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SYNGR2 synaptogyrin 2 [ Homo sapiens (human) ]

Gene ID: 9144, updated on 8-May-2016
Official Symbol
SYNGR2provided by HGNC
Official Full Name
synaptogyrin 2provided by HGNC
Primary source
HGNC:HGNC:11499
See related
Ensembl:ENSG00000108639 HPRD:04891; MIM:603926; Vega:OTTHUMG00000177457
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 containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Orthologs
Location:
17q25.3
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (78168551..78172928)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76164632..76169009)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transmembrane channel like 6 Neighboring gene transmembrane channel like 8 Neighboring gene chromosome 17 open reading frame 99 Neighboring gene eukaryotic translation initiation factor 5A pseudogene 2 Neighboring gene thymidine kinase 1 Neighboring gene arylformamidase Neighboring gene baculoviral IAP repeat containing 5

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC102914

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
synaptogyrin-2
Names
cellugyrin

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_001320523.1NP_001307452.1  synaptogyrin-2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC021593, BC105992, BI160076, CF122406
    UniProtKB/Swiss-Prot
    O43760
    Conserved Domains (1) summary
    pfam01284
    Location:20117
    MARVEL; Membrane-associating domain
  2. NM_004710.4NP_004701.1  synaptogyrin-2 isoform 1

    See identical proteins and their annotated locations for NP_004701.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC021593, AJ002308, BC000407, HY054610
    Consensus CDS
    CCDS11753.1
    UniProtKB/Swiss-Prot
    O43760
    UniProtKB/TrEMBL
    A0A024R8T9
    Related
    ENSP00000225777, OTTHUMP00000256703, ENST00000225777, OTTHUMT00000437009
    Conserved Domains (1) summary
    pfam01284
    Location:20165
    MARVEL; Membrane-associating domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    78168551..78172928
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257792.3XP_005257849.1  

    See identical proteins and their annotated locations for XP_005257849.1

    UniProtKB/Swiss-Prot
    O43760
    Related
    ENSP00000467600, OTTHUMP00000269015, ENST00000588282, OTTHUMT00000437011
    Conserved Domains (1) summary
    pfam01284
    Location:20161
    MARVEL; Membrane-associating domain
  2. XM_005257793.3XP_005257850.1  

    Related
    ENSP00000466204, OTTHUMP00000256705, ENST00000589168, OTTHUMT00000437012
    Conserved Domains (1) summary
    pfam01284
    Location:20117
    MARVEL; Membrane-associating domain

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    76229214..76233546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)