SEZ6 (seizure related 6 homolog)

Gene

• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 616666
• HGNC: 15955
• e!Ensembl: ENSG00000063015

Protein

• UniProt ID: 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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Childhood-onset schizophrenia	Likely pathogenic	rs863223347	RCV000202350

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Nonsyndromic hearing impairment	Uncertain significance	rs749349563	RCV001543100

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	26950848
Breast Neoplasms	Associate	36581948
Lupus Erythematosus Systemic	Associate	36465614
Mental Disorders	Associate	26508570, 33936031
Neoplasms	Associate	35642431
Schizophrenia Childhood	Associate	26508570
Small Cell Lung Carcinoma	Associate	35642431
Squamous Cell Carcinoma of Head and Neck	Associate	33530209