HIVEP2 Chromosome 6
HIVEP zinc finger 2
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What This Gene Does
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. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
6q24.2
Ensembl
ENSG00000010818
Associated Conditions (7)
Inborn genetic diseases
Intellectual disability
autosomal dominant 43
HIVEP2-related disorder
Congenital ocular coloboma
Angelman syndrome-like
Neurodevelopmental delay
Key Variants
RS1183001223
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1330118854
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1389261014
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1403489512
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 43, Intellectual disability
Health Risk
RS1428030956
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 43, Intellectual disability
Health Risk
RS1435738912
Conflicting classifications of pathogenicity
HIVEP2-related disorder, HIVEP2-related disorder
Health Risk
RS144077396
Conflicting classifications of pathogenicity
Health Risk
RS1774962105
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 43, Intellectual disability
Health Risk
RS1774968270
Conflicting classifications of pathogenicity
HIVEP2-related disorder, HIVEP2-related disorder
Health Risk
RS1775559365
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 43, Intellectual disability
Health Risk
RS1775590631
Conflicting classifications of pathogenicity
Health Risk
RS199829182
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
All Variants (118)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2482772626 | Health Risk | Pathogenic | — |
| RS2482772851 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 43, Intellectual disability |
| RS2482774022 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 43, Intellectual disability |
| RS2482819366 | Health Risk | Pathogenic | — |
| RS2482822001 | Health Risk | Pathogenic | — |
| RS2482830872 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2482835520 | Health Risk | Pathogenic | — |
| RS2482849173 | Health Risk | Pathogenic | — |
| RS2482856946 | Health Risk | Pathogenic | — |
| RS556673375 | Health Risk | Pathogenic | — |
| RS746033950 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 43, Intellectual disability |
| RS869312841 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 43, Inborn genetic diseases |
| RS869312842 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 43, Intellectual disability |
| RS869312843 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 43, Intellectual disability |
| RS869312844 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 43, Intellectual disability |
| RS869312847 | Health Risk | Pathogenic | HIVEP2-related disorder, Intellectual disability, autosomal dominant 43 |
| RS878853251 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 43, Intellectual disability |
| RS878853269 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 43, Intellectual disability |