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	26470
Gene name	Seizure related 6 homolog like 2
Gene symbol	SEZ6L2
Synonyms (NCBI Gene)	BSRPAPSK-1
Chromosome	16
Chromosome location	16p11.2
Summary	This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly i

Show/Hide all (73)

miRTarBase ID	miRNA	Experiments
MIRT1340959	hsa-miR-1285	CLIP-seq
MIRT1340960	hsa-miR-1321	CLIP-seq
MIRT1340961	hsa-miR-146b-3p	CLIP-seq
MIRT1340962	hsa-miR-2276	CLIP-seq
MIRT1340963	hsa-miR-3162-5p	CLIP-seq
MIRT1340964	hsa-miR-3173-5p	CLIP-seq
MIRT1340965	hsa-miR-3184	CLIP-seq
MIRT1340966	hsa-miR-3187-5p	CLIP-seq
MIRT1340967	hsa-miR-3677-3p	CLIP-seq
MIRT1340968	hsa-miR-3941	CLIP-seq
MIRT1340969	hsa-miR-423-5p	CLIP-seq
MIRT1340970	hsa-miR-4270	CLIP-seq
MIRT1340971	hsa-miR-4292	CLIP-seq
MIRT1340972	hsa-miR-4441	CLIP-seq
MIRT1340973	hsa-miR-4459	CLIP-seq
MIRT1340974	hsa-miR-4654	CLIP-seq
MIRT1340975	hsa-miR-466	CLIP-seq
MIRT1340976	hsa-miR-4672	CLIP-seq
MIRT1340977	hsa-miR-4696	CLIP-seq
MIRT1340978	hsa-miR-4699-3p	CLIP-seq
MIRT1340979	hsa-miR-4722-5p	CLIP-seq
MIRT1340980	hsa-miR-4739	CLIP-seq
MIRT1340981	hsa-miR-4756-5p	CLIP-seq
MIRT1340982	hsa-miR-4769-5p	CLIP-seq
MIRT1340983	hsa-miR-4779	CLIP-seq
MIRT1340984	hsa-miR-612	CLIP-seq
MIRT1340985	hsa-miR-765	CLIP-seq
MIRT1340986	hsa-miR-874	CLIP-seq
MIRT2325405	hsa-miR-1827	CLIP-seq
MIRT2325406	hsa-miR-1908	CLIP-seq
MIRT2325407	hsa-miR-1913	CLIP-seq
MIRT2325408	hsa-miR-3141	CLIP-seq
MIRT2325409	hsa-miR-324-3p	CLIP-seq
MIRT2325410	hsa-miR-3612	CLIP-seq
MIRT2325411	hsa-miR-4281	CLIP-seq
MIRT2325412	hsa-miR-4446-5p	CLIP-seq
MIRT1340973	hsa-miR-4459	CLIP-seq
MIRT2325413	hsa-miR-4695-5p	CLIP-seq
MIRT2325414	hsa-miR-4755-5p	CLIP-seq
MIRT1340983	hsa-miR-4779	CLIP-seq
MIRT2325415	hsa-miR-486-3p	CLIP-seq
MIRT2325416	hsa-miR-642a	CLIP-seq
MIRT2325417	hsa-miR-650	CLIP-seq
MIRT2325418	hsa-miR-663	CLIP-seq
MIRT2325419	hsa-miR-665	CLIP-seq
MIRT2690510	hsa-miR-1204	CLIP-seq
MIRT2690511	hsa-miR-1296	CLIP-seq
MIRT2690512	hsa-miR-1910	CLIP-seq
MIRT2690513	hsa-miR-1972	CLIP-seq
MIRT2690514	hsa-miR-3135	CLIP-seq
MIRT2690515	hsa-miR-3192	CLIP-seq
MIRT1340967	hsa-miR-3677-3p	CLIP-seq
MIRT2690516	hsa-miR-3689a-3p	CLIP-seq
MIRT2690517	hsa-miR-3689c	CLIP-seq
MIRT2690518	hsa-miR-3926	CLIP-seq
MIRT2690519	hsa-miR-4314	CLIP-seq
MIRT2690520	hsa-miR-4512	CLIP-seq
MIRT2690521	hsa-miR-4640-5p	CLIP-seq
MIRT2690522	hsa-miR-4646-5p	CLIP-seq
MIRT2690523	hsa-miR-4650-5p	CLIP-seq
MIRT2690524	hsa-miR-4667-3p	CLIP-seq
MIRT2690525	hsa-miR-4685-5p	CLIP-seq
MIRT2690526	hsa-miR-4725-5p	CLIP-seq
MIRT2690527	hsa-miR-4726-5p	CLIP-seq
MIRT2690528	hsa-miR-4728-5p	CLIP-seq
MIRT2690529	hsa-miR-4732-5p	CLIP-seq
MIRT2690530	hsa-miR-4743	CLIP-seq
MIRT2690531	hsa-miR-4761-3p	CLIP-seq
MIRT2690532	hsa-miR-4787-5p	CLIP-seq
MIRT2325415	hsa-miR-486-3p	CLIP-seq
MIRT2690533	hsa-miR-504	CLIP-seq
MIRT2690534	hsa-miR-548s	CLIP-seq
MIRT2690535	hsa-miR-936	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma 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
616667	30844	ENSG00000174938

Q6UXD5

Protein name

Seizure 6-like protein 2

Protein function

May contribute to specialized endoplasmic reticulum functions in neurons.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00084	Sushi	290 → 345	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	464 → 523	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	527 → 633	CUB domain	Domain
PF00084	Sushi	644 → 699	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	705 → 764	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	771 → 828	Sushi repeat (SCR repeat)	Domain

Sequence

MGTPRAQHPPPPQLLFLILLSCPWIQGLPLKEEEILPEPGSETPTVASEALAELLHGALL
RRGPEMGYLPGSDRDPTLATPPAGQTLAVPSLPRATEPGTGPLTTAVTPNGVRGAGPTAP
ELLTPPPGTTAPPPPSPASPGPPLGPEGGEEETTTTIITTTTVTTTVTSPVLCNNNISEG
EGYVESPDLGSPVSRTLGLLDCTYSIHVYPGYGIEIQVQTLNLSQEEELLVLAGGGSPGL
APRLLANSSMLGEGQVLRSPTNRLLLHFQSPRVPRGGGFRIHYQAYLLSCGFPPRPAHGD
VSVTDLHPGGTATFHCDSGYQLQGEETLICLNGTRPSWNGETPSCMASCGGTIHNATLGR
IVSPEPGGAVGPNLTCRWVIEAAEGRRLHLHFERVSLDEDNDRLMVRSGGSPLSPVIYDS
DMDDVPERGLISDAQSLYVELLSETPANPLLLSLRFEAFEEDRCFAPFLAHGNVTTTDPE
YRPGALATFSCLPGYALEPPGPPNAIECVDPTEPHWNDTEPACKAMCGGELSEPAGVVLS
PDWPQSYSPGQDCVWGVHVQEEKRILLQVEILNVREGDMLTLFDGDGPSARVLAQLRGPQ
PRRRLLSSGPDLTLQFQAPPGPPNPGLGQGFVLHFKEVPRNDTCPELPPPEWGWRTASHG
DLIRGTVLTYQCEPGYELLGSDILTCQWDLSWSAAPPACQKIMTCADPGEIANGHRTASD
AGFPVGSHVQYRCLPGYSLEGAAMLTCYSRDTGTPKWSDRVPKCALKYEPCLNPGVPENG
YQTLYKHHYQAGESLRFFCYEGFELIGEVTITCVPGHPSQWTSQPPLCKVTQTTDPSRQL
EGGNLALAILLPLGLVIVLGSGVYIYYTKLQGKSLFGFSGSHSYSPITVESDFSNPLYEA
GDTREYEVSI

Sequence length

910

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 (4)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21394203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	19242545		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	19242545		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	39360664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32148567	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	23585562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	37550073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus Normal Pressure	Normal pressure hydrocephalus	Pubtator	34360799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35578687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15735714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	16863507, 32148567	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32148567	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16863507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19414318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	7728773, 9239521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31711114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16863507, 19414318, 7728773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	23585562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	20503337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	23585562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	16863507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19414318		★★★★★ ★☆☆☆☆ Found in Text Mining only

SEZ6L2 (seizure related 6 homolog like 2)