UBE2A

ubiquitin conjugating enzyme E2 A

Ensembl:: ENSG00000077721
UniProt:: P49459
OMIM:: 312180
Synonyms:: HHR6A, HR6A, RAD6A, UBC2

Cilia effects upon perturbation of UBE2A

Ciliogenesis screen results (3 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.98) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-0.93) PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:: decreased locomotor activity, decreased circulating serum albumin level, increased startle reflex, hyperactivity, decreased grip strength
Mouse ciliopathy phenotype:: female infertility, abnormal reti blood vessel morphology, increased heart weight
Human ciliopathy phenotype:: syndromic X-linked intellectual disability Nascimento type; X-linked intellectual disability, Nascimento type; X-linked non-syndromic intellectual disability

Subcellular localization

cytosol, flagella, nucleus

Function

UBE2A localized to flagella (25613900)

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