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    SYPL2 synaptophysin like 2 [ Homo sapiens (human) ]

    Gene ID: 284612, updated on 5-Mar-2024

    Summary

    Official Symbol
    SYPL2provided by HGNC
    Official Full Name
    synaptophysin like 2provided by HGNC
    Primary source
    HGNC:HGNC:27638
    See related
    Ensembl:ENSG00000143028 AllianceGenome:HGNC:27638
    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
    MG29
    Summary
    Involved in substantia nigra development. Predicted to be integral component of membrane. Predicted to be active in synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in kidney (RPKM 4.9), testis (RPKM 4.8) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SYPL2 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109466546..109482134)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109499325..109514907)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110009168..110024756)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak354 silencer Neighboring gene sortilin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1149 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:109940693-109941674 Neighboring gene proteasome 20S subunit alpha 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:109969133-109970064 Neighboring gene MPRA-validated peak355 silencer Neighboring gene MPRA-validated peak356 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110008599-110009100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110009101-110009600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110020155-110020674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110025999-110026616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110026617-110027236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110036856-110037356 Neighboring gene Sharpr-MPRA regulatory region 8825 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110042111-110042610 Neighboring gene ataxin 7 like 2 Neighboring gene cytochrome b561 family member D1

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of recurrent early-onset major depressive disorder.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    synaptophysin-like protein 2
    Names
    mitsugumin 29

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001040709.2NP_001035799.1  synaptophysin-like protein 2

      See identical proteins and their annotated locations for NP_001035799.1

      Status: VALIDATED

      Source sequence(s)
      AI983207, AL355145, DA097637, DB071160, DB291596, DN831287
      Consensus CDS
      CCDS41365.1
      UniProtKB/Swiss-Prot
      A8K0E8, A8KAL7, I0IT67, Q5VXT5, Q6ZMX1
      Related
      ENSP00000358888.3, ENST00000369872.4
      Conserved Domains (1) summary
      pfam01284
      Location:30232
      MARVEL; Membrane-associating domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      109466546..109482134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541283.3XP_011539585.1  synaptophysin-like protein 2 isoform X1

      Conserved Domains (1) summary
      pfam01284
      Location:30232
      MARVEL; Membrane-associating domain
    2. XM_011541285.2XP_011539587.1  synaptophysin-like protein 2 isoform X3

      See identical proteins and their annotated locations for XP_011539587.1

      UniProtKB/TrEMBL
      B4DYR7
      Conserved Domains (1) summary
      pfam01284
      Location:30162
      MARVEL; Membrane-associating domain
    3. XM_011541284.3XP_011539586.1  synaptophysin-like protein 2 isoform X2

      Conserved Domains (1) summary
      pfam01284
      Location:30162
      MARVEL; Membrane-associating domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      109499325..109514907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336131.1XP_054192106.1  synaptophysin-like protein 2 isoform X1

    2. XM_054336132.1XP_054192107.1  synaptophysin-like protein 2 isoform X2

    3. XM_054336133.1XP_054192108.1  synaptophysin-like protein 2 isoform X3

      UniProtKB/TrEMBL
      B4DYR7

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001006603.1: Suppressed sequence

      Description
      NM_001006603.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
    2. NM_198280.1: Suppressed sequence

      Description
      NM_198280.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.