Property Summary

NCBI Gene PubMed Count 13
Grant Count 1
Funding $77,072.6
PubMed Score 4.37
PubTator Score 2.67

Knowledge Summary

Patent (161)

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.378 0.000
ovarian cancer 1.600 0.000

Synonym

Accession Q9H5K3 POMK
Symbols SGK196
MDDGA12
MDDGC12

Gene

 Grant Application (1)

 Collection (1)

Gene RIF (3)

PMID Text
24925318 POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
24556084 Homozygous truncating mutations in POMK lead to congenital muscular dystrophies with secondary merosin deficiency, hypomyelination and intellectual disability.
23929950 These findings suggest how mutations in GTDC2, B3GALNT2, and SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy.

AA Sequence

MEKQPQNSRRGLAPREVPPAVGLLLIMALMNTLLYLCLDHFFIAPRQSTVDPTHCPYGHFRIGQMKNCSP      1 - 70
WLSCEELRTEVRQLKRVGEGAVKRVFLSEWKEHKVALSQLTSLEMKDDFLHGLQMLKSLQGTHVVTLLGY     71 - 140
CEDDNTMLTEYHPLGSLSNLEETLNLSKYQNVNTWQHRLELAMDYVSIINYLHHSPVGTRVMCDSNDLPK    141 - 210
TLSQYLLTSNFSILANDLDALPLVNHSSGMLVKCGHRELHGDFVAPEQLWPYGEDVPFHDDLMPSYDEKI    211 - 280
DIWKIPDISSFLLGHIEGSDMVRFHLFDIHKACKSQTPSERPTAQDVLETYQKVLDTLRDAMMSQAREML    281 - 350
//

Text Mined References (16)

PMID Year Title
24925318 2014 POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
24556084 2014 POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
23929950 2013 SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.
23519211 2013 Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21746835 2012 Congenital hydrocephalus in genetically engineered mice.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
16879967 2006 Emerging roles of pseudokinases.
16421571 2006 DNA sequence and analysis of human chromosome 8.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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