Gene Gene information from NCBI Gene database.
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]
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614311 15885 ENSG00000101463
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
YVGV
AVALIAYLSKNNHL
Sequence length 258
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
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
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
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