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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
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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

Gene LinkOut

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