1. Gene
  2. EVX2 - even-skipped homeobox 2 Gene

EVX2 - even-skipped homeobox 2 Gene

Homo sapiens

Also known as EVX-2

Gene ID: 344191 | Gene type: protein coding

About EVX2

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,077,472-176,083,962 (from NCBI)

This gene has 1 transcript (splice variant), 186 orthologues and 50 paralogues. Low expression observed in reference dataset.

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]

EVX2 Products(1)

mRNA Protein Name
NM_001080458.2 NP_001073927.1 homeobox even-skipped homolog protein 2

EVX2 Protein Structure

Homeobox

Homeobox: Homeobox domain (189 - 245)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 476 a.a.
Protein Preferred Names Protein Names

homeobox even-skipped homolog protein 2

eve, even-skipped homeo box homolog 2

Related Diseases

Diseases Alias
Synpolydactyly

Syndactyly Type 2

Syndactyly, Type 2

Spd

Split-Hand/Foot Malformation 6

Split Hand-Foot Malformation 6

SHFM6

Ectrodactyly, Autosomal Recessive

Ectrodactyly Autosomal Recessive

Split-Hand/Foot Malformation, Type 6

Split-Hand/Foot Malformation 5

Split Hand-Foot Malformation 5

SHFM5

Split-Hand/Foot Malformation 2

SHFM2

Shfd2

Shsf2

Split Hand/Foot Malformation 2

Split Hand-Foot Malformation 2

Split-Hand/Split-Foot Anomaly, X-Linked

Split-Hand/Foot Deformity 2

Split Hand/Foot Malformation X-Linked

Split Hand Foot Anomaly - X-Linked

Split Hand Foot Deformity 2

Brachydactyly, Type A3

Brachydactyly Type A3

BDA3

Brachydactyly-Clinodactyly

Brachymesophalangy V

Brachymesophalangy 5

Brachydactyly Clinodactyly

Split-Hand/Foot Malformation 4

SHFM4

Split Hand-Foot Malformation 4

Split-Hand/Foot Malformation, Type 4

Split Hand-Foot Malformation

Ectrodactyly

Split-Hand/Foot Malformation

Lobster-Claw Deformity

Split-Hand Deformity

Split Hand Foot Malformation

Shfm

Split Hand Foot Deformity

Split Hand Foot Deformity 1

Brachydactyly, Type D

Brachydactyly Type D

BDD

Stub Thumb

Brachydactyly D

Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus EVX2 VGNC VGNC:106727
Rattus norvegicus EVX2 RGD RGD:1305594
Macaca mulatta EVX2 VGNC VGNC:104527
Felis catus EVX2 VGNC VGNC:61993
Canis familiaris EVX2 VGNC VGNC:40507
Mus musculus EVX2 MGD MGI:95462