Property Summary

NCBI Gene PubMed Count 15
PubMed Score 9.50
PubTator Score 10.48

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.051 0.012
Multiple myeloma 1.620 0.001
ovarian cancer -1.500 0.000

Synonym

Accession Q6DKK2 A8MZ52 B3KP62 B4DN65 Q2M248 Q7L3U8 Q9H6G3 Q9NXB2 TPR repeat protein 19
Symbols MC3DN2
2010204O13Rik

Gene

Gene RIF (6)

PMID Text
25899669 TTC19-deficient mitochondrial complex III deficiency displays substantial phenotypic variation. (Review)
25887401 This study showed that TTC19 deficient patients do show characteristic clinical and neuroimaging features, which may facilitate diagnosis of this yet rare disorder; normal MRC complex III activity does not exclude the diagnosis.
24397319 A TTC19 mutation in spinocerebellar ataxia is identified in an Asian population.
23532514 The mutation resulted in almost complete absence of TTC19 protein, defective assembly of CIII in muscle, and enhanced production of reactive oxygen species in cultured skin fibroblasts.
21278747 TTC19 is a putative cIII assembly factor whose disruption is associated with severe neurological abnormalities in humans and flies.
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MFRLLSWSLGRGFLRAAGRRCRGCSARLLPGLAGGPGPEVQVPPSRVAPHGRGPGLLPLLAALAWFSRPA      1 - 70
AAEEEEQQGADGAAAEDGADEAEAEIIQLLKRAKLSIMKDEPEEAELILHDALRLAYQTDNKKAITYTYD     71 - 140
LMANLAFIRGQLENAEQLFKATMSYLLGGGMKQEDNAIIEISLKLASIYAAQNRQEFAVAGYEFCISTLE    141 - 210
EKIEREKELAEDIMSVEEKANTHLLLGMCLDACARYLLFSKQPSQAQRMYEKALQISEEIQGERHPQTIV    211 - 280
LMSDLATTLDAQGRFDEAYIYMQRASDLARQINHPELHMVLSNLAAVLMHRERYTQAKEIYQEALKQAKL    281 - 350
KKDEISVQHIREELAELSKKSRPLTNSVKL                                            351 - 380
//

Text Mined References (17)

PMID Year Title
25899669 2015 Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.
25887401 2015 Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
25416956 2014 A proteome-scale map of the human interactome network.
24397319 2014 Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.
23532514 2013 Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21278747 2011 Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20208530 2010 PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody.
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