Gene: EDAR

Alternate names for this Gene: DL|ECTD10A|ECTD10B|ED1R|ED3|ED5|EDA-A1R|EDA1R|EDA3|HRM1

Gene Summary: 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, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia.

Gene is located in Chromosome: 2

Location in Chromosome : 2q13

Description of this Gene: ectodysplasin A receptor

Type of Gene: protein-coding

Gene: RANBP2

Alternate names for this Gene: ADANE|ANE1|IIAE3|NUP358|TRP1|TRP2

Gene Summary: RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex. The protein is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. The encoded protein directly interacts with the E2 enzyme UBC9 and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100. These findings place sumoylation at the cytoplasmic filaments of the nuclear pore complex and suggest that, for some substrates, modification and nuclear import are linked events. This gene is partially duplicated in a gene cluster that lies in a hot spot for recombination on chromosome 2q.

Gene is located in Chromosome: 2

Location in Chromosome : 2q13

Description of this Gene: RAN binding protein 2

Type of Gene: protein-coding

rs121908453 in EDAR;RANBP2 gene and ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT PMID 18231121 2008 Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

PMID 10431241 1999 Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.

PMID 16435307 2006 Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.

PMID 22032522 2012 A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.

rs121908452 in EDAR;RANBP2 gene and ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE PMID 27305980 2016 Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

PMID 26336973 2015 Hair shaft structures in EDAR induced ectodermal dysplasia.

PMID 17125505 2006 EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

PMID 10431241 1999 Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.

PMID 24884697 2014 EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.

PMID 16435307 2006 Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.

PMID 16029325 2005 Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.

PMID 15373768 2004 A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.

PMID 27657131 2016 Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.

PMID 19438931 2009 Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.

PMID 20979233 2011 Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

PMID 18231121 2008 Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

PMID 24641098 2015 Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.

PMID 23401279 2013 Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

PMID 22032522 2012 A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.

rs1558793621 in EDAR;RANBP2 gene and ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT PMID 24641098 2015 Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.

PMID 23401279 2013 Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

rs1553445945 in EDAR;RANBP2 gene and Ectodermal Dysplasia PMID 16435307 2006 Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.