Domain

Tumor necrosis factor receptor 27, N-terminal (IPR034060)

Short name: TNFRSF27_N

Domain relationships

None.

Description

TNFRSF27 (also known as ectodysplasin-A2 receptor (EDA2R), X-linked ectodermal dysplasia receptor (XEDAR), EDAA2R, EDA-A2R) is a member of the TNFR superfamily that is recognised by ectodysplasin-A2 (EDA-A2), which is generated by alternative splicing of the EDA receptor (EDAR) ligand EDA-A1 [PMID: 11039935]. It is highly expressed during embryonic development and binds to ectodysplasin-A2 (EDA-A2), playing a crucial role in the p53-signaling pathway. EDA2R is a direct p53 target that is frequently down-regulated in colorectal cancer tissues due to its epigenetic alterations or through the p53 gene mutations [PMID: 19543321, PMID: 20501644]. Mutations in the EDA-A2/XEDAR signaling give rise to ectodermal dysplasia, characterized by loss of hair, sweat glands, and teeth [PMID: 22889853]. A non-synonymous SNP on EDA2R, along with genetic variants in human androgen receptor is associated with androgenetic alopecia (AGA) [PMID: 18385763].

This entry represents the N-terminal domain of TNFRSF27/XEDAR. TNF-receptors are modular proteins. The N-terminal extracellular part contains a cysteine-rich region responsible for ligand-binding. This region is composed of small modules of about 40 residues containing 6 conserved cysteines; the number and type of modules can vary in different members of the family [PMID: 9538693, PMID: 8387891, PMID: 11796220].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
CDD