HIVEP2 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- HIVEP2 (HGNC:4921) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- HIVEP zinc finger 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B
- %HI
- 13.96(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.08(Read more about gnomAD LOEUF score)
- Cytoband
- 6q24.2
- Genomic Coordinates
-
GRCh37/hg19: chr6:143072606-143266313 NCBI Ensembl UCSC GRCh38/hg38: chr6:142751469-142946365 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006734.4 ENST00000367603.8 (Read more about MANE Select)
- Function
- This protein specifically binds to the DNA sequence 5'- GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon-beta genes. It may act in T- cell activation. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-34743
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/25/2018
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- intellectual disability, autosomal dominant 43 Monarch
HI Evidence:
-
PUBMED:
27003583
Steinfeld et al. Used whole exome sequencing (WES) to study 3,699 patients with neuro-developmental disorders. A total of six unrelated patients were found to have heterozygous de novo variants in HIVPE2. Five of the patients had predicted loss-of-function variants: 2 nonsense and 3 frameshift. The Sixth had a missense variant that is predicted to be damaging. The patients phenotype included developmental delay, intellectual disability and dysmorphic features.
-
PUBMED:
26153216
Srivastava et al., 2015. Used whole exome sequencing (WES) to study patients with ID or global developmental delay at different centers. Three patients were identified with de novo loss-of-function variants in HIVEP2 and confirmed by Sanger sequencing. 2 were nonsense and 1 was a 1bp deletion resulting in a premature stop codon. All patients presented intellectual disability, hypotonia, and dysmorphic features.
-
PUBMED:
23020937
Rauch et al., 2012; Studied 51 patients from the German Mental Retardation Network. They reported a de novo frameshift variant in HIVEP2 identified by whole exome sequencing (WES) in a patient with non-specific intellectual disability.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No duplications involving only the entire HIVEP2 gene reported.
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)