MIM:608373; AllianceGenome:HGNC:11502
    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
    Summary
    This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 8.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See SYNGR4 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48364268..48376377)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51358412..51370524)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (48867624..48879634)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48836515-48837250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48842328-48843265 Neighboring gene epithelial membrane protein 3 (MAM blood group) Neighboring gene transmembrane protein 143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48845414-48845914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48845915-48846415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48876382-48876882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48876883-48877383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10878 Neighboring gene KDEL endoplasmic reticulum protein retention receptor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48899313-48899496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10880 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48903941-48904482 Neighboring gene Sharpr-MPRA regulatory region 12315 Neighboring gene glutamate ionotropic receptor NMDA type subunit 2D Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48917645-48918366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48921924-48922690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14894 Neighboring gene Sharpr-MPRA regulatory region 8588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48947127-48947818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14896 Neighboring gene glutamate rich WD repeat containing 1 Neighboring gene potassium inwardly rectifying channel subfamily J member 14

    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. Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models. Marques RF, et al. Hum Mol Genet, 2020 Sep 29. PMID 32686835, Free PMC Article
    2. Characterization of the human synaptogyrin gene family. Kedra D, et al. Hum Genet, 1998 Aug. PMID 9760194
    3. A transcript map of the chromosome 19q-arm glioma tumor suppressor region. Smith JS, et al. Genomics, 2000 Feb 15. PMID 10708517
    4. A Novel GLP1 Receptor Interacting Protein ATP6ap2 Regulates Insulin Secretion in Pancreatic Beta Cells. Dai FF, et al. J Biol Chem, 2015 Oct 9. PMID 26272612, Free PMC Article
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (7) 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

    • MGC125805

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    synaptogyrin-4
    Names
    testis tissue sperm-binding protein Li 72n

    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_012451.4 → NP_036583.2  synaptogyrin-4

      See identical proteins and their annotated locations for NP_036583.2

      Status: REVIEWED

      Source sequence(s)
      AC011514, AI222412, BC106891
      Consensus CDS
      CCDS12717.1
      UniProtKB/Swiss-Prot
      O95473, Q3KP58
      UniProtKB/TrEMBL
      A0A140VKF5
      Related
      ENSP00000344041.1, ENST00000344846.7
      Conserved Domains (1) summary
      pfam01284
      Location:18 → 163
      MARVEL; Membrane-associating domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      48364268..48376377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258693.4 → XP_005258750.1  synaptogyrin-4 isoform X1

      See identical proteins and their annotated locations for XP_005258750.1

      UniProtKB/Swiss-Prot
      O95473, Q3KP58
      UniProtKB/TrEMBL
      A0A140VKF5
      Conserved Domains (1) summary
      pfam01284
      Location:18 → 163
      MARVEL; Membrane-associating domain

    2. XM_005258694.2 → XP_005258751.1  synaptogyrin-4 isoform X1

      See identical proteins and their annotated locations for XP_005258751.1

      UniProtKB/Swiss-Prot
      O95473, Q3KP58
      UniProtKB/TrEMBL
      A0A140VKF5
      Conserved Domains (1) summary
      pfam01284
      Location:18 → 163
      MARVEL; Membrane-associating domain

    3. XM_011526686.3 → XP_011524988.1  synaptogyrin-4 isoform X2

      Conserved Domains (1) summary
      pfam01284
      Location:10 → 114
      MARVEL; Membrane-associating domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51358412..51370524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320410.1 → XP_054176385.1  synaptogyrin-4 isoform X1

      UniProtKB/Swiss-Prot
      O95473, Q3KP58
      UniProtKB/TrEMBL
      A0A140VKF5

    2. XM_054320411.1 → XP_054176386.1  synaptogyrin-4 isoform X1

      UniProtKB/Swiss-Prot
      O95473, Q3KP58
      UniProtKB/TrEMBL
      A0A140VKF5

    3. XM_054320412.1 → XP_054176387.1  synaptogyrin-4 isoform X3

    4. XM_054320413.1 → XP_054176388.1  synaptogyrin-4 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95473.2 GenPept UniProtKB/Swiss-Prot:O95473

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