• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
EVX2 (HGNC:3507) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
even-skipped homeobox 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
19.69(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.4(Read more about gnomAD pLI score)
LOEUF
0.68(Read more about gnomAD LOEUF score)
Cytoband
2q31.1
Genomic Coordinates
GRCh37/hg19: chr2:176944835-176948690 NCBI Ensembl UCSC
GRCh38/hg38: chr2:176077472-176083962 NCBI Ensembl UCSC
MANE Select Transcript
NM_001080458.2 ENST00000308618.5 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15866
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
04/04/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
No disease association with just EVX2, but a 117 kb microdeletion at the 5' end of the HOXD gene cluster, which includes EVX2 and the HOXD9-HOXD13 genes, causes synpolydactyly (SPD), a dominantly inherited disease resulting in limb malformation. For more information, see PMID:11778160.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)