SEZ6L (seizure related 6 homolog like)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23544
Gene name Gene Name - the full gene name approved by the HGNC.
Seizure related 6 homolog like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SEZ6L
Synonyms (NCBI Gene) Gene synonyms aliases
SEZ6L1
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.1
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607021 10763 ENSG00000100095
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
LGYELQGAKMLTCINASKPHWSSQEPICSAPCGGAVHNATIGRVLSPSYPENTNGSQFCI
WTIEAPEGQKLHLHFERLLLHDKDRMTVHSGQTNKSALLYDSLQTESVPFEGLLSEGNTI
RIEFTSDQARAASTFNIRFEAFEKGHCYEPYIQNGNFTTSDPTYNIGTIVEFTCDPGHSL
EQGPAIIECINVRDPYWNDTEPLCRAMCGGELSAVAGVVLSPNWPEPYVEGEDCIWKIHV
GEEKRIFLDIQFLNLSNSDILTIYDGDEVMPHILGQYLGNSGPQKLYSSTPDLTIQFHSD
PAGLIFGKGQGFIMNYIEVSRNDSCSDLPEIQNGWKTTSHTELVRGARITYQCDPGYDIV
GSDTLTCQWDLSWSSDPPFCEKIMYCTDPGEVDHSTRLISDPVLLVGTTIQYTCNPGFVL
EGSSLLTCYSRETGTPIWTSRLPHCVSEESLACDNPGLPENGYQILYKRLYLPGESLTFM
CYEGFELMGEVTIRCILGQPSHWNGPLPVCKVNQDSFEHALEVAEAAAETSLEGGNMALA
IFIPVLIISLLLGGAYIYITRCRYYSNLRLPLMYSHPYSQITVETEFDNPIYETGETREY
EVSI
Sequence length 1024
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)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
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
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Diabetes Type 2 diabetes with ketoacidosis (PheCode 250.21) N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease 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