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HIVEP2 HIVEP zinc finger 2 [ Homo sapiens (human) ]

Gene ID: 3097, updated on 1-Jun-2020

Summary

Official Symbol
HIVEP2provided by HGNC
Official Full Name
HIVEP zinc finger 2provided by HGNC
Primary source
HGNC:HGNC:4921
See related
Ensembl:ENSG00000010818 MIM:143054
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SHN2; ZAS2; MBP-2; MIBP1; MRD43; ZNF40B; HIV-EP2
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]
Expression
Ubiquitous expression in brain (RPKM 14.4), ovary (RPKM 8.2) and 25 other tissues See more
Orthologs

Genomic context

See HIVEP2 in Genome Data Viewer
Location:
6q24.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (142751469..142945756, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (143072604..143267495, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene adhesion G protein-coupled receptor G6 Neighboring gene Sharpr-MPRA regulatory regions 3748 and 6738 Neighboring gene uncharacterized LOC153910 Neighboring gene uncharacterized LOC107986655 Neighboring gene long intergenic non-protein coding RNA 1277

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal dominant 43
MedGen: C4310771 OMIM: 616977 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-04-25)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2018-04-25)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
NHGRI GWA Catalog
Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
transcription factor HIVEP2
Names
MHC binding protein-2
Schnurri-2
c-myc intron binding protein 1
human immunodeficiency virus type I enhancer binding protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047004.1 RefSeqGene

    Range
    5001..198735
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006734.4NP_006725.3  transcription factor HIVEP2

    See identical proteins and their annotated locations for NP_006725.3

    Status: REVIEWED

    Source sequence(s)
    AA041301, AA465317, AL023584, AW197846, CR936782, DA216380, X65644
    Consensus CDS
    CCDS43510.1
    UniProtKB/Swiss-Prot
    P31629
    Related
    ENSP00000356575.2, ENST00000367603.8
    Conserved Domains (5) summary
    sd00017
    Location:191211
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:18011821
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:17991821
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:204228
    zf-H2C2_2; Zinc-finger double domain
    cl25751
    Location:20292255
    DUF4045; Domain of unknown function (DUF4045)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    142751469..142945756 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446418.1XP_024302186.1  transcription factor HIVEP2 isoform X1

    Conserved Domains (5) summary
    sd00017
    Location:191211
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:18011821
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:17991821
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:204228
    zf-H2C2_2; Zinc-finger double domain
    cl25751
    Location:20292255
    DUF4045; Domain of unknown function (DUF4045)
  2. XM_024446419.1XP_024302187.1  transcription factor HIVEP2 isoform X1

    Related
    ENSP00000012134.2, ENST00000012134.7
    Conserved Domains (5) summary
    sd00017
    Location:191211
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:18011821
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:17991821
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:204228
    zf-H2C2_2; Zinc-finger double domain
    cl25751
    Location:20292255
    DUF4045; Domain of unknown function (DUF4045)
  3. XM_024446417.1XP_024302185.1  transcription factor HIVEP2 isoform X1

    Conserved Domains (5) summary
    sd00017
    Location:191211
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:18011821
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:17991821
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:204228
    zf-H2C2_2; Zinc-finger double domain
    cl25751
    Location:20292255
    DUF4045; Domain of unknown function (DUF4045)
  4. XM_024446416.1XP_024302184.1  transcription factor HIVEP2 isoform X1

    Conserved Domains (5) summary
    sd00017
    Location:191211
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:18011821
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:17991821
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:204228
    zf-H2C2_2; Zinc-finger double domain
    cl25751
    Location:20292255
    DUF4045; Domain of unknown function (DUF4045)
  5. XM_017010805.1XP_016866294.1  transcription factor HIVEP2 isoform X1

    UniProtKB/Swiss-Prot
    P31629
    Related
    ENSP00000356576.1, ENST00000367604.6
    Conserved Domains (5) summary
    sd00017
    Location:191211
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:18011821
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:17991821
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:204228
    zf-H2C2_2; Zinc-finger double domain
    cl25751
    Location:20292255
    DUF4045; Domain of unknown function (DUF4045)
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