HIVEP2 HIVEP zinc finger 2
Gene ID: 3097, updated on 3-Apr-2024Gene type: protein coding
Also known as: SHN2; ZAS2; MBP-2; MIBP1; MRD43; ZNF40B; HIV-EP2
- See all available tests in GTR for this gene
- Go to complete Gene record for HIVEP2
- Go to Variation Viewer for HIVEP2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. GeneReviews: Not available | |
| Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries. GeneReviews: Not available | |
| Intellectual disability, autosomal dominant 43 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2018-04-25) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2018-04-25) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 6q24.2
- Sequence:
- Chromosome: 6; NC_000006.12 (142751469..142946365, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HIVEP2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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