AlphaFold predicted structure
HNRNPH2 · P55795
Mean pLDDT
61.2/ 100
Low
449 residues
Confidence breakdown
- Very high(≥ 90)0%
- Confident(70–90)49%
- Low(50–70)11%
- Very low(< 50)40%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
HNRNPH2
Chr Xq22.1heterogeneous nuclear ribonucleoprotein H2
- Aliases:
- hnRNPH', FTP3, HNRPH'
- MANE:
- ENST00000316594.6
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Disease associations (Open Targets)
intellectual disability, X-linked, syndromic, Bain type
0.78X-linked syndromic intellectual disability
0.46neurodevelopmental disorder
0.46hereditary disease
0.44dengue disease
0.37X-linked complex neurodevelopmental disorder
0.37Neurodevelopmental delay
0.35stereotypic movement disorder
0.34Abnormal facial shape
0.34Fabry disease
0.18
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Heterogeneous nuclear ribonucleoprotein H2
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)