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	124925
Gene name	Seizure related 6 homolog
Gene symbol	SEZ6
Synonyms (NCBI Gene)	BSRPC
Chromosome	17
Chromosome location	17q11.2
Summary	The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene ha

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miRTarBase ID	miRNA	Experiments
MIRT1340938	hsa-miR-1268	CLIP-seq
MIRT1340939	hsa-miR-1268b	CLIP-seq
MIRT1340940	hsa-miR-1343	CLIP-seq
MIRT1340941	hsa-miR-3119	CLIP-seq
MIRT1340942	hsa-miR-3135b	CLIP-seq
MIRT1340943	hsa-miR-3157-5p	CLIP-seq
MIRT1340944	hsa-miR-3652	CLIP-seq
MIRT1340945	hsa-miR-369-3p	CLIP-seq
MIRT1340946	hsa-miR-374a	CLIP-seq
MIRT1340947	hsa-miR-374b	CLIP-seq
MIRT1340948	hsa-miR-374c	CLIP-seq
MIRT1340949	hsa-miR-4267	CLIP-seq
MIRT1340950	hsa-miR-4430	CLIP-seq
MIRT1340951	hsa-miR-4443	CLIP-seq
MIRT1340952	hsa-miR-4486	CLIP-seq
MIRT1340953	hsa-miR-4505	CLIP-seq
MIRT1340954	hsa-miR-4691-3p	CLIP-seq
MIRT1340955	hsa-miR-4779	CLIP-seq
MIRT1340956	hsa-miR-585	CLIP-seq
MIRT1340957	hsa-miR-655	CLIP-seq
MIRT1340958	hsa-miR-765	CLIP-seq
MIRT1553608	hsa-miR-1269	CLIP-seq
MIRT1553609	hsa-miR-1269b	CLIP-seq
MIRT1553610	hsa-miR-1287	CLIP-seq
MIRT1553611	hsa-miR-1288	CLIP-seq
MIRT1340942	hsa-miR-3135b	CLIP-seq
MIRT1553612	hsa-miR-378	CLIP-seq
MIRT1553613	hsa-miR-378b	CLIP-seq
MIRT1553614	hsa-miR-378c	CLIP-seq
MIRT1553615	hsa-miR-378d	CLIP-seq
MIRT1553616	hsa-miR-378e	CLIP-seq
MIRT1553617	hsa-miR-378f	CLIP-seq
MIRT1553618	hsa-miR-378h	CLIP-seq
MIRT1553619	hsa-miR-378i	CLIP-seq
MIRT1553620	hsa-miR-422a	CLIP-seq
MIRT1553621	hsa-miR-4318	CLIP-seq
MIRT1553622	hsa-miR-4515	CLIP-seq
MIRT1553623	hsa-miR-4740-5p	CLIP-seq
MIRT2100896	hsa-miR-214	CLIP-seq
MIRT2100897	hsa-miR-3126-5p	CLIP-seq
MIRT2100898	hsa-miR-3619-5p	CLIP-seq
MIRT2100899	hsa-miR-761	CLIP-seq

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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:0005886	Component	Plasma membrane	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0016020	Component	Membrane	IEA
GO:0021680	Process	Cerebellar Purkinje cell layer development	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:0043197	Component	Dendritic spine	IBA
GO:0043197	Component	Dendritic spine	IEA
GO:0043198	Component	Dendritic shaft	IBA
GO:0043198	Component	Dendritic shaft	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050773	Process	Regulation of dendrite development	IBA
GO:0050773	Process	Regulation of dendrite development	IEA
GO:0060074	Process	Synapse maturation	IBA
GO:0060074	Process	Synapse maturation	IEA
GO:0060074	Process	Synapse maturation	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0097440	Component	Apical dendrite	IEA

MIM	HGNC	e!Ensembl
616666	15955	ENSG00000063015

Q53EL9

Protein name

Seizure protein 6 homolog (SEZ-6) (hSEZ-6)

Protein function

May play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex dendritic arbor. Involv

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00084	Sushi	357 → 412	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	416 → 524	CUB domain	Domain
PF00084	Sushi	532 → 589	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	593 → 701	CUB domain	Domain
PF00084	Sushi	710 → 765	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	771 → 830	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	838 → 895	Sushi repeat (SCR repeat)	Domain

Sequence

MRPVALLLLPSLLALLAHGLSLEAPTVGKGQAPGIEETDGELTAAPTPEQPERGVHFVTT
APTLKLLNHHPLLEEFLQEGLEKGDEELRPALPFQPDPPAPFTPSPLPRLANQDSRPVFT
SPTPAMAAVPTQPQSKEGPWSPESESPMLRITAPLPPGPSMAVPTLGPGEIASTTPPSRA
WTPTQEGPGDMGRPWVAEVVSQGAGIGIQGTITSSTASGDDEETTTTTTIITTTITTVQT
PGPCSWNFSGPEGSLDSPTDLSSPTDVGLDCFFYISVYPGYGVEIKVQNISLREGETVTV
EGLGGPDPLPLANQSFLLRGQVIRSPTHQAALRFQSLPPPAGPGTFHFHYQAYLLSCHFP
RRPAYGDVTVTSLHPGGSARFHCATGYQLKGARHLTCLNATQPFWDSKEPVCIAACGGVI
RNATTGRIVSPGFPGNYSNNLTCHWLLEAPEGQRLHLHFEKVSLAEDDDRLIIRNGDNVE
APPVYDSYEVEYLPIEGLLSSGKHFFVELSTDSSGAAAGMALRYEAFQQGHCYEPFVKYG
NFSSSTPTYPVGTTVEFSCDPGYTLEQGSIIIECVDPHDPQWNETEPACRAVCSGEITDS
AGVVLSPNWPEPYGRGQDCIWGVHVEEDKRIMLDIRVLRIGPGDVLTFYDGDDLTARVLG
QYSGPRSHFKLFTSMADVTIQFQSDPGTSVLGYQQGFVIHFFEVPRNDTCPELPEIPNGW
KSPSQPELVHGTVVTYQCYPGYQVVGSSVLMCQWDLTWSEDLPSCQRVTSCHDPGDVEHS
RRLISSPKFPVGATVQYICDQGFVLMGSSILTCHDRQAGSPKWSDRAPKCLLEQLKPCHG
LSAPENGARSPEKQLHPAGATIHFSCAPGYVLKGQASIKCVPGHPSHWSDPPPICRAASL
DGFYNSRSLDVAKAPAASSTLDAAHIAAAIFLPLVAMVLLVGGVYFYFSRLQGKSSLQLP
RPRPRPYNRITIESAFDNPTYETGSLSFAGDERI

Sequence length

994

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Childhood-onset schizophrenia	Likely pathogenic	rs863223347	RCV000202350	★★★★★ ★★★★☆ 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.
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic hearing impairment	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA, CHILDHOOD	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	26950848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36581948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17086543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	LHGDN	17086543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	17086543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36465614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30309378, 31711114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22972171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	29979789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia Childhood	Schizophrenia	Pubtator	26508570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	CLINVAR_DG	26508570		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	35642431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33530209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SEZ6 (seizure related 6 homolog)