EVX2

Protein identityUniProt · HPA

UniProt accession

Q03828

Gene

EVX2

Ensembl

ENSG00000174279

Chromosome

2

Canonical length

476 aa

Protein class

Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

476 residues, UniProt reviewed canonical sequence.

>Q03828|EVX2
     1  MMERIRKEMI LMERGLHSPT AGKRFSNLSN SAGNAVLEAL ENSQHPARLS PRLPSAPLHS
    61  ALGELPAKGK FEIDTLFNLQ HTGSESTVSS EISSAAESRK KPGHYSEAAA EADMSSDVEV
   121  GCSALRSPGG LGAAQLKENN GKGYAESGSA AGTTTSASGS GLGSLHGGSG GSGGSAALGG
   181  SGSGADQVRR YRTAFTREQI ARLEKEFYRE NYVSRPRRCE LAAALNLPET TIKVWFQNRR
   241  MKDKRQRLAM SWPHPADPSF YTYMMTHAAA TGSLPYPFHS HVPLHYYPHV GVTAAAAAAA
   301  ASGAAAAASS PFATSIRPLD TFRALSHPYS RPELLCSFRH PGLYQAPAAA AGLNSAASAA
   361  AAAAAAAAAA SSAAAAGAPP SGGSAPCSCL SCHSSQSAAA AAAAAAAALG SRGGGGGGGG
   421  GGGGGGGGAG AGGGSDFGCS AAAPRSESGF LPYSAAVLSK TAVSPPDQRD EAPLTR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EVX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.69

Highest tissue expression

2.8 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EVX2.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 105 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Synpolydactyly type 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.68

gnomAD pLI

0.4

gnomAD missense Z

0.15

DepMap mean gene effect

0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• limb morphogenesis
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeodomain, metazoa
• Even-skipped homeobox domain-containing protein
• Homeodomain

KeywordsUniProt

• Developmental protein
• DNA-binding
• Homeobox
• Nucleus