| 1348155 | EDA | ectodysplasin A | The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | X | 69616113 | 70039472 | Human | 395 | symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1344270 | EDA2R | ectodysplasin A2 receptor | The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016] | X | 66595637 | 66639269 | Human | 129 | symbol , old_gene_name , COSMIC , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1344202 | EDAR | ectodysplasin A receptor | This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, t eeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008] | 2 | 108894471 | 108989220 | Human | 134 | symbol , old_gene_name , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 16571219 | AL158141.1 | novel transcript, antisense to EDA | | | | | Human | | name | gene, lncrna |
| 1351297 | EDARADD | EDAR associated via death domain | This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDA ;'>EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] | 1 | 236348259 | 236484930 | Human | 240 | symbol , old_gene_name , COSMIC , name , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1351335 | HEMGN | hemogen | Predicted to be involved in regulation of osteoblast differentiation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025] | 9 | 97926791 | 97944852 | Human | 49 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1347094 | IKBKG | inhibitor of nuclear factor kappa B kinase regulatory subunit gamma | This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016] | X | 154541238 | 154565046 | Human | 550 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 735440 | NFKBIA | NFKB inhibitor alpha | This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011] | 14 | 35401513 | 35404749 | Human | 1845 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1318163 | UBE2V2 | ubiquitin conjugating enzyme E2 V2 | Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008] | 8 | 47997437 | 48064708 | Human | 103 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
