Summary Statistics:
Gene Score: S
Relevance to Autism
Mutations in the HIVEP2 gene are associated with a form of autosomal dominant intellectual disability (MRD43; OMIM 616977); affected individuals frequently display behavioral abnormalities, and autism or autistic features have been observed in a subset of individuals with this disorder (Srivastava et al., 2016; Steinfeld et al., 2016; Goldsmith et al., 2019; Jain and Atwal 2019; Park et al., 2019). Hivep2-deficient mice have been shown to display schizophrenia-like behavioral abnormalities (Takao et al., 2013; Choi et al., 2015; Nakao et al., 2017).
Molecular Function
This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence.
References
Primary
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
Autosomal dominant mental retardation-43 (MRD43)
ASD
Support
Clinical and Neuropsychological Phenotyping of Individuals With Somatic Variants in Neurodevelopmental Disorders
ASD, DD
Support
Loss-of-function variants in HIVEP2 are a cause of intellectual disability.
Autosomal dominant mental retardation-43 (MRD43)
Support
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies
Corpus callosum anomalies
DD
Support
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
ASD
Support
Deficiency of schnurri-2, an MHC enhancer binding protein, induces mild chronic inflammation in the brain and confers molecular, neuronal, and beha...
SCZ
Support
Genetic insights into autism spectrum disorder with intellectual disability: a regional population-based study from Northwest China.
ASD, ID
Support
Novel HIVEP2 Variants in Patients with Intellectual Disability.
Autosomal dominant mental retardation-43 (MRD43)
Support
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
ASD, DD, ID
Support
Genetic variants identification through whole-genome sequencing based on dried blood spots in 92 Chinese children with Autism.
ASD
Support
Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report.
Autosomal dominant mental retardation-43 (MRD43)
Support
Deleterious coding variation associated with autism is shared across ancestries.
ASD
Support
Expanding the phenotype of intellectual disability caused by HIVEP2 variants.
Autosomal dominant mental retardation-43 (MRD43)
Autistic features, stereotypy
Support
Integrating de novo and inherited variants in 42
ASD
Support
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy
ASD
Support
Immature morphological properties in subcellular-scale structures in the dentate gyrus of Schnurri-2 knockout mice: a model for schizophrenia and i...
SCZ
Support
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
DD, ID
Support
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders
DD, ID
Stereotypy
Support
Combined behavioral studies and in vivo imaging of inflammatory response and expression of mGlu5 receptors in schnurri-2 knockout mice.
SCZ
Support
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Epilepsy/seizures
DD
GEN1135R001
stop_gained
c.6475G>T
p.Gly2159Ter
De novo
GEN1135R002
stop_gained
c.2857G>T
p.Glu953Ter
De novo
GEN1135R003
frameshift_variant
c.5614dup
p.Glu1872GlyfsTer16
De novo
GEN1135R004
missense_variant
c.1189G>T
p.Asp397Tyr
De novo
GEN1135R005
frameshift_variant
c.6625dup
p.Tyr2209LeufsTer53
De novo
GEN1135R006
frameshift_variant
c.3434del
p.Pro1145ArgfsTer2
De novo
GEN1135R007
stop_gained
c.2827C>T
p.Arg943Ter
De novo
Simplex
GEN1135R008
stop_gained
c.3556C>T
p.Gln1186Ter
De novo
GEN1135R009
frameshift_variant
c.5737del
p.Asp1913MetfsTer15
De novo
Simplex
GEN1135R010
stop_gained
c.5935C>T
p.Arg1979Ter
De novo
GEN1135R011
frameshift_variant
c.2956_2957del
p.Glu986ArgfsTer4
De novo
GEN1135R012
stop_gained
c.3742C>T
p.Gln1248Ter
De novo
GEN1135R013
frameshift_variant
c.6609_6616del
p.Glu2204Ter
De novo
GEN1135R014
stop_gained
c.6667C>T
p.Arg2223Ter
De novo
Simplex
GEN1135R015
stop_gained
c.2827C>T
p.Arg943Ter
De novo
Simplex
GEN1135R016
missense_variant
c.3067C>T
p.His1023Tyr
Unknown
GEN1135R017
missense_variant
c.4928C>T
p.Thr1643Ile
De novo
Simplex
GEN1135R018
stop_gained
c.6007C>T
p.Gln2003Ter
De novo
GEN1135R019
stop_gained
c.3082C>T
p.Arg1028Ter
De novo
GEN1135R020
missense_variant
c.643C>T
p.Arg215Trp
De novo
GEN1135R021
missense_variant
c.3988C>G
p.Pro1330Ala
Familial
Maternal
Simplex
GEN1135R022
missense_variant
c.1816G>A
p.Val606Met
Familial
Paternal
Simplex
GEN1135R023
missense_variant
c.1707G>C
p.Arg569Ser
Unknown
Simplex
GEN1135R024
missense_variant
c.1502A>C
p.Glu501Ala
Unknown
GEN1135R025a
missense_variant
c.3383C>T
p.Pro1128Leu
Familial
GEN1135R025b
missense_variant
c.1471A>T
p.Ser491Cys
Familial
GEN1135R026
frameshift_variant
c.5150dup
p.Leu1718AlafsTer16
De novo
GEN1135R027
stop_gained
c.2827C>T
p.Arg943Ter
De novo
GEN1135R028
missense_variant
c.5807C>T
p.Thr1936Ile
Unknown
Not paternal
Simplex
GEN1135R029
missense_variant
c.5624A>C
p.Asn1875Thr
Unknown
GEN1135R030
missense_variant
c.7228T>C
p.Tyr2410His
De novo
Simplex
GEN1135R031
missense_variant
c.2994T>A
p.Asp998Glu
De novo
Simplex
GEN1135R032
stop_gained
c.3556C>T
p.Gln1186Ter
De novo
No Common Variants Available
No Interactions Available
