KCNH7potassium voltage-gated channel subfamily H member 7
Autism Reports / Total Reports
7 / 11Rare Variants / Common Variants
13 / 0Aliases
-Associated Syndromes
-Chromosome Band
2q24.2Associated Disorders
-Relevance to Autism
In a study demonstrating that parvalbumin (PV) and somatostatin (SST) interneurons differentially contribute to the regulation of social interactions, Qi et al., 2025 found that, in a Shank3-deficient autistic mouse model, the expression of Kcnh7 was reduced in both PV and SST interneurons; furthermore, the authors observed that knocking out Kcnh7 in either interneuron subtype leads to social interaction deficits. KCNH7 was first proposed as an ASD candidate gene based on the nominal association of rare exonic and nonsynonymous variants in this gene with ASD in a gene-based rare variant association study of 2071 ASD cases and 904 controls in Griswold et al., 2015. More recently, a total of five damaging de novo missense variants in the KCNH7 gene have been reported in ASD probands from the Autism Sequencing Consortium, the SPARK cohort, and a Korean ASD cohort (De Rubeis et al., 2014; Zhou et al., 2022; Kim et al., 2024). Rare variation in KCNH7 has also been reported to associate with bipolar disorder in the Amish population (Strauss et al., 2014) and more recently with epilepsy (Wu et al., 2024). KCNH7 was also found to associate with bipolar disorder in a case-control association study in a Taiwanese population (Kuo et al., 2014). Previous mouse studies of KCNH7 in Schwarz et al., 2024 reported that global knockout of Kcnh7 in mice resulted in Purkinje cell hyperexcitability and depressive-like behavior.
Molecular Function
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit.
External Links
SFARI Genomic Platforms
Reports related to KCNH7 (11 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Positive Assocation | - | P H Kuo et al. (2014) | No | - |
| 2 | Support | - | Kevin A Strauss et al. (2014) | No | Schizophrenia, MDD |
| 3 | Support | Synaptic, transcriptional and chromatin genes disrupted in autism | De Rubeis S , et al. (2014) | Yes | - |
| 4 | Positive Assocation | Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants | Griswold AJ , et al. (2015) | Yes | - |
| 5 | Support | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder | Takata A , et al. (2018) | Yes | - |
| 6 | Support | - | Zhou X et al. (2022) | Yes | - |
| 7 | Support | - | Trost B et al. (2022) | Yes | - |
| 8 | Support | - | Soo-Whee Kim et al. (2024) | Yes | - |
| 9 | Support | - | Jürgen R Schwarz et al. (2024) | No | - |
| 10 | Support | - | Fan Wu et al. (2024) | No | - |
| 11 | Primary | - | Chuchu Qi et al. (2025) | Yes | - |
Rare Variants (13)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.1324C>T | p.Arg442Ter | stop_gained | De novo | - | Simplex | 39634124 | Fan Wu et al. (2024) | |
| c.83A>G | p.Lys28Arg | missense_variant | De novo | - | Simplex | 39634124 | Fan Wu et al. (2024) | |
| c.1919A>G | p.Glu640Gly | missense_variant | De novo | - | Simplex | 39634124 | Fan Wu et al. (2024) | |
| c.361G>A | p.Val121Met | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.1206C>G | p.His402Gln | missense_variant | De novo | - | - | 25363760 | De Rubeis S , et al. (2014) | |
| c.1129G>T | p.Val377Phe | missense_variant | De novo | - | - | 39334436 | Soo-Whee Kim et al. (2024) | |
| c.1891G>A | p.Gly631Arg | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.1228T>C | p.Trp410Arg | missense_variant | De novo | - | Unknown | 35982159 | Zhou X et al. (2022) | |
| c.1701T>C | p.Ala567= | synonymous_variant | De novo | - | Multiplex | 36368308 | Trost B et al. (2022) | |
| c.2855T>G | p.Ile952Arg | missense_variant | De novo | - | Simplex | 29346770 | Takata A , et al. (2018) | |
| c.1181G>A | p.Arg394His | missense_variant | Familial | - | Multiplex | 24986916 | Kevin A Strauss et al. (2014) | |
| c.1181G>A | p.Arg394His | missense_variant | Familial | - | Extended multiplex | 24986916 | Kevin A Strauss et al. (2014) | |
| c.1181G>A | p.Arg394His | missense_variant | Familial | Maternal | Multi-generational | 24986916 | Kevin A Strauss et al. (2014) |
Common Variants
No common variants reported.