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EVX2 even-skipped homeobox 2 [ Homo sapiens (human) ]

Gene ID: 344191, updated on 13-Mar-2020

Summary

Official Symbol
EVX2provided by HGNC
Official Full Name
even-skipped homeobox 2provided by HGNC
Primary source
HGNC:HGNC:3507
See related
Ensembl:ENSG00000174279 MIM:142991
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
EVX-2
Summary
This gene is located at the 5' end of the HOXD gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. A 117 kb microdeletion at the 5' end of the HOXD gene cluster, which includes this gene and the HOXD9-HOXD13 genes, causes synpolydactyly, a dominantly inherited disease resulting in limb malformation. [provided by RefSeq, Sep 2009]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See EVX2 in Genome Data Viewer
Location:
2q31.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (176080107..176083962, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (176944835..176948690, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985830 Neighboring gene VISTA enhancer hs246 Neighboring gene NUP98-HOXD13 recombination region Neighboring gene homeobox D13

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

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-04-04)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-04-04)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Genome-wide association study of periodontal pathogen colonization.
NHGRI GWA Catalog

General gene information

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

Preferred Names
homeobox even-skipped homolog protein 2
Names
eve, even-skipped homeo box homolog 2
even-skipped homeo box 2 (homolog of Drosophila eve)

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_012893.1 RefSeqGene

    Range
    5001..8856
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080458.1NP_001073927.1  homeobox even-skipped homolog protein 2

    See identical proteins and their annotated locations for NP_001073927.1

    Status: REVIEWED

    Source sequence(s)
    AC009336
    Consensus CDS
    CCDS33333.1
    UniProtKB/Swiss-Prot
    Q03828
    Related
    ENSP00000312385.4, ENST00000308618.4
    Conserved Domains (1) summary
    pfam00046
    Location:192244
    Homeobox; Homeobox domain

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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    176080107..176083962 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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