Gene Gene information from NCBI Gene database.
Entrez ID 81609
Gene name Sorting nexin 27
Gene symbol SNX27
Synonyms (NCBI Gene)
MRT1MY014
Chromosome 1
Chromosome location 1q21.3
Summary 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.
3
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.
1473
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611541 20073 ENSG00000143376
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Severe myoclonic epilepsy in infancy Pathogenic; Likely pathogenic rs2102690228, rs2102676931, rs2102724265, rs1346732190, rs574654968, rs1571881557, rs2525037609, rs2525156811, rs1553266166, rs201966711, rs781657502, rs770358039, rs1669791515, rs1669994959 RCV001982735
RCV001997033
RCV001994635
RCV001877806
RCV001975053
View all (9 more)
★★★★★
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
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 31182056, 31820782
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 35095913 Associate
★☆☆☆☆
Found in Text Mining only
Cone-Rod Dystrophy 2 Cone-rod dystrophy BEFREE 30619032
★☆☆☆☆
Found in Text Mining only
Congenital Hydrocephalus Congenital Hydrocephalus BEFREE 27974614
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 27270750, 27974614, 29632483
★☆☆☆☆
Found in Text Mining only
Early Infantile Epileptic Encephalopathy 6 Epileptic encephalopathy CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Epilepsies Myoclonic Myoclonic epilepsy Pubtator 25894286 Associate
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay GENOMICS_ENGLAND_DG 23524343
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay BEFREE 31721175
★☆☆☆☆
Found in Text Mining only
Hydrocephalus Hydrocephalus BEFREE 27974614
★☆☆☆☆
Found in Text Mining only