KDM3A
Homo sapiens
Gene Name: lysine demethylase 3A
Aliases: JHDM2A, JHMD2A, JMJD1, JMJD1A, TSGA
Chromosome No: 2
Chromosome Band: 2p11.2
Genetic Category: Rare single gene variant
Aliases: JHDM2A, JHMD2A, JMJD1, JMJD1A, TSGA
Chromosome No: 2
Chromosome Band: 2p11.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 18
Associated CNVs: 1
Evidence score: 3
ASD Reports: 4
Recent Reports: 0
Annotated variants: 18
Associated CNVs: 1
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Multiple de novo variants in the KDM3A gene, including a de novo loss-of-function (LoF) variant, have been reported in ASD probands (De Rubeis et al., 2014; Zhou et al., 2022; Trost et al., 2022; More et al., 2023).
Molecular Function
This gene encodes a zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Genomic architecture of autism from comprehensive whole-genome sequence annotation
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1386R002
missense_variant
c.1756G>A
p.Val586Ile
Familial
Paternal
Simplex
GEN1386R004
missense_variant
c.3526A>G
p.Ile1176Val
Familial
Paternal
Simplex
GEN1386R005
missense_variant
c.3797C>G
p.Ser1266Cys
Familial
Maternal
Simplex
GEN1386R006
missense_variant
c.2191C>T
p.Leu731Phe
Familial
Maternal
Simplex
GEN1386R007
frameshift_variant
c.3948del
p.Ser1317ValfsTer13
Unknown
Unknown
Common
No Common Variants Available
