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This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
SYNRG (Synergin Gamma) is a Protein Coding gene. Diseases associated with SYNRG include Deafness, Autosomal Recessive 84A and Chromosome 17Q12 Deletion Syndrome. Gene Ontology (GO) annotations related to this gene include calcium ion binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | TAS | 10477754 |
GO:0005794 | Golgi apparatus | TAS | 10477754 |
GO:0016020 | membrane | IEA | -- |
GO:0030121 | AP-1 adaptor complex | TAS | 10477754 |
GO:0030130 | clathrin coat of trans-Golgi network vesicle | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006886 | intracellular protein transport | TAS | 10477754 |
GO:0006897 | endocytosis | IEA | -- |
GO:0015031 | protein transport | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SYNRG 30 |
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Dog (Canis familiaris) |
Mammalia | SYNRG 30 |
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Cow (Bos Taurus) |
Mammalia | SYNRG 30 |
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Rat (Rattus norvegicus) |
Mammalia | Synrg 30 |
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Mouse (Mus musculus) |
Mammalia | Synrg 30 17 |
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Chicken (Gallus gallus) |
Aves | SYNRG 30 |
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Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | synrg 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | synrg 30 |
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SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
872716 | Uncertain Significance: not provided | 37,520,174(-) |
C/T NM_007247.6(SYNRG):c.3813+5G>A |
INTRON | |
872717 | Uncertain Significance: not provided | 37,542,361(-) |
T/C NM_007247.6(SYNRG):c.2813A>G (p.Asn938Ser) |
MISSENSE | |
rs12602536 | - |
p.Thr222Ala |
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rs12944821 | - |
p.Ala40Gly |
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rs370465279 | - |
p.Arg1183His |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2657174 | CNV | deletion | 23128226 |
esv3307133 | CNV | mobile element insertion | 20981092 |
esv3310127 | CNV | mobile element insertion | 20981092 |
esv3373858 | CNV | insertion | 20981092 |
esv3374090 | CNV | insertion | 20981092 |
esv3399729 | CNV | insertion | 20981092 |
esv3640494 | CNV | gain | 21293372 |
esv3640500 | CNV | loss | 21293372 |
nsv827979 | CNV | loss | 20364138 |
nsv833431 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 84a |
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chromosome 17q12 deletion syndrome |
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meningococcal meningitis |
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