Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	23544
Gene name	Seizure related 6 homolog like
Gene symbol	SEZ6L
Synonyms (NCBI Gene)	SEZ6L1
Chromosome	22
Chromosome location	22q12.1

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
MIRT512990	hsa-miR-211-5p	PAR-CLIP	22012620
MIRT512989	hsa-miR-4755-5p	PAR-CLIP	22012620
MIRT512988	hsa-miR-5006-3p	PAR-CLIP	22012620
MIRT512987	hsa-miR-552-5p	PAR-CLIP	22012620
MIRT512996	hsa-miR-3133	PAR-CLIP	23446348
MIRT512995	hsa-miR-1273d	PAR-CLIP	23446348
MIRT512994	hsa-miR-3938	PAR-CLIP	23446348
MIRT512993	hsa-miR-5591-3p	PAR-CLIP	23446348
MIRT512992	hsa-miR-623	PAR-CLIP	23446348
MIRT512991	hsa-miR-204-5p	PAR-CLIP	23446348
MIRT512990	hsa-miR-211-5p	PAR-CLIP	23446348
MIRT512989	hsa-miR-4755-5p	PAR-CLIP	23446348
MIRT512988	hsa-miR-5006-3p	PAR-CLIP	23446348
MIRT512987	hsa-miR-552-5p	PAR-CLIP	23446348
MIRT512995	hsa-miR-1273d	PAR-CLIP	27292025
MIRT512995	hsa-miR-1273d	PAR-CLIP	27292025
MIRT512995	hsa-miR-1273d	PAR-CLIP	27292025
MIRT512991	hsa-miR-204-5p	PAR-CLIP	27292025
MIRT512991	hsa-miR-204-5p	PAR-CLIP	27292025
MIRT512991	hsa-miR-204-5p	PAR-CLIP	27292025
MIRT512990	hsa-miR-211-5p	PAR-CLIP	27292025
MIRT512990	hsa-miR-211-5p	PAR-CLIP	27292025
MIRT512990	hsa-miR-211-5p	PAR-CLIP	27292025
MIRT512996	hsa-miR-3133	PAR-CLIP	27292025
MIRT512994	hsa-miR-3938	PAR-CLIP	27292025
MIRT512994	hsa-miR-3938	PAR-CLIP	27292025
MIRT512994	hsa-miR-3938	PAR-CLIP	27292025
MIRT512989	hsa-miR-4755-5p	PAR-CLIP	27292025
MIRT512989	hsa-miR-4755-5p	PAR-CLIP	27292025
MIRT512989	hsa-miR-4755-5p	PAR-CLIP	27292025
MIRT512988	hsa-miR-5006-3p	PAR-CLIP	27292025
MIRT512988	hsa-miR-5006-3p	PAR-CLIP	27292025
MIRT512988	hsa-miR-5006-3p	PAR-CLIP	27292025
MIRT512987	hsa-miR-552-5p	PAR-CLIP	27292025
MIRT512987	hsa-miR-552-5p	PAR-CLIP	27292025
MIRT512987	hsa-miR-552-5p	PAR-CLIP	27292025
MIRT512993	hsa-miR-5591-3p	PAR-CLIP	27292025
MIRT512993	hsa-miR-5591-3p	PAR-CLIP	27292025
MIRT512993	hsa-miR-5591-3p	PAR-CLIP	27292025
MIRT512992	hsa-miR-623	PAR-CLIP	27292025
MIRT512992	hsa-miR-623	PAR-CLIP	27292025
MIRT512992	hsa-miR-623	PAR-CLIP	27292025
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
MIRT512990	hsa-miR-211-5p	PAR-CLIP	22012620
MIRT512989	hsa-miR-4755-5p	PAR-CLIP	22012620
MIRT512988	hsa-miR-5006-3p	PAR-CLIP	22012620
MIRT512987	hsa-miR-552-5p	PAR-CLIP	22012620
MIRT512996	hsa-miR-3133	PAR-CLIP	23446348
MIRT512995	hsa-miR-1273d	PAR-CLIP	23446348
MIRT512994	hsa-miR-3938	PAR-CLIP	23446348
MIRT512993	hsa-miR-5591-3p	PAR-CLIP	23446348
MIRT512992	hsa-miR-623	PAR-CLIP	23446348
MIRT512991	hsa-miR-204-5p	PAR-CLIP	23446348
MIRT512990	hsa-miR-211-5p	PAR-CLIP	23446348
MIRT512989	hsa-miR-4755-5p	PAR-CLIP	23446348
MIRT512988	hsa-miR-5006-3p	PAR-CLIP	23446348
MIRT512987	hsa-miR-552-5p	PAR-CLIP	23446348
MIRT1340987	hsa-miR-296-3p	CLIP-seq
MIRT1340988	hsa-miR-1255a	CLIP-seq
MIRT1340989	hsa-miR-1255b	CLIP-seq
MIRT1340990	hsa-miR-151-5p	CLIP-seq
MIRT1340991	hsa-miR-151b	CLIP-seq
MIRT1340992	hsa-miR-3123	CLIP-seq
MIRT1340993	hsa-miR-3131	CLIP-seq
MIRT1340994	hsa-miR-3150b-3p	CLIP-seq
MIRT1340995	hsa-miR-3180-5p	CLIP-seq
MIRT1340996	hsa-miR-326	CLIP-seq
MIRT1340997	hsa-miR-330-5p	CLIP-seq
MIRT1340998	hsa-miR-4782-5p	CLIP-seq
MIRT1340999	hsa-miR-4784	CLIP-seq
MIRT1341000	hsa-miR-494	CLIP-seq
MIRT1341001	hsa-miR-499a-5p	CLIP-seq
MIRT1341002	hsa-miR-516a-5p	CLIP-seq
MIRT1341003	hsa-miR-520a-5p	CLIP-seq
MIRT1341004	hsa-miR-525-5p	CLIP-seq
MIRT1341005	hsa-miR-549	CLIP-seq
MIRT1341006	hsa-miR-593	CLIP-seq
MIRT1341007	hsa-miR-611	CLIP-seq
MIRT2100900	hsa-miR-578	CLIP-seq
MIRT2325420	hsa-miR-125a-3p	CLIP-seq
MIRT2325421	hsa-miR-1298	CLIP-seq
MIRT2325422	hsa-miR-1915	CLIP-seq
MIRT2325423	hsa-miR-329	CLIP-seq
MIRT2325424	hsa-miR-362-3p	CLIP-seq
MIRT2325425	hsa-miR-3941	CLIP-seq
MIRT2325426	hsa-miR-603	CLIP-seq
MIRT2459175	hsa-miR-34b	CLIP-seq
MIRT2459176	hsa-miR-34c-3p	CLIP-seq
MIRT2459177	hsa-miR-4776-3p	CLIP-seq
MIRT2690536	hsa-miR-4686	CLIP-seq

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
GO:0016020	Component	Membrane	IEA
GO:0021680	Process	Cerebellar Purkinje cell layer development	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0060074	Process	Synapse maturation	IBA
GO:0060074	Process	Synapse maturation	IEA

MIM	HGNC	e!Ensembl
607021	10763	ENSG00000100095

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

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)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC KETOACIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR BRAIN INJURY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorder	Autism	Pubtator	29581796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26204995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	26204995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	22920719		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	22920719		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	BEFREE	11175339, 17804757, 20424129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	38460409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	26747525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus Normal Pressure	Normal pressure hydrocephalus	Pubtator	34360799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17804757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17804757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11175339, 17804757, 20424129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31711114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22972171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17804757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	29979789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17804757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30747226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	17804757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18158559, 26769141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SEZ6L (seizure related 6 homolog like)