Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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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.
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SNTG1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
G1SYN, SYN4 |
Chromosome
Chromosome number
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8 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8q11.21 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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 VVQVLRNAGEEVTLTVSFLKRAPAFLKLPLNEDCACAPSDQSSGTSSPLCDSGLHLNYHP NNTDTLSCSSWPTSPGLRWEKRWCDLRLIPLLHSRFSQYVPGTDLSRQNAFQVIAVDGVC TGIIQCLSAEDCVDWLQAIATNISNLTKHNIKKINRNFPVNQQIVYMGWCEAREQDPLQD RVYSPTFLALRGSCLYKFLAPPVTTWDWTRAEKTFSVYEIMCKILKDSDLLDRRKQCFTV QSESGEDLYFSVELESDLAQWERAFQTATFLEVERIQCKTYACVLESHLMGLTIDFSTGF ICFDAATKAVLWRYKFSQLKGSSDDGKSKIKFLFQNPDTKQIEAKELEFSNLFAVLHCIH SFFAAKVACLDPLFLGNQATASTAASSATTSKAKYTT
|
|
Sequence length |
517 |
Interactions |
View interactions
|
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, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 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 |
Astrocytoma |
Astrocytoma |
|
|
GWAS |
Gastroparesis |
Gastroparesis |
|
|
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 |
|