SNTG2 syntrophin gamma 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNTG2provided by HGNC
Official Full Name: syntrophin gamma 2provided by HGNC
Primary source: HGNC:HGNC:13741
See related: Ensembl:ENSG00000172554 MIM:608715; AllianceGenome:HGNC:13741
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
Also known as: SYN5; G2SYN
Summary: This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 2p25.3

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (950849..1367613)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (950782..1369232)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (946535..1371385)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Overexpression of SNTG2, TRAF3IP2, and ITGA6 transcripts is associated with osteoporotic vertebral fracture in elderly women from community.
Title: Overexpression of SNTG2, TRAF3IP2, and ITGA6 transcripts is associated with osteoporotic vertebral fracture in elderly women from community.
MYT1L and the SNTG2 genes within the reported region could probably relate to the phenotypic discordance of the monozygotic twins.
Title: Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.
A de novo binding partner of X-linked neuroligin 4 and neuroligin 3, which correlates with autism-related mutations.
Title: Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations.
role in regulating SCN5A gating by a PDZ domain-mediated interaction
Title: Syntrophin gamma 2 regulates SCN5A gating by a PDZ domain-mediated interaction.

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Phenotypes

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Yeast two hybrid assay identifies the HIV-1 Nef-interacting protein syntrophin	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:484694

SHGC-155704 (e-PCR)
- UniSTS:183424

RH120160 (e-PCR)
- UniSTS:132227

SHGC-110410 (e-PCR)
- UniSTS:167846

RH99251 (e-PCR)
- UniSTS:88760

SHGC-84728 (e-PCR)
- UniSTS:104122

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables PDZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables actin binding	IEA Inferred from Electronic Annotation more info
enables neuroligin family protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of dystrophin-associated glycoprotein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info
part_of syntrophin complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: gamma-2-syntrophin

Names: syntrophin-5

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.

Genomic

NG_029707.2 RefSeqGene

Range

5002..421766

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018968.4 → NP_061841.2 gamma-2-syntrophin

See identical proteins and their annotated locations for NP_061841.2

Status: REVIEWED

Source sequence(s)

AC116614, AJ003029, BC035783, BG208326

Consensus CDS

CCDS46220.1

UniProtKB/Swiss-Prot

Q05AH5, Q9NY99

Related

ENSP00000311837.5, ENST00000308624.10

Conserved Domains (1) summary

cd00992
Location:72 → 153

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

950849..1367613

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047444795.1 → XP_047300751.1 gamma-2-syntrophin isoform X9
XM_017004374.1 → XP_016859863.1 gamma-2-syntrophin isoform X13
XM_047444798.1 → XP_047300754.1 gamma-2-syntrophin isoform X13
XM_017004362.1 → XP_016859851.1 gamma-2-syntrophin isoform X2
XM_017004372.1 → XP_016859861.1 gamma-2-syntrophin isoform X12
XM_017004371.1 → XP_016859860.1 gamma-2-syntrophin isoform X12
XM_017004365.2 → XP_016859854.1 gamma-2-syntrophin isoform X5
XM_017004366.2 → XP_016859855.1 gamma-2-syntrophin isoform X6
XM_017004368.2 → XP_016859857.1 gamma-2-syntrophin isoform X8
XM_017004369.2 → XP_016859858.1 gamma-2-syntrophin isoform X10
XM_017004370.1 → XP_016859859.1 gamma-2-syntrophin isoform X11
XM_017004361.2 → XP_016859850.1 gamma-2-syntrophin isoform X1

Conserved Domains (1) summary

cd00992
Location:73 → 154

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_017004363.2 → XP_016859852.1 gamma-2-syntrophin isoform X3

Conserved Domains (1) summary

cd00992
Location:13 → 94

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_047444794.1 → XP_047300750.1 gamma-2-syntrophin isoform X7
XM_017004364.2 → XP_016859853.1 gamma-2-syntrophin isoform X4