Gene Gene information from NCBI Gene database.
Entrez ID 54212
Gene name Syntrophin gamma 1
Gene symbol SNTG1
Synonyms (NCBI Gene)
G1SYNSYN4
Chromosome 8
Chromosome location 8q11.21
Summary 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 doma
miRNA miRNA information provided by mirtarbase database.
24
miRTarBase ID miRNA Experiments Reference
MIRT643001 hsa-miR-3606-3p HITS-CLIP 23824327
MIRT643000 hsa-miR-513a-3p HITS-CLIP 23824327
MIRT642999 hsa-miR-513c-3p HITS-CLIP 23824327
MIRT642998 hsa-miR-6849-3p HITS-CLIP 23824327
MIRT642997 hsa-miR-3671 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 10747910, 15485858, 32296183
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 15485858
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608714 13740 ENSG00000147481
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NSN8
Protein name Gamma-1-syntrophin (G1SYN) (Syntrophin-4) (SYN4)
Protein 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 regulati
PDB 7PC7 , 7PC8 , 7QQN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 57 137 PDZ domain Domain
Tissue specificity 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 o
Sequence
MDFRTACEETKTGICLLQDGNQEPFKVRLHLAKDILMIQEQDVICVSGEPFYSGERTVTI
RRQTVGGFGLSIKGGAEHNIPVVVSKISKEQRAELSGLLFIGDAILQINGINVRKCRHEE
VVQVLRNAGEEVTLTVS
FLKRAPAFLKLPLNEDCACAPSDQSSGTSSPLCDSGLHLNYHP
NNTDTLSCSSWPTSPGLRWEKRWCDLRLIPLLHSRFSQYVPGTDLSRQNAFQVIAVDGVC
TGIIQCLSAEDCVDWLQAIATNISNLTKHNIKKINRNFPVNQQIVYMGWCEAREQDPLQD
RVYSPTFLALRGSCLYKFLAPPVTTWDWTRAEKTFSVYEIMCKILKDSDLLDRRKQCFTV
QSESGEDLYFSVELESDLAQWERAFQTATFLEVERIQCKTYACVLESHLMGLTIDFSTGF
ICFDAATKAVLWRYKFSQLKGSSDDGKSKIKFLFQNPDTKQIEAKELEFSNLFAVLHCIH
SFFAAKVACLDPLFLGNQATASTAASSATTSKAKYTT
Sequence length 517
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21151896, 30549039
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30112632 Associate
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 32915819 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Muscular Dystrophy, Duchenne Duchenne Muscular Dystrophy BEFREE 15088139
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASDB_DG 22440650
★☆☆☆☆
Found in Text Mining only
Scoliosis Scoliosis Pubtator 34440387 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations