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SNTG2 syntrophin gamma 2 [ Homo sapiens (human) ]

Gene ID: 54221, updated on 4-Oct-2020

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
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

Genomic context

See SNTG2 in Genome Data Viewer
Location:
2p25.3
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (950849..1367991)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (946554..1371401)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373481 Neighboring gene long intergenic non-protein coding RNA 1939 Neighboring gene SNTG2 antisense RNA 1 Neighboring gene uncharacterized LOC105373359 Neighboring gene thyroid peroxidase Neighboring gene uncharacterized LOC102723730

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC133174

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
actin binding IEA
Inferred from Electronic Annotation
more info
 
neuroligin family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
dystrophin-associated glycoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 
syntrophin complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
gamma-2-syntrophin
Names
syntrophin-5

NCBI Reference Sequences (RefSeq)

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

  1. NG_029707.1 RefSeqGene

    Range
    4982..429832
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018968.4NP_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
    Q9NY99
    Related
    ENSP00000311837.5, ENST00000308624.10
    Conserved Domains (1) summary
    cd00992
    Location:72153
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    950849..1367991
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004367.1XP_016859856.1  gamma-2-syntrophin isoform X7

    Conserved Domains (1) summary
    cd00992
    Location:240
    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) ...
  2. XM_017004374.1XP_016859863.1  gamma-2-syntrophin isoform X13

  3. XM_017004362.1XP_016859851.1  gamma-2-syntrophin isoform X2

  4. XM_017004372.1XP_016859861.1  gamma-2-syntrophin isoform X11

  5. XM_017004371.1XP_016859860.1  gamma-2-syntrophin isoform X11

  6. XM_017004365.1XP_016859854.1  gamma-2-syntrophin isoform X5

  7. XM_017004366.1XP_016859855.1  gamma-2-syntrophin isoform X6

  8. XM_017004368.1XP_016859857.1  gamma-2-syntrophin isoform X8

  9. XM_017004370.1XP_016859859.1  gamma-2-syntrophin isoform X10

  10. XM_017004369.1XP_016859858.1  gamma-2-syntrophin isoform X9

  11. XM_017004361.1XP_016859850.1  gamma-2-syntrophin isoform X1

    Conserved Domains (1) summary
    cd00992
    Location:73154
    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) ...
  12. XM_017004363.1XP_016859852.1  gamma-2-syntrophin isoform X3

    Conserved Domains (1) summary
    cd00992
    Location:1394
    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) ...
  13. XM_011510366.2XP_011508668.1  gamma-2-syntrophin isoform X7

    See identical proteins and their annotated locations for XP_011508668.1

    Conserved Domains (1) summary
    cd00992
    Location:240
    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) ...
  14. XM_017004364.1XP_016859853.1  gamma-2-syntrophin isoform X4

  15. XM_017004373.2XP_016859862.1  gamma-2-syntrophin isoform X12

  16. XM_024452970.1XP_024308738.1  gamma-2-syntrophin isoform X12

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187526.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    4168..64734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187529.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    1087..50794
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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