Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27185
Gene name Gene Name - the full gene name approved by the HGNC.
DISC1 scaffold protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DISC1
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf136, SCZD9
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SCZD9
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disru
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023117 hsa-miR-124-3p Microarray 18668037
MIRT643487 hsa-miR-545-3p HITS-CLIP 23824327
MIRT643486 hsa-miR-622 HITS-CLIP 23824327
MIRT643485 hsa-miR-136-5p HITS-CLIP 23824327
MIRT643484 hsa-miR-6845-3p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
ATF4 Unknown 12812986
ATF5 Unknown 12812986
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IMP 18955030
GO:0001764 Process Neuron migration IBA 21873635
GO:0001764 Process Neuron migration IMP 19502360
GO:0001954 Process Positive regulation of cell-matrix adhesion IEA
GO:0002052 Process Positive regulation of neuroblast proliferation IGI 19303846
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605210 2888 ENSG00000162946
Protein
UniProt ID Q9NRI5
Protein name Disrupted in schizophrenia 1 protein
Protein function Involved in the regulation of multiple aspects of embryonic and adult neurogenesis (PubMed:19303846, PubMed:19502360). Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the
PDB 5V4B
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in the dentate gyrus of the hippocampus. Also expressed in the temporal and parahippocampal cortices and cells of the white matter. {ECO:0000269|PubMed:16510495}.
Sequence
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPA
VGTLFRFPGGVSGEESHHSESRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGI
QLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASWEAACSDGARRVRAAGSLPSA
ELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ
SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPG
SSSSLDPSLAGCGGDGSSGSGDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKL
QEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPALSSFLGHLAAQVQAALRRGA
TQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE
AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPP
ETIRSLQERIKSLNLSLKEITTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNH
FWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLGSVKEDYNRLRREVEHQETAY
ETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDER
QMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQKEESYILSAELGE
KCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREA
AASCMTAGVHEAQA
Sequence length 854
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
17579608, 20002455
Mental retardation Profound Mental Retardation, Mental deficiency, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
20002455
Polymicrogyria Polymicrogyria rs1558010146, rs1558003446, rs1575508937
Unknown
Disease term Disease name Evidence References Source
Mental depression Mental Depression, Endogenous depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Depression, Neurotic, Major Depressive Disorder 25533973, 23602339, 22547224, 23011268, 22348257, 29643356, 25272038, 24934694, 25705664, 25043320, 25487992 ClinVar
Metabolic Syndrome Metabolic Syndrome GWAS
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWAS
Mental Depression Mental Depression GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 32345670
Alzheimer Disease Inhibit 34981809
Anhedonia Associate 24934694
Anxiety Associate 25533973
Anxiety Disorders Associate 25533973
Asperger Syndrome Associate 19251251, 21569632
Autism Spectrum Disorder Associate 19606485
Autistic Disorder Associate 19251251, 21569632
Bipolar Disorder Associate 15386212, 19251251, 19300510, 19448849, 21091867, 21483430, 23032945, 25620115, 26301809, 28630456
Carcinoma Hepatocellular Associate 35833210