Gene Gene information from NCBI Gene database.
Entrez ID 23544
Gene name Seizure related 6 homolog like
Gene symbol SEZ6L
Synonyms (NCBI Gene)
SEZ6L1
Chromosome 22
Chromosome location 22q12.1
miRNA miRNA information provided by mirtarbase database.
99
miRTarBase ID miRNA Experiments Reference
MIRT512995 hsa-miR-1273d PAR-CLIP 22012620
MIRT512994 hsa-miR-3938 PAR-CLIP 22012620
MIRT512993 hsa-miR-5591-3p PAR-CLIP 22012620
MIRT512992 hsa-miR-623 PAR-CLIP 22012620
MIRT512991 hsa-miR-204-5p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0008344 Process Adult locomotory behavior IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607021 10763 ENSG00000100095
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BYH1
Protein name Seizure 6-like protein
Protein function May contribute to specialized endoplasmic reticulum functions in neurons.
PDB 2YRA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00084 Sushi 393 448 Sushi repeat (SCR repeat) Domain
PF00431 CUB 452 559 CUB domain Domain
PF00084 Sushi 567 624 Sushi repeat (SCR repeat) Domain
PF00431 CUB 628 736 CUB domain Domain
PF00084 Sushi 745 800 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 806 865 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 873 930 Sushi repeat (SCR repeat) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, including adult and fetal brains and lungs. Not expressed in all lung cancer cell lines.
Sequence
MPAARPPAAGLRGISLFLALLLGSPAAALERDALPEGDASPLGPYLLPSGAPERGSPGKE
HPEERVVTAPPSSSQSAEVLGELVLDGTAPSAHHDIPALSPLLPEEARPKHALPPKKKLP
SLKQVNSARKQLRPKATSAATVQRAGSQPASQGLDLLSSSTEKPGPPGDPDPIVASEEAS
EVPLWLDRKESAVPTTPAPLQISPFTSQPYVAHTLPQRPEPGEPGPDMAQEAPQEDTSPM
ALMDKGENELTGSASEESQETTTSTIITTTVITTEQAPALCSVSFSNPEGYIDSSDYPLL
PLNNFLECTYNVTVYTGYGVELQVKSVNLSDGELLSIRGVDGPTLTVLANQTLLVEGQVI
RSPTNTISVYFRTFQDDGLGTFQLHYQAFMLSCNFPRRPDSGDVTVMDLHSGGVAHFHCH
LGYELQGAKMLTCINASKPHWSSQEPIC
SAPCGGAVHNATIGRVLSPSYPENTNGSQFCI
WTIEAPEGQKLHLHFERLLLHDKDRMTVHSGQTNKSALLYDSLQTESVPFEGLLSEGNTI
RIEFTSDQARAASTFNIRF
EAFEKGHCYEPYIQNGNFTTSDPTYNIGTIVEFTCDPGHSL
EQGPAIIECINVRDPYWNDTEPLC
RAMCGGELSAVAGVVLSPNWPEPYVEGEDCIWKIHV
GEEKRIFLDIQFLNLSNSDILTIYDGDEVMPHILGQYLGNSGPQKLYSSTPDLTIQFHSD
PAGLIFGKGQGFIMNY
IEVSRNDSCSDLPEIQNGWKTTSHTELVRGARITYQCDPGYDIV
GSDTLTCQWDLSWSSDPPFC
EKIMYCTDPGEVDHSTRLISDPVLLVGTTIQYTCNPGFVL
EGSSLLTCYSRETGTPIWTSRLPHC
VSEESLACDNPGLPENGYQILYKRLYLPGESLTFM
CYEGFELMGEVTIRCILGQPSHWNGPLPVC
KVNQDSFEHALEVAEAAAETSLEGGNMALA
IFIPVLIISLLLGGAYIYITRCRYYSNLRLPLMYSHPYSQITVETEFDNPIYETGETREY
EVSI
Sequence length 1024
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Prostate cancer Uncertain significance rs193920876, rs193920909 RCV000149089
RCV000149088
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 29581796
Autistic Disorder Associate 26204995
Carcinoma Non Small Cell Lung Associate 17804757
Cardiomyopathy Dilated Associate 38460409
Head and Neck Neoplasms Associate 26747525
Hydrocephalus Normal Pressure Associate 34360799
Lung Neoplasms Associate 17804757
Mental Disorders Associate 33936031
Neoplasms Associate 33381488, 35361846
Pancreatic Neoplasms Associate 30747226