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Aliases for SNTG1 Gene

Aliases for SNTG1 Gene

  • Syntrophin Gamma 1 2 3 5
  • Gamma-1-Syntrophin 2 3
  • G1SYN 3 4
  • SYN4 3 4
  • Gamma1-Syntrophin 3
  • Syntrophin 4 3
  • Syntrophin-4 4

External Ids for SNTG1 Gene

Previous GeneCards Identifiers for SNTG1 Gene

  • GC08P049844
  • GC08P050829
  • GC08P050547
  • GC08P050874
  • GC08P050986
  • GC08P046289
  • GC08P050823

Summaries for SNTG1 Gene

Entrez Gene Summary for SNTG1 Gene

  • The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

GeneCards Summary for SNTG1 Gene

SNTG1 (Syntrophin Gamma 1) is a Protein Coding gene. Diseases associated with SNTG1 include Idiopathic Scoliosis and Basal Ganglia Calcification. Gene Ontology (GO) annotations related to this gene include actin binding and protein C-terminus binding. An important paralog of this gene is SNTG2.

UniProtKB/Swiss-Prot for SNTG1 Gene

  • Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity). May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation.

Gene Wiki entry for SNTG1 Gene

Additional gene information for SNTG1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNTG1 Gene

Genomics for SNTG1 Gene

GeneHancer (GH) Regulatory Elements for SNTG1 Gene

Promoters and enhancers for SNTG1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I049909 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 592.2 0.0 -12 0.8 CTCF MXI1 FOXA2 TAF1 SUZ12 MAX ZNF644 RAD21 YY1 POLR2A SNTG1 ENSG00000271148
GH08I049911 Promoter/Enhancer 1.3 EPDnew ENCODE 550.8 +1.9 1907 0.2 ELF3 ARID4B SIN3A ZSCAN9 RAD21 ZNF143 MIXL1 HMG20B KLF11 RXRA SNTG1 GC08P050143
GH08I049910 Enhancer 0.7 Ensembl ENCODE 550.8 +1.0 1017 0.4 POLR2A BACH1 SIN3A REST EZH2 SNTG1 GC08P050143
GH08I050014 Promoter 0.5 EPDnew 550.1 +104.6 104566 0.1 SNTG1 GC08P050143
GH08I049912 Enhancer 0.4 ENCODE 550.8 +0.7 747 0 SIN3A EZH2 SNTG1 GC08P050143
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SNTG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNTG1 gene promoter:

Genomic Locations for SNTG1 Gene

Genomic Locations for SNTG1 Gene
886,654 bases
Plus strand

Genomic View for SNTG1 Gene

Genes around SNTG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNTG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNTG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNTG1 Gene

Proteins for SNTG1 Gene

  • Protein details for SNTG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q2M3Q0
    • Q9NY98

    Protein attributes for SNTG1 Gene

    517 amino acids
    Molecular mass:
    57969 Da
    Quaternary structure:
    • Isoform 1, but not isoform 2, interacts with the dystrophin protein DMD and related proteins DTNA and DTNB. Interacts with DGKZ.

    Alternative splice isoforms for SNTG1 Gene


neXtProt entry for SNTG1 Gene

Post-translational modifications for SNTG1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SNTG1 Gene

Domains & Families for SNTG1 Gene

Gene Families for SNTG1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SNTG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The PDZ domain binds to the last three or four amino acids of DGKZ. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane.
  • Belongs to the syntrophin family.
  • The PDZ domain binds to the last three or four amino acids of DGKZ. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane.
  • Belongs to the syntrophin family.
genes like me logo Genes that share domains with SNTG1: view

Function for SNTG1 Gene

Molecular function for SNTG1 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity). May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation.

Phenotypes From GWAS Catalog for SNTG1 Gene

Gene Ontology (GO) - Molecular Function for SNTG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005198 structural molecule activity IEA --
GO:0008022 protein C-terminus binding IPI 15485858
genes like me logo Genes that share ontologies with SNTG1: view
genes like me logo Genes that share phenotypes with SNTG1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNTG1 Gene

Localization for SNTG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNTG1 Gene

Cytoplasm, cytoskeleton. Nucleus. Note=Mainly cytoplasmic and weakly nuclear.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNTG1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SNTG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA,IEA 15485858
GO:0005856 cytoskeleton IDA --
GO:0016013 syntrophin complex TAS 10747910
GO:0032587 ruffle membrane IDA 15485858
genes like me logo Genes that share ontologies with SNTG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SNTG1 Gene

Pathways & Interactions for SNTG1 Gene

SuperPathways for SNTG1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNTG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication TAS 10747910
genes like me logo Genes that share ontologies with SNTG1: view

No data available for Pathways by source and SIGNOR curated interactions for SNTG1 Gene

Drugs & Compounds for SNTG1 Gene

(3) Additional Compounds for SNTG1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1-Myristoyl-2-pentadecanoyl-sn-glycerol
  • DAG(14:0/15:0)
  • DAG(29:0)
  • DG(14:0/15:0)
  • DG(29:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonoyl-sn-glycerol
  • DAG(16:1/20:4)
  • DAG(16:1n7/20:4n6)
  • DAG(16:1w7/20:4w6)
  • DAG(36:5)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with SNTG1: view

Transcripts for SNTG1 Gene

Unigene Clusters for SNTG1 Gene

Syntrophin, gamma 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNTG1 Gene

No ASD Table

Relevant External Links for SNTG1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SNTG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNTG1 Gene

mRNA differential expression in normal tissues according to GTEx for SNTG1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.3), Brain - Anterior cingulate cortex (BA24) (x5.4), Brain - Cortex (x5.3), Brain - Nucleus accumbens (basal ganglia) (x5.1), Brain - Putamen (basal ganglia) (x5.0), Brain - Caudate (basal ganglia) (x4.9), and Brain - Hippocampus (x4.2).

NURSA nuclear receptor signaling pathways regulating expression of SNTG1 Gene:


SOURCE GeneReport for Unigene cluster for SNTG1 Gene:


mRNA Expression by UniProt/SwissProt for SNTG1 Gene:

Tissue specificity: Brain specific. In CNS, it is expressed in the perikaryon and proximal portion of the neuronal processes. Strong expression in the hippocampus, neuron-rich dendate granule cells, and pyramidal cell layers. Highly expressed in neurons of the cerebral cortex. Also expressed in the cerebellar cortex, deep cerebellar nuclei, thalamus, and basal ganglia. No expression in muscle cells.

Evidence on tissue expression from TISSUES for SNTG1 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with SNTG1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNTG1 Gene

Orthologs for SNTG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNTG1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SNTG1 33 34
  • 99.48 (n)
(Monodelphis domestica)
Mammalia SNTG1 34
  • 94 (a)
(Ornithorhynchus anatinus)
Mammalia SNTG1 34
  • 93 (a)
(Canis familiaris)
Mammalia SNTG1 33 34
  • 91.62 (n)
(Mus musculus)
Mammalia Sntg1 33 16 34
  • 88.22 (n)
(Bos Taurus)
Mammalia SNTG1 33 34
  • 86.08 (n)
(Rattus norvegicus)
Mammalia Sntg1 33
  • 84.4 (n)
(Gallus gallus)
Aves SNTG1 33 34
  • 83.43 (n)
(Anolis carolinensis)
Reptilia SNTG1 34
  • 88 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sntg1 33
  • 78.65 (n)
(Danio rerio)
Actinopterygii SNTG1 34
  • 79 (a)
sntg1 33
  • 75.84 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006633 33
  • 48.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta Syn2 35 33 34
  • 48.1 (n)
(Caenorhabditis elegans)
Secernentea stn-2 33 34
  • 45.69 (n)
F27D9.8 35
  • 32 (a)
Species where no ortholog for SNTG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNTG1 Gene

Gene Tree for SNTG1 (if available)
Gene Tree for SNTG1 (if available)

Paralogs for SNTG1 Gene

Paralogs for SNTG1 Gene

(3) SIMAP similar genes for SNTG1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SNTG1: view

Variants for SNTG1 Gene

Sequence variations from dbSNP and Humsavar for SNTG1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000002748 -- 50,632,299(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000002952 -- 49,970,054(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000007670 -- 49,916,671(+) AAA/AA genic_upstream_transcript_variant, intron_variant
rs1000009713 -- 50,612,325(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000011442 -- 50,154,749(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SNTG1 Gene

Variant ID Type Subtype PubMed ID
esv3617181 CNV loss 21293372
esv3617179 CNV loss 21293372
esv3617178 CNV loss 21293372
esv3617174 CNV loss 21293372
esv3617172 CNV loss 21293372
esv3617171 CNV loss 21293372
esv3617167 CNV loss 21293372
esv3617166 CNV loss 21293372
esv3617163 CNV loss 21293372
esv3617162 CNV loss 21293372
esv3617161 CNV loss 21293372
esv3617159 CNV loss 21293372
esv3617158 CNV loss 21293372
esv3617157 CNV loss 21293372
esv3584888 CNV loss 24956385
esv3572754 CNV loss 25503493
esv3572752 CNV loss 25503493
esv3543474 CNV deletion 23714750
esv34788 CNV loss 17911159
esv3447142 CNV insertion 20981092
esv3426920 CNV insertion 20981092
esv3425735 CNV insertion 20981092
esv3372465 CNV insertion 20981092
esv3328 CNV loss 18987735
esv3307299 CNV mobile element insertion 20981092
esv3306129 CNV mobile element insertion 20981092
esv3272385 CNV deletion 24192839
esv2759613 CNV loss 17122850
esv2736991 CNV deletion 23290073
esv2736990 CNV deletion 23290073
esv2736989 CNV deletion 23290073
esv2736988 CNV deletion 23290073
esv2736987 CNV deletion 23290073
esv2736986 CNV deletion 23290073
esv2736985 CNV deletion 23290073
esv2674624 CNV deletion 23128226
esv2666246 CNV deletion 23128226
esv2662128 CNV deletion 23128226
esv2661172 CNV deletion 23128226
esv25991 CNV loss 19812545
esv2593415 CNV loss 19546169
esv2521416 CNV deletion 19546169
esv2503933 CNV loss 19546169
esv24787 CNV gain 19812545
esv2475988 CNV deletion 19546169
esv2437712 CNV deletion 19546169
esv22898 CNV loss 19812545
esv22552 CNV loss 19812545
esv2246196 CNV deletion 18987734
esv2122954 CNV deletion 18987734
esv2122452 CNV deletion 18987734
esv2077062 CNV deletion 18987734
esv1715309 CNV insertion 17803354
esv1008187 CNV deletion 20482838
dgv7213n100 CNV loss 25217958
dgv468e215 CNV deletion 23714750
dgv457n21 CNV loss 19592680
dgv3822n106 CNV deletion 24896259
dgv2078e212 CNV loss 25503493
dgv157e203 CNV loss 21179565
dgv1397e214 CNV loss 21293372
dgv1396e214 CNV loss 21293372
dgv1286e199 CNV deletion 23128226
dgv1285e199 CNV deletion 23128226
dgv12166n54 CNV loss 21841781
dgv12165n54 CNV gain 21841781
dgv12164n54 CNV loss 21841781
dgv12163n54 CNV loss 21841781
dgv12162n54 CNV loss 21841781
dgv12161n54 CNV loss 21841781
dgv12160n54 CNV loss 21841781
dgv12159n54 CNV loss 21841781
dgv1182n67 CNV loss 20364138
nsv8339 CNV loss 18304495
nsv831312 CNV gain 17160897
nsv824624 CNV loss 20364138
nsv818624 CNV loss 17921354
nsv6185 CNV deletion 18451855
nsv6184 CNV deletion 18451855
nsv611342 CNV gain 21841781
nsv611341 CNV gain 21841781
nsv611326 CNV loss 21841781
nsv611312 CNV loss 21841781
nsv611311 CNV loss 21841781
nsv525765 CNV loss 19592680
nsv524203 CNV gain 19592680
nsv522665 CNV gain 19592680
nsv522428 CNV gain 19592680
nsv520800 CNV loss 19592680
nsv517030 CNV loss 19592680
nsv515087 CNV loss 21397061
nsv515086 CNV loss 21397061
nsv508509 CNV deletion 20534489
nsv507463 OTHER sequence alteration 20534489
nsv499696 CNV loss 21111241
nsv499111 CNV loss 21111241
nsv470212 CNV gain 18288195
nsv442516 CNV loss 18776908
nsv438053 CNV loss 16468122
nsv437619 CNV loss 16327808
nsv433494 CNV loss 18776910
nsv26 CNV deletion 15895083
nsv1161761 OTHER complex 26073780
nsv1132146 CNV deletion 24896259
nsv1126117 CNV deletion 24896259
nsv1073827 CNV deletion 25765185
nsv1034545 CNV gain 25217958
nsv1033098 CNV loss 25217958
nsv1031818 CNV loss 25217958
nsv1030044 CNV gain 25217958
nsv1029576 CNV gain 25217958
nsv1027984 CNV gain 25217958
nsv1023923 CNV gain 25217958
nsv1022362 CNV loss 25217958
nsv1017432 CNV gain 25217958
esv6927 CNV loss 19470904
esv5640 CNV loss 19470904
esv4199 CNV loss 18987735
esv3617182 CNV loss 21293372
nsv981937 CNV duplication 23825009
nsv972585 CNV deletion 23825009
nsv8341 CNV loss 18304495
nsv8340 CNV gain 18304495

Variation tolerance for SNTG1 Gene

Residual Variation Intolerance Score: 10.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNTG1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNTG1 Gene

Disorders for SNTG1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SNTG1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
idiopathic scoliosis
  • scoliosis idiopathic
basal ganglia calcification
  • fahr disease
familial idiopathic basal ganglia calcification
  • bilateral striopallidodentate calcinosis
- elite association - COSMIC cancer census association via MalaCards
Search SNTG1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SNTG1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SNTG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNTG1 Gene

Publications for SNTG1 Gene

  1. SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis. (PMID: 15088139) Bashiardes S … Lovett M (Human genetics 2004) 3 22 44 58
  2. Interaction of gamma 1-syntrophin with diacylglycerol kinase-zeta. Regulation of nuclear localization by PDZ interactions. (PMID: 11352924) Hogan A … Gee SH (The Journal of biological chemistry 2001) 3 4 22 58
  3. Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells. (PMID: 10747910) Piluso G … Nigro V (The Journal of biological chemistry 2000) 2 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 44 58

Products for SNTG1 Gene

Sources for SNTG1 Gene

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