Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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54221
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Syntrophin gamma 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SNTG2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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G2SYN, SYN5 |
Chromosome
Chromosome number
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2 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2p25.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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-relate |
UniProt ID |
Q9NY99
|
Protein name |
Gamma-2-syntrophin (G2SYN) (Syntrophin-5) (SYN5) |
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). |
PDB |
7QQL
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00595
|
PDZ |
73 → 153 |
PDZ domain |
Domain |
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Tissue specificity |
TISSUE SPECIFICITY: Widely expressed. Strong expression in brain and testis. 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 c |
Sequence |
MGTEGPPPPAASRGRQGCLLVPARTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVV CVGGSHQGRNRRTVTLRRQPVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDA VLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPAFLKLPLGSPGPSSDHSSGAS SPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLSMARISRYKAGTEKLR WNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHM GWVNEKLQGADSSQTFRPKFLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKF WLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSHVFNVELGSELAMWEKSFQRAT FMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKTR VKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGFMDSQSLARKYMYSS
|
|
Sequence length |
539 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Autism spectrum disorder |
Autism Spectrum Disorders |
rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813 View all (51 more) |
20808228 |
Autism |
Autistic Disorder |
rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542 View all (8 more) |
17292328 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
|
26634245 |
ClinVar |
Dementia |
Dementia |
|
|
GWAS |
Schizophrenia |
Schizophrenia |
|
|
GWAS |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Aphasia |
Associate
|
24129437 |
Asthma |
Associate
|
36862916 |
Fractures Bone |
Stimulate
|
32602654 |
Mental Disorders |
Associate
|
24129437 |
Osteoporotic Fractures |
Stimulate
|
32602654 |
Paroxysmal ventricular fibrillation |
Stimulate
|
32602654 |
Schizophrenia |
Associate
|
34969953 |
Spondylocostal dysostosis autosomal recessive |
Stimulate
|
32602654 |
|