SYNGR3 synaptogyrin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SYNGR3provided by HGNC
Official Full Name: synaptogyrin 3provided by HGNC
Primary source: HGNC:HGNC:11501
See related: Ensembl:ENSG00000127561 MIM:603927; AllianceGenome:HGNC:11501
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 exact function of this protein is unclear, but studies of a similar murine protein suggest that it is a synaptic vesicle protein that also interacts with the dopamine transporter. The gene product belongs to the synaptogyrin gene family. [provided by RefSeq, Dec 2010]
Expression: Biased expression in brain (RPKM 26.0), adrenal (RPKM 4.5) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1989970..1994275)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (2009915..2014220)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (2039971..2044276)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tumor Cell Extrinsic Synaptogyrin 3 Expression as a Diagnostic and Prognostic Biomarker in Head and Neck Cancer.
Title: Tumor Cell Extrinsic Synaptogyrin 3 Expression as a Diagnostic and Prognostic Biomarker in Head and Neck Cancer.
In vivo overexpression of synaptogyrin-3 promotes striatal synaptic dopamine uptake in LRRK2[R1441G] mutant mouse model of Parkinson's disease.
Title: In vivo overexpression of synaptogyrin-3 promotes striatal synaptic dopamine uptake in LRRK2(R1441G) mutant mouse model of Parkinson's disease.
Transcriptional Regulation of the Synaptic Vesicle Protein Synaptogyrin-3 (SYNGR3) Gene: The Effects of NURR1 on Its Expression.
Title: Transcriptional Regulation of the Synaptic Vesicle Protein Synaptogyrin-3 (SYNGR3) Gene: The Effects of NURR1 on Its Expression.
This study demonstrates the interaction of the mouse homolog, synaptogyrin 3, with the dopamine transporter (DAT).
Title: Physical and functional interaction between the dopamine transporter and the synaptic vesicle protein synaptogyrin-3.
This study identifies the mouse homolog, synaptogyrin 3, as a synaptic vesicle protein.
Title: Characterization of synaptogyrin 3 as a new synaptic vesicle protein.

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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

RH66376 (e-PCR)
- UniSTS:7190

D3S3542 (e-PCR)
- UniSTS:4004

SHGC-61093 (e-PCR)
- UniSTS:61380

SYNGR3_8904 (e-PCR)
- UniSTS:467928

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH2 domain 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 positive regulation of transporter activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulated exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neurotransmitter uptake	IEA Inferred from Electronic Annotation more info
involved_in substantia nigra development	HEP more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle	ISS Inferred from Sequence or Structural Similarity 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-3

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.