SLC66A2 (solute carrier family 66 member 2)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80148
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 66 member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC66A2
Synonyms (NCBI Gene) Gene synonyms aliases
PQLC1
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q23
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005768 Component Endosome IBA
GO:0005802 Component Trans-Golgi network IBA
GO:0005829 Component Cytosol IEA
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N2U9
Protein name Solute carrier family 66 member 2 (PQ-loop repeat-containing protein 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04193 PQ-loop 17 → 77 PQ loop repeat Repeat
PF04193 PQ-loop 170 → 230 PQ loop repeat Repeat
Sequence 
MEAEGLDWLLVPLHQLVSWGAAAAMVFGGVVPYVPQYRDIRRTQNADGFSTYVCLVLLVA
NILRILFWFGRRFESPLLWQSAIMILTMLLMLKLCTEVRVANELNARRRSFTAADSKDEE
VKVAPRRSFLDFDPHHFWQWSSFSDYVQCVLAFTGVAGYITYLSIDSALFVETLGFLAVL
TEAMLGVPQLYRNHRHQSTEGMSIKMVLMWTSGDAFKTAYFLLKGAPLQFSVCGLLQVLV
DLAILGQAYAFARHPQKPAPHAVHPTGTKAL
Sequence length 271
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dementia Dementia N/A N/A GWAS
Diabetes Severe insulin-resistant type 2 diabetes N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Neoplasms Associate 25314065
Polyps Associate 25314065