Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79856
Gene name Gene Name - the full gene name approved by the HGNC.
Sorting nexin 22
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SNX22
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q22.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0015031 Process Protein transport IEA
GO:0030659 Component Cytoplasmic vesicle membrane IEA
GO:1901981 Function Phosphatidylinositol phosphate binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Osteogenesis imperfecta OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) rs72659351, rs72659354, rs72659348, rs72659355, rs137853952, rs118203996, rs137853890, rs72659360, rs72659362, rs72659359, rs72659361, rs72659357, rs121918002, rs121918007, rs121918009
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