Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhou Y |
Year: |
2024 |
Journal: |
JCI Insight |
Title: |
Altered lipid homeostasis is associated with cerebellar neurodegeneration in SNX14 deficiency. |
Volume: |
9 |
Issue: |
10 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Huang HS |
Year: |
2014 |
Journal: |
PLoS One |
Title: |
Snx14 regulates neuronal excitability, promotes synaptic transmission, and is imprinted in the brain of mice. |
Volume: |
9 |
Issue: |
5 |
Pages: |
e98383 |
|
•
•
•
•
•
|
Publication |
First Author: |
Carroll P |
Year: |
2001 |
Journal: |
Dev Dyn |
Title: |
Sorting nexin-14, a gene expressed in motoneurons trapped by an in vitro preselection method. |
Volume: |
221 |
Issue: |
4 |
Pages: |
431-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bryant D |
Year: |
2020 |
Journal: |
Sci Rep |
Title: |
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations. |
Volume: |
10 |
Issue: |
1 |
Pages: |
13763 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5640736 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-06-17 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3647224 |
|
Stage: |
TS24 |
Assay Id: |
MGI:5640833 |
Age: |
embryonic day 16.5 |
Image: |
S5 |
|
Specimen Label: |
bv/+ |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5640736 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-06-17 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3647224 |
|
Stage: |
TS24 |
Assay Id: |
MGI:5640833 |
Age: |
embryonic day 16.5 |
Image: |
S5 |
|
Specimen Label: |
bv/bv |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5640736 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-06-18 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1778728 |
|
Stage: |
TS28 |
Assay Id: |
MGI:5641083 |
Age: |
postnatal day 15 |
Image: |
S7 |
|
Specimen Label: |
bv/+ |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5640736 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-06-18 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1778728 |
|
Stage: |
TS28 |
Assay Id: |
MGI:5641083 |
Age: |
postnatal day 15 |
Image: |
S7 |
|
Specimen Label: |
bv/bv |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
462
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Nakano Y |
Year: |
2012 |
Journal: |
PLoS Genet |
Title: |
A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse. |
Volume: |
8 |
Issue: |
10 |
Pages: |
e1002966 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGI and IMPC |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
MGI Curation of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2016 |
|
Title: |
Automatic assignment of GO terms using logical inference, based on on inter-ontology links |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Magdaleno S |
Year: |
2006 |
Journal: |
PLoS Biol |
Title: |
BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. |
Volume: |
4 |
Issue: |
4 |
Pages: |
e86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Akizu N |
Year: |
2015 |
Journal: |
Nat Genet |
Title: |
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. |
Volume: |
47 |
Issue: |
5 |
Pages: |
528-34 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ha CM |
Year: |
2015 |
Journal: |
J Cell Sci |
Title: |
SNX14 is a bifunctional negative regulator for neuronal 5-HT6 receptor signaling. |
Volume: |
128 |
Issue: |
9 |
Pages: |
1848-61 |
|
•
•
•
•
•
|
Allele |
Name: |
sorting nexin 14; endonuclease-mediated mutation 1, Naiara Akizu |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Strain |
Attribute String: |
endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This entry represents the RGS domain of SNX14 (Sorting Nexin14). RGS domain is a small α-helical structure that acts as GAPs for Galpha subunits of heterotrimeric G-proteins, and thus plays critical roles in attenuating G-protein coupled receptor (GPCR) signaling []. SNX14 is believed to regulate membrane trafficking in motor neurons []. It has been found localized to lysosomes and associated with phosphatidylinositol (3,5)-bisphosphate, a key component of late endosomes/lysosomes []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Mas C |
Year: |
2014 |
Journal: |
J Biol Chem |
Title: |
Structural basis for different phosphoinositide specificities of the PX domains of sorting nexins regulating G-protein signaling. |
Volume: |
289 |
Issue: |
41 |
Pages: |
28554-68 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
SNX14 (sorting nexin-14) is expressed in the embryonic nervous system of mammals such as mice, being co-expressed with homoprotein islet-1 in several tissues []. SNX14 levels increase progressively during neuronal development and its knockdown impairs both excitatory and inhibitory synaptic transmission, suggesting a role in neuronal development and function []. SNX14 contains an N-terminal PXA domain, a regulator of G protein signaling (RGS) domain, a PX domain, and a C-terminal PXC domain []. Its RGS domain is non-functional as a GTPase activator for Galpha, but it binds to and sequesters Galpha, thus inhibiting downstream cAMP production [].This entry represents the PX domain of SNX14. The PX domain is a phosphoinositide (PI) binding module present in many proteins with diverse functions [, ]. |
|
•
•
•
•
•
|
Publication |
First Author: |
Bravo J |
Year: |
2001 |
Journal: |
Mol Cell |
Title: |
The crystal structure of the PX domain from p40(phox) bound to phosphatidylinositol 3-phosphate. |
Volume: |
8 |
Issue: |
4 |
Pages: |
829-39 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
964
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
946
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
937
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
893
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
495
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Seet LF |
Year: |
2006 |
Journal: |
Biochim Biophys Acta |
Title: |
The Phox (PX) domain proteins and membrane traffic. |
Volume: |
1761 |
Issue: |
8 |
Pages: |
878-96 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gerhard DS |
Year: |
2004 |
Journal: |
Genome Res |
Title: |
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
Volume: |
14 |
Issue: |
10B |
Pages: |
2121-7 |
|
•
•
•
•
•
|