Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54212
Gene name Gene Name - the full gene name approved by the HGNC.
Syntrophin gamma 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SNTG1
Synonyms (NCBI Gene) Gene synonyms aliases
G1SYN, SYN4
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q11.21
Summary Summary of gene provided in NCBI Entrez 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 doma
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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, 32296183
GO:0005622 Component Intracellular anatomical structure IBA 21873635
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608714 13740 ENSG00000147481
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
22440650
Unknown
Disease term Disease name Evidence References Source
Ovarian cancer Ovarian cancer Conditional KD of IL6 in the OCCA xenograft model delays tumor growth GWAS, CBGDA
Hypertension Hypertension GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 21151896
Alzheimer Disease Associate 30112632
Hypertension Associate 32915819
Scoliosis Associate 34440387