Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81609
Gene name Gene Name - the full gene name approved by the HGNC.
Sorting nexin 27
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SNX27
Synonyms (NCBI Gene) Gene synonyms aliases
MRT1, MY014
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein fa
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs201966711 C>G,T Pathogenic Coding sequence variant, synonymous variant, stop gained, genic downstream transcript variant
rs781657502 ->G Pathogenic Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs1553266166 ->A Pathogenic Genic downstream transcript variant, frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT706486 hsa-miR-890 HITS-CLIP 22927820
MIRT706485 hsa-miR-1910-3p HITS-CLIP 22927820
MIRT706484 hsa-miR-6511a-5p HITS-CLIP 22927820
MIRT666176 hsa-miR-6808-5p HITS-CLIP 22927820
MIRT666175 hsa-miR-6893-5p HITS-CLIP 22927820
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001770 Process Establishment of natural killer cell polarity TAS 17644068
GO:0001772 Component Immunological synapse IDA 17644068
GO:0005515 Function Protein binding IPI 19555689, 20733053, 22411990, 23563491, 25851603, 27385586, 33436498, 34504087, 34835087, 34909756
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IC 27385586
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611541 20073 ENSG00000143376
Protein
UniProt ID Q96L92
Protein name Sorting nexin-27
Protein function Involved in the retrograde transport from endosome to plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. Following internalization, endocytosed transmembrane proteins are delivered to early
PDB 4HAS , 5ZN9 , 6SAK , 7CT1 , 7E0B , 7P72 , 7PCB , 8TTT , 8TTU , 8TTV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 43 133 PDZ domain Domain
PF00787 PX 184 265 PX domain Domain
PF00788 RA 273 362 Ras association (RalGDS/AF-6) domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in cells of hematopoietic origin (at protein level). {ECO:0000269|PubMed:17351151, ECO:0000269|PubMed:17577583, ECO:0000269|PubMed:21300787}.
Sequence
MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQ
VSEGGQLRSINGELYAPLQHVSAVLPGGAADRAGVRKGDRILEVNHVNVEGATHKQVVDL
IRAGEKELILTVL
SVPPHEADNLDPSDDSLGQSFYDYTEKQAVPISVPRYKHVEQNGEKF
VVYNVYMAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLE
EYLEKVCSIRVIGESDIMQEFLSES
DENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQV
YQAIAAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKLYIQNYTSAVPGTCLTIRKW
LF
TTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRT
CEGYNEIIFPHCACDSRRKGHVITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTD
EEGMAFCFEYARGEKKPRWVKIFTPYFNYMHECFERVFCELKWRKENIFQMARSQQRDVA
T
Sequence length 541
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)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myoclonic Epilepsy Severe myoclonic epilepsy in infancy rs1553266166, rs201966711, rs781657502 N/A
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
Dermatitis Atopic dermatitis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cognition Disorders Associate 35095913
Epilepsies Myoclonic Associate 25894286
Immunologic Deficiency Syndromes Inhibit 25894286
Menkes Kinky Hair Syndrome Associate 23563491
Neoplasms Associate 29117568, 36326272, 36335158
Neurodegenerative Diseases Associate 25894286
Night blindness congenital stationary Associate 35095913
Papillomavirus Infections Associate 33177206
Uterine Cervical Neoplasms Associate 27649450, 36326272
Virus Diseases Associate 33177206