Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	79953
Gene name	Synapse differentiation inducing 1
Gene symbol	SYNDIG1
Synonyms (NCBI Gene)	C20orf39DSPC2IFITMD5TMEM90B
Chromosome	20
Chromosome location	20p11.21
Summary	This gene encodes a protein that belongs to the interferon-induced transmembrane family of proteins. A similar protein in rat is thought to regulate the development of excitatory synapses. [provided by RefSeq, Jul 2013]

72 Show/Hide all (72)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050847	hsa-miR-17-5p	CLASH	23622248
MIRT1405619	hsa-miR-103a	CLIP-seq
MIRT1405620	hsa-miR-107	CLIP-seq
MIRT1405621	hsa-miR-1179	CLIP-seq
MIRT1405622	hsa-miR-1207-5p	CLIP-seq
MIRT1405623	hsa-miR-1269	CLIP-seq
MIRT1405624	hsa-miR-1269b	CLIP-seq
MIRT1405625	hsa-miR-1285	CLIP-seq
MIRT1405626	hsa-miR-1288	CLIP-seq
MIRT1405627	hsa-miR-129-5p	CLIP-seq
MIRT1405628	hsa-miR-15a	CLIP-seq
MIRT1405629	hsa-miR-15b	CLIP-seq
MIRT1405630	hsa-miR-16	CLIP-seq
MIRT1405631	hsa-miR-195	CLIP-seq
MIRT1405632	hsa-miR-2355-3p	CLIP-seq
MIRT1405633	hsa-miR-2467-3p	CLIP-seq
MIRT1405634	hsa-miR-25	CLIP-seq
MIRT1405635	hsa-miR-3121-5p	CLIP-seq
MIRT1405636	hsa-miR-3124-3p	CLIP-seq
MIRT1405637	hsa-miR-3149	CLIP-seq
MIRT1405638	hsa-miR-3158-5p	CLIP-seq
MIRT1405639	hsa-miR-3159	CLIP-seq
MIRT1405640	hsa-miR-3187-5p	CLIP-seq
MIRT1405641	hsa-miR-32	CLIP-seq
MIRT1405642	hsa-miR-3202	CLIP-seq
MIRT1405643	hsa-miR-326	CLIP-seq
MIRT1405644	hsa-miR-330-5p	CLIP-seq
MIRT1405645	hsa-miR-363	CLIP-seq
MIRT1405646	hsa-miR-367	CLIP-seq
MIRT1405647	hsa-miR-3678-3p	CLIP-seq
MIRT1405648	hsa-miR-378g	CLIP-seq
MIRT1405649	hsa-miR-3909	CLIP-seq
MIRT1405650	hsa-miR-424	CLIP-seq
MIRT1405651	hsa-miR-4274	CLIP-seq
MIRT1405652	hsa-miR-4310	CLIP-seq
MIRT1405653	hsa-miR-4325	CLIP-seq
MIRT1405654	hsa-miR-4486	CLIP-seq
MIRT1405655	hsa-miR-4490	CLIP-seq
MIRT1405656	hsa-miR-4503	CLIP-seq
MIRT1405657	hsa-miR-4515	CLIP-seq
MIRT1405658	hsa-miR-4519	CLIP-seq
MIRT1405659	hsa-miR-451b	CLIP-seq
MIRT1405660	hsa-miR-452	CLIP-seq
MIRT1405661	hsa-miR-4520b-3p	CLIP-seq
MIRT1405662	hsa-miR-4524	CLIP-seq
MIRT1405663	hsa-miR-4529-3p	CLIP-seq
MIRT1405664	hsa-miR-4533	CLIP-seq
MIRT1405665	hsa-miR-4676-3p	CLIP-seq
MIRT1405666	hsa-miR-4736	CLIP-seq
MIRT1405667	hsa-miR-4740-5p	CLIP-seq
MIRT1405668	hsa-miR-4763-3p	CLIP-seq
MIRT1405669	hsa-miR-4774-5p	CLIP-seq
MIRT1405670	hsa-miR-4780	CLIP-seq
MIRT1405671	hsa-miR-497	CLIP-seq
MIRT1405672	hsa-miR-568	CLIP-seq
MIRT1405673	hsa-miR-587	CLIP-seq
MIRT1405674	hsa-miR-612	CLIP-seq
MIRT1405675	hsa-miR-623	CLIP-seq
MIRT1405676	hsa-miR-676	CLIP-seq
MIRT1405677	hsa-miR-92a	CLIP-seq
MIRT1405678	hsa-miR-92b	CLIP-seq
MIRT2121639	hsa-miR-1266	CLIP-seq
MIRT2121640	hsa-miR-3194-3p	CLIP-seq
MIRT2121641	hsa-miR-3664-3p	CLIP-seq
MIRT2121642	hsa-miR-4518	CLIP-seq
MIRT1405621	hsa-miR-1179	CLIP-seq
MIRT1405635	hsa-miR-3121-5p	CLIP-seq
MIRT1405636	hsa-miR-3124-3p	CLIP-seq
MIRT1405652	hsa-miR-4310	CLIP-seq
MIRT1405655	hsa-miR-4490	CLIP-seq
MIRT1405656	hsa-miR-4503	CLIP-seq
MIRT1405669	hsa-miR-4774-5p	CLIP-seq

42 Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006886	Process	Intracellular protein transport	ISS
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	ISS
GO:0035254	Function	Glutamate receptor binding	IEA
GO:0035254	Function	Glutamate receptor binding	ISS
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0043198	Component	Dendritic shaft	IEA
GO:0043198	Component	Dendritic shaft	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0044297	Component	Cell body	IEA
GO:0044297	Component	Cell body	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IBA
GO:0051965	Process	Positive regulation of synapse assembly	IDA	20152115
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0060076	Component	Excitatory synapse	IBA
GO:0060076	Component	Excitatory synapse	IEA
GO:0060076	Component	Excitatory synapse	ISS
GO:0097091	Process	Synaptic vesicle clustering	IBA
GO:0097091	Process	Synaptic vesicle clustering	IEA
GO:0097091	Process	Synaptic vesicle clustering	ISS
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0150052	Process	Regulation of postsynapse assembly	IEA

MIM	HGNC	e!Ensembl
614311	15885	ENSG00000101463

Q9H7V2

Protein name

Synapse differentiation-inducing gene protein 1 (SynDIG1) (Dispanin subfamily C member 2) (DSPC2) (Transmembrane protein 90B)

Protein function

May regulate AMPA receptor content at nascent synapses, and have a role in postsynaptic development and maturation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04505	CD225	177 → 244	Interferon-induced transmembrane protein	Family

Sequence

MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPA
SLDSSRSEPMQQLLDPNTLQQSVESRYRPNIILYSEGVLRSWGDGVAADCCETTFIEDRS
PTKDSLEYPDGKFIDLSADDIKIHTLSYDVEEEEEFQELESDYSSDTESEDNFLMMPPRD
HLGLSVFSMLCCFWPLGIAAFYLSHETNKAVAKGDLHQASTSSRRALFLAVLSITIGTGV
YVGVAVALIAYLSKNNHL

Sequence length

258

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (14)
BIPOLAR DISORDER	—	GWAS catalog	20889312	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	34834492	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	32701715	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	20889312	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	28935272	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	28935272	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTAL DISORDER	—	GWAS catalog	39192244	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	39192244	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	20889312	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYMPTOMS OF DEPRESSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	35893037, 39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

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	39177846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32514046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	22220189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22220189		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	22220189	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SYNDIG1 (synapse differentiation inducing 1)

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