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Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]
SNX19 (Sorting Nexin 19) is a Protein Coding gene. Diseases associated with SNX19 include Spinocerebellar Ataxia, Autosomal Recessive 20 and Johanson-Blizzard Syndrome. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding. An important paralog of this gene is SNX14.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16273344 |
GO:0008289 | lipid binding | IEA | -- |
GO:0032266 | phosphatidylinositol-3-phosphate binding | IEA | -- |
GO:0035091 | phosphatidylinositol binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | 19877062 |
GO:0005768 | endosome | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0030659 | cytoplasmic vesicle membrane | IEA | -- |
GO:0031410 | cytoplasmic vesicle | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002062 | chondrocyte differentiation | IMP | 19877062 |
GO:0006887 | exocytosis | IEA | -- |
GO:0015031 | protein transport | IEA | -- |
GO:0030073 | insulin secretion | IGI | 24843546 |
GO:1990502 | dense core granule maturation | IGI | 24843546 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SNX19 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SNX19 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Snx19 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Snx19 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SNX19 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SNX19 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SNX19 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SNX19 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SNX19 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | snx19 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | snx19a 30 31 |
|
OneToMany | |
snx19b 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs117260465 | Benign: not provided | 130,914,991(-) |
T/C NM_014758.2(SNX19):c.949A>G (p.Ser317Gly) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
rs142783173 | Benign: not provided | 130,880,697(-) |
G/A NM_014758.2(SNX19):c.2683C>T (p.Arg895Trp) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
rs144457394 | Likely Benign: not provided | 130,903,346(-) |
G/C NM_014758.2(SNX19):c.2482C>G (p.Leu828Val) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs1592391767 | Likely Benign: not provided | 130,915,901(-) |
T/G NM_014758.2(SNX19):c.39A>C (p.Pro13=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON | |
rs431825173 | Not Provided: not provided | 130,915,098(-) |
G/A NM_014758.2(SNX19):c.842C>T (p.Ala281Val) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1296n100 | CNV | gain | 25217958 |
esv3309519 | CNV | mobile element insertion | 20981092 |
esv3334474 | CNV | insertion | 20981092 |
nsv1035733 | CNV | gain | 25217958 |
nsv552 | CNV | deletion | 18451855 |
nsv556572 | CNV | gain | 21841781 |
nsv556574 | CNV | gain | 21841781 |
nsv556575 | CNV | gain | 21841781 |
nsv976000 | CNV | duplication | 23825009 |
nsv976001 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia, autosomal recessive 20 |
|
|
johanson-blizzard syndrome |
|
|
retinitis pigmentosa 42 |
|
|
jacobsen syndrome |
|
|