Property Summary

NCBI Gene PubMed Count 4
Grant Count 10
R01 Count 7
Funding $947,572.75
PubMed Score 14.09
PubTator Score 4.21

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (2)

Gene RIF (2)

PMID Text
22779713 One sequence alteration, heterozygous c.114C->T (conservative change without alteration of amino acid) in exon 1 of HMX3, was detected in 2 of 15 patients with superior semicircular dehiscence syndrome.
19253379 propose that hemizygous deletions of HMX2 and HMX3 are responsible for inner ear malformations, vestibular dysfunction, and congenital sensorineural hearing loss

AA Sequence

MPEPGPDAAGTASAQPQPPPPPPPAPKESPFSIKNLLNGDHHRPPPKPQPPPRTLFAPASAAAAAAAAAA      1 - 70
AAAKGALEGAAGFALSQVGDLAFPRFEIPAQRFALPAHYLERSPAWWYPYTLTPAGGHLPRPEASEKALL     71 - 140
RDSSPASGTDRDSPEPLLKADPDHKELDSKSPDEIILEESDSEESKKEGEAAPGAAGASVGAAAATPGAE    141 - 210
DWKKGAESPEKKPACRKKKTRTVFSRSQVFQLESTFDMKRYLSSSERAGLAASLHLTETQVKIWFQNRRN    211 - 280
KWKRQLAAELEAANLSHAAAQRIVRVPILYHENSAAEGAAAAAAGAPVPVSQPLLTFPHPVYYSHPVVSS    281 - 350
VPLLRPV                                                                   351 - 357
//

Text Mined References (5)

PMID Year Title
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22779713 2012 Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome.
19253379 2009 Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.