SEZ6L2 (seizure related 6 homolog like 2)

Gene

• Entrez ID: 26470
• Gene name: Seizure related 6 homolog like 2
• Gene symbol: SEZ6L2
• Synonyms (NCBI Gene): BSRPA, PSK-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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
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

Other IDs

• MIM: 616667
• HGNC: 30844
• e!Ensembl: ENSG00000174938

Protein

• UniProt ID: 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

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Anophthalmia-microphthalmia syndrome	Likely benign	rs869025256	RCV000207389

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	39360664
Carcinoma Hepatocellular	Associate	32148567
Carcinoma Non Small Cell Lung	Associate	16863507
Encephalitis	Associate	37550073
Hydrocephalus Normal Pressure	Associate	34360799
Intervertebral Disc Degeneration	Associate	35578687
Lung Neoplasms	Associate	16863507, 32148567
Lymphatic Metastasis	Stimulate	32148567
Mental Disorders	Associate	33936031
Neoplasms	Associate	16863507, 32148567, 39360664
Seizures	Associate	20503337
Small Cell Lung Carcinoma	Associate	16863507