BAIT

WDR37

RP11-529L18.2
WD repeat domain 37
UPS Project
GO Process (0)
GO Function (0)
GO Component (0)
Homo sapiens
PREY

EIF4G3

eIF-4G 3, eIF4G 3, eIF4GII, RP11-190H11.1
eukaryotic translation initiation factor 4 gamma, 3
GO Process (2)
GO Function (3)
GO Component (2)

Gene Ontology Biological Process

Gene Ontology Molecular Function

Gene Ontology Cellular Component

Homo sapiens

Two-hybrid

Bait protein expressed as a DNA binding domain (DBD) fusion and prey expressed as a transcriptional activation domain (TAD) fusion and interaction measured by reporter gene activation.

Publication

WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.

Sorokina EA, Reis LM, Thompson S, Agre K, Babovic-Vuksanovic D, Ellingson MS, Hasadsri L, van Bever Y, Semina EV

Missense variants located in the N-terminal region of WDR37 were recently identified to cause a multisystemic syndrome affecting neurological, ocular, gastrointestinal, genitourinary, and cardiac development. WDR37 encodes a WD40 repeat-containing protein of unknown function. We identified three novel WDR37 variants, two likely pathogenic de novo alleles and one inherited variant of uncertain significance, in individuals with phenotypes overlapping those previously ... [more]

Hum Genet Dec. 01, 2021; 140(12);1775-1789 [Pubmed: 34642815]

Throughput

  • High Throughput

Curated By

  • BioGRID