Gene Gene information from NCBI Gene database.
Entrez ID 79856
Gene name Sorting nexin 22
Gene symbol SNX22
Synonyms (NCBI Gene)
-
Chromosome 15
Chromosome location 15q22.31
Summary The protein encoded by this gene is a sorting nexin that is found in the cytoplasm, where it interacts with membrane-bound phosphatidylinositol 3-phosphate. The encoded protein may play a role in intracellular trafficking. Two transcript variants, one pro
miRNA miRNA information provided by mirtarbase database.
428
miRTarBase ID miRNA Experiments Reference
MIRT458471 hsa-miR-302f HITS-CLIP 23706177
MIRT458470 hsa-miR-4781-5p HITS-CLIP 23706177
MIRT458466 hsa-miR-4768-3p HITS-CLIP 23706177
MIRT458465 hsa-miR-1247-3p HITS-CLIP 23706177
MIRT681425 hsa-miR-4787-5p HITS-CLIP 23706177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 32356940
GO:0008289 Function Lipid binding IEA
GO:0015031 Process Protein transport IEA
GO:0016020 Component Membrane IEA
GO:0030659 Component Cytoplasmic vesicle membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96L94
Protein name Sorting nexin-22
Protein function May be involved in several stages of intracellular trafficking (By similarity). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:17400918).
PDB 2ETT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00787 PX 31 108 PX domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in erythrocytes (at protein level). {ECO:0000269|PubMed:32356940}.
Sequence
MLEVHIPSVGPEAEGPRQSPEKSHMVFRVEVLCSGRRHTVPRRYSEFHALHKRIKKLYKV
PDFPSKRLPNWRTRGLEQRRQGLEAYIQGILYLNQEVPKELLEFLRLR
HFPTDPKASNWG
TLREFLPGDSSSQQHQRPVLSFHVDPYVCNPSPESLPNVVVNGVLQGLYSFSISPDKAQP
KAACHPAPLPPMP
Sequence length 193
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OSTEOGENESIS IMPERFECTA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE IX Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations