VSX2

Protein identityUniProt · HPA

UniProt accession

P58304

Gene

VSX2

Ensembl

ENSG00000119614

Chromosome

14

Canonical length

361 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

361 residues, UniProt reviewed canonical sequence.

>P58304|VSX2
     1  MTGKAGEALS KPKSETVAKS TSGGAPARCT GFGIQEILGL NKEPPSSHPR AALDGLAPGH
    61  LLAARSVLSP AGVGGMGLLG PGGLPGFYTQ PTFLEVLSDP QSVHLQPLGR ASGPLDTSQT
   121  ASSDSEDVSS SDRKMSKSAL NQTKKRKKRR HRTIFTSYQL EELEKAFNEA HYPDVYAREM
   181  LAMKTELPED RIQVWFQNRR AKWRKREKCW GRSSVMAEYG LYGAMVRHSI PLPESILKSA
   241  KDGIMDSCAP WLLGMHKKSL EAAAESGRKP EGERQALPKL DKMEQDERGP DAQAAISQEE
   301  LRENSIAVLR AKAQEHSTKV LGTVSGPDSL ARSTEKPEEE EAMDEDRPAE RLSPPQLEDM
   361  A

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VSX2 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)

0.61

Highest tissue expression

68 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VSX2.

Disease | AllUniProt

Conditions VSX2 is implicated in, by any mechanism.

• Microphthalmia, isolated, 2 (MCOP2) MIM:610093
• Microphthalmia with cataracts and iris abnormalities (MCOPCTI) MIM:610092
• Microphthalmia/Coloboma 3 (MCOPCB3) MIM:610092

Disease | GeneticClinVar

53 pathogenic / likely-pathogenic of 533 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Isolated microphthalmia 2
• Microphthalmia
• Microphthalmia, isolated, with coloboma 3
• Microphthalmia, cataracts, and iris abnormalities
• VSX2-related Microphthalmia

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)

1.04

gnomAD pLI

0

gnomAD missense Z

0.56

DepMap mean gene effect

-0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell fate commitment
• central nervous system neuron differentiation
• negative regulation of neuroblast proliferation
• negative regulation of transcription by RNA polymerase II
• neuroblast proliferation
• positive regulation of cell population proliferation
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• retinal bipolar neuron differentiation
• visual perception

Molecular functions

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

Cellular components

• chromatin
• cytoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• OAR domain
• Homedomain-like superfamily
• Homeobox, conserved site
• CVC domain
• Homeodomain
• OAR motif
• Visual system homeobox transcriptional regulators

KeywordsUniProt

• Activator
• Cataract
• Developmental protein
• DNA-binding
• Homeobox
• Microphthalmia
• Nucleus
• Repressor
• Sensory transduction
• Transcription
• Transcription regulation
• Vision

InteractionsUniProt · HPA

Protein binding partners of VSX2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MITF