SNX14 - sorting nexin 14 Gene
Also Known as SCAR20; RGS-PX2
Species: Homo sapiens
About SNX14
This gene has 97 transcripts (splice variants), 265 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 30.0), thyroid (RPKM 16.2) and 25 other tissues.
Summary
This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
SNX14 Products (26)
| mRNA | Protein | Name |
|---|---|---|
| NM_001297614.3 | NP_001284543.1 | sorting nexin-14 isoform c |
| NM_001304479.2 | NP_001291408.1 | sorting nexin-14 isoform d |
| NM_001350532.2 | NP_001337461.1 | sorting nexin-14 isoform e |
| NM_001350533.2 | NP_001337462.1 | sorting nexin-14 isoform f |
| NM_001350534.2 | NP_001337463.1 | sorting nexin-14 isoform g |
| NM_001350535.2 | NP_001337464.1 | sorting nexin-14 isoform h |
| NM_001350536.2 | NP_001337465.1 | sorting nexin-14 isoform i |
| NM_001350537.2 | NP_001337466.1 | sorting nexin-14 isoform j |
| NM_001350538.2 | NP_001337467.1 | sorting nexin-14 isoform k |
| NM_001350539.2 | NP_001337468.1 | sorting nexin-14 isoform l precursor |
| NM_001350540.2 | NP_001337469.1 | sorting nexin-14 isoform m |
| NM_001350541.2 | NP_001337470.1 | sorting nexin-14 isoform n |
| NM_001350542.2 | NP_001337471.1 | sorting nexin-14 isoform o precursor |
| NM_001350543.2 | NP_001337472.1 | sorting nexin-14 isoform p precursor |
| NM_001350544.2 | NP_001337473.1 | sorting nexin-14 isoform q precursor |
| NM_001350545.2 | NP_001337474.1 | sorting nexin-14 isoform r |
| NM_001350546.2 | NP_001337475.1 | sorting nexin-14 isoform r |
| NM_001350547.2 | NP_001337476.1 | sorting nexin-14 isoform s |
| NM_001350548.2 | NP_001337477.1 | sorting nexin-14 isoform t |
| NM_001350549.2 | NP_001337478.1 | sorting nexin-14 isoform t |
| NM_001350550.2 | NP_001337479.1 | sorting nexin-14 isoform t |
| NM_001350551.2 | NP_001337480.1 | sorting nexin-14 isoform t |
| NM_001350552.2 | NP_001337481.1 | sorting nexin-14 isoform t |
| NM_001350553.2 | NP_001337482.1 | sorting nexin-14 isoform u |
| NM_020468.6 | NP_065201.1 | sorting nexin-14 isoform b |
| NM_153816.6 | NP_722523.1 | sorting nexin-14 isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables phosphatidylinositol-3,5-bisphosphate binding |
IDA
IDA: Inferred from direct assay
|
25848753 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in autophagosome maturation |
IMP
IMP: Inferred from mutant phenotype
|
25848753 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in late endosome |
IDA
IDA: Inferred from direct assay
|
25848753 | GOA |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
25848753 | GOA |
SNX14 Protein Structure
PXA: PXA domain (130 - 302)
RGS: Regulator of G protein signaling domain (337 - 464)
PX: PX domain (583 - 685)
Nexin_C: Sorting nexin C terminal (807 - 912)
- 0
- 200
- 400
- 600
- 800
- 946 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sorting nexin-14 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
|
| Vici Syndrome |
|
|
| Hereditary Spastic Paraplegia 51 |
|
|
| Aceruloplasminemia |
|
|
| Hereditary Spastic Paraplegia 49 |
|
|
| Neurodegeneration With Brain Iron Accumulation 5 |
|
|
| Boucher-Neuhauser Syndrome |
|
|
| Alcohol-Related Neurodevelopmental Disorder |
|
|
| Spinal Cord Lymphoma |
|
|
| Choreoacanthocytosis |
|
|
| Neurodegeneration With Brain Iron Accumulation |
|
|
| Cerebellar Disease |
|
|
| Hereditary Spastic Paraplegia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | SNX14 | MGD | MGI:2155664 |
| Bos taurus | SNX14 | VGNC | VGNC:35094 |
| Felis catus | SNX14 | VGNC | VGNC:65545 |
| Rattus norvegicus | SNX14 | RGD | RGD:1310921 |
| Canis familiaris | SNX14 | VGNC | VGNC:46623 |
| Macaca mulatta | SNX14 | VGNC | VGNC:77708 |
| Others | SNX14 | NCBI |