protein
Heterogeneous nuclear ribonucleoprotein H2
aka hnRNP H2
Gene
HNRNPH2
Organism
Homo sapiens(9606)
Length
449 aa
Mass
49,264 Da
HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2) is a 449-amino acid protein component of hnRNP complexes involved in pre-mRNA processing (UniProt: P55795). The protein binds poly(RG) sequences and facilitates the processing events necessary to convert pre-mRNAs into mature, translatable mRNA molecules in the cytoplasm.
HNRNPH2 is implicated in intellectual developmental disorder, X-linked, syndromic, Bain type (MRXSB), a condition affecting females and characterized by developmental delay, intellectual disability, hypotonia, seizures, and dysmorphic facial features. Pathogenic variants in HNRNPH2 disrupt normal mRNA processing and contribute to this neurodevelopmental phenotype.
HNRNPH2 is curated in the SFARI database as a Category 2 (strong candidate) autism gene associated with syndromic presentations (SFARI Cat 2). The gene's involvement in autism is most clearly documented in the context of MRXSB, where autism spectrum features co-occur with other developmental and neurological manifestations related to impaired pre-mRNA processing.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↓ Down in ADP3
-0.245
P2
not detected
S2
not detected
S3
not detected
Mean log₂FC across detected fractions: -0.2447 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
This protein is implicated in both ASD and Alzheimer's Disease. View all cross-disease proteins →
Related Publications
Browse all →Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.
Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG)
Disease associations
Intellectual developmental disorder, X-linked, syndromic, Bain typeMRXSB
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features. Only females are affected.
Sources
Last updated 5/8/2026, 1:07:17 AM