• 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)