DISC1 (DISC1 scaffold protein)

2007-02-01  

Identity

HGNC
LOCATION
1q42.2
LOCUSID
ALIAS
C1orf136,SCZD9
FUSION GENES

Other Information

Locus ID:

NCBI: 27185
MIM: 605210
HGNC: 2888
Ensembl: ENSG00000162946

Variants:

dbSNP: 27185
ClinVar: 27185
TCGA: ENSG00000162946
COSMIC: DISC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162946ENST00000295051C4P093
ENSG00000162946ENST00000317586Q9NRI5
ENSG00000162946ENST00000366632C4P092
ENSG00000162946ENST00000366633Q9NRI5
ENSG00000162946ENST00000366636Q9NRI5
ENSG00000162946ENST00000366637Q9NRI5
ENSG00000162946ENST00000422590H0Y7U2
ENSG00000162946ENST00000439617Q9NRI5
ENSG00000162946ENST00000535944C4P0B0
ENSG00000162946ENST00000535983Q9NRI5
ENSG00000162946ENST00000537876C4P0B1
ENSG00000162946ENST00000539444Q9NRI5
ENSG00000162946ENST00000602281Q9NRI5
ENSG00000162946ENST00000602700Q9NRI5
ENSG00000162946ENST00000602713Q9NRI5
ENSG00000162946ENST00000602822Q9NRI5
ENSG00000162946ENST00000602873Q9NRI5
ENSG00000162946ENST00000620189A0A087WYX6
ENSG00000162946ENST00000622252C4P0A0
ENSG00000162946ENST00000628350Q9NRI5

Expression (GTEx)

0
1
2
3
4
5
6
7

References

Pubmed IDYearTitleCitations
185839792008Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.395
193038462009Disrupted in schizophrenia 1 regulates neuronal progenitor proliferation via modulation of GSK3beta/beta-catenin signaling.334
162937622005DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling.220
179122482008The DISC locus in psychiatric illness.206
220950642011Linking neurodevelopmental and synaptic theories of mental illness through DISC1.180
170436772007Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia.176
159398832005Variation in DISC1 affects hippocampal structure and function and increases risk for schizophrenia.142
125061982003Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth.126
162758082005Association of DISC1/TRAX haplotypes with schizophrenia, reduced prefrontal gray matter, and impaired short- and long-term memory.117
128129862003DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation.116

Citation

Dessen P

DISC1 (DISC1 scaffold protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46081/disc1