Harmonizome 3.0

aquaporin 2 (collecting duct)

This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]

CMT1A duplicated region transcript 15-like 2

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

CMT1A duplicated region transcript 4

CMT1A duplicated region transcript 5

CMT1A duplicated region transcript 7 (non-protein coding)

CMT1A duplicated region transcript 1

Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

CMT1A duplicated region transcript 2

CMT1A duplicated region transcript 8

zinc finger, X-linked, duplicated B

The ZXDB gene is one of a pair of duplicated zinc finger genes on chromosome Xp11.21 (Greig et al., 1993 [PubMed 8268913]); see also ZXDA (MIM 300235).[supplied by OMIM, Jul 2010]

zinc finger, X-linked, duplicated A

This gene encodes one of two duplicated zinc finger genes on chromosome Xp11. This gene is the telomeric copy; GeneID 158586 ZXDB is the more centromeric copy. The two genes have 98% nucleotide sequence similarity, and the predicted proteins contain 10 tandem zinc finger motifs. [provided by RefSeq, Nov 2009]

CMT1A duplicated region transcript 15

CMT1A duplicated region transcript 12

CMT1A duplicated region transcript 13

CMT1A duplicated region transcript 10

CMT1A duplicated region transcript 11

CMT1A duplicated region transcript 15 pseudogene 1

CMT1A duplicated region transcript 15 protein-like protein

CMT1A duplicated region transcript 3

CMT1A duplicated region transcript 15 pseudogene 2

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]