Property Summary

NCBI Gene PubMed Count 11
PubMed Score 7.35
PubTator Score 6.64

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
Congenital heart disease 63 3.009 1.5

Expression

Gene RIF (2)

PMID Text
23574532 study identified two novel heterozygous missense mutations in HOMEZ gene exon-2 in isolated VSD patients in the Chinese population and have found that these two mutations resulted in alteration of the hydropathicity of the HOMEZ protein
20422016 no single gene of major effect could be convincingly identified in a sample of Indian CHD cases born to consanguineous parents. The possibility that noncoding regions of HOMEZ may harbor recessive mutations leading to CHD could not be excluded.

AA Sequence

MVRGWEPPPGLDCAISEGHKSEGTMPPNKEASGLSSSPAGLICLPPISEELQLVWTQAAQTSELDSNEHL      1 - 70
LKTFSYFPYPSLADIALLCLRYGLQMEKVKTWFMAQRLRCGISWSSEEIEETRARVVYRRDQLHFKSLLS     71 - 140
FTHHAGRPPEEVPPPPVPAPEQVGIGIGPPTLSKPTQTKGLKVEPEEPSQMPPLPQSHQKLKESLMTPGS    141 - 210
GAFPYQSDFWQHLQSSGLSKEQAGRGPNQSHGIGTASWNHSTTVPQPQARDKPPPIALIASSCKEESASS    211 - 280
VTPSSSSTSSSFQVLANGATAASKPLQPLGCVPQSVSPSEQALPPHLEPAWPQGLRHNSVPGRVGPTEYL    281 - 350
SPDMQRQRKTKRKTKEQLAILKSFFLQCQWARREDYQKLEQITGLPRPEIIQWFGDTRYALKHGQLKWFR    351 - 420
DNAVPGAPSFQDPAIPTPPPSTRSLNERAETPPLPIPPPPPDIQPLERYWAAHQQLRETDIPQLSQASRL    421 - 490
STQQVLDWFDSRLPQPAEVVVCLDEEEEEEEEELPEDDEEEEEEEEEDDDDDDDDVIIQD              491 - 550
//

Text Mined References (16)

PMID Year Title
25772364 2015 SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage.
25416956 2014 A proteome-scale map of the human interactome network.
23574532 2013 Identification of two novel mutations of the HOMEZ gene in Chinese patients with isolated ventricular septal defect.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
20422016 2010 Consanguinity mapping of congenital heart disease in a South Indian population.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
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