Gene Report

Basic Info
Approved Symbol KCNQ2
Previous Symbol EBN, EBN1
Symbol Alias Kv7.2, ENB1, BFNC, KCNA11, HNSPC
Approved Name potassium channel, voltage gated KQT-like subfamily Q, member 2
Previous Name potassium voltage-gated channel, KQT-like subfamily, member 2
Location 20q13.33
Position chr20:63400210-63472677, -1
External Links HGNC: 6296
Entrez Gene: 3785
Ensembl: ENSG00000075043
UCSC: uc002yey.1
No. of Studies 1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ? NO
Overlap with MDD? NO
Gene related studies (count: 1)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Borsotto, M., 2007 Other variant: KCNQ2_3'end_30-15/54, KCNQ2_3'end_30-84/37, KCNQ2_5'end_4/30/1958, KCNQ2_Intron4_30-17/37, KCNQ2_Intron12_7/30/1930, KCNQ2_Intron_30-2/62 The association results show that the KCNQ2 gene is associated with BD. The PP2A-Bgamma subunit significantly increases the current generated by KCNQ2wt, a channel normally inhibited by phosphorylation. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 16)

GO terms by PBA (count: 10)

GO terms by database search (count: 6)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Related other genetic factors
Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 6)

Gene related regions (count: 3)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Gene relationship with MDD

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Region: chr20:63400210..63472677 View in gBrowse
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