Harmonizome 3.0

Skin/hair/eye pigmentation 8, freckling

ventral anterior homeobox 2

This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]

ventral anterior homeobox 1

This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

neuro-oncological ventral antigen 2

Enables sequence-specific mRNA binding activity. Involved in neuron differentiation and regulation of alternative mRNA splicing, via spliceosome. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

neuro-oncological ventral antigen 1

This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1

ash1 (absent, small, or homeotic)-like (Drosophila)

This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]

absent in melanoma 1-like

Predicted to enable carbohydrate binding activity. [provided by Alliance of Genome Resources, Mar 2025]

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene

absent in melanoma 1

Predicted to enable carbohydrate binding activity. [provided by Alliance of Genome Resources, Mar 2025]

absent in melanoma 2

AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]

ash2 (absent, small, or homeotic)-like (Drosophila)

Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Involved in positive regulation of cell population proliferation; response to estrogen; and transcription initiation-coupled chromatin remodeling. Acts upstream of or within DNA damage response. Located in nucleus. Part of MLL1 complex; MLL3/4 complex; and Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Mar 2025]