22q11.2 copy number variation syndrome (Homo sapiens)

From WikiPathways

Revision as of 12:57, 4 July 2019 by Victoravr (Talk | contribs)
Jump to: navigation, search
92918354025miRnaGene ProductMetaboliteData node for a gene or its productMIM-inhibition of a compound's function or a processData node for a micro RNAMIM-conversion of a compound to anotherreward-mediating mesocorticolimbicpathwaysData node for a metaboliteDashed line indicates unclear mechanismof interaction/unclear intermediatesMIM-stimulation of an enzyme or a gene leading to its activation or expressionSynaptic transmissionat thalamocortical glutamatergic projectionsPathwayMIM-catalysis of a compound by an enzymeMIM-binding of a compound to anotherMIM-transcription-translation of a geneMIM-gap of knowledge on the exact nature of the interactionCompoundData node for a pathwayHeart developmentVWFDopamine metabolismInsulin SignallingGP9Blood Clotting CascadeNeurotransmitter clearanceDRD2GP1BBGP1BAhsa-miR-9-5pTranslocation of SLC2A4 to the plasma membrane GP5371336161063610151722426372071131383032733021, 2319, 212, 3, 3311111138PPLCR22BLCR22ALCR22CCentromeredegradation of ubiquitinfusion proteinsnucleosome assemblyduring sperm nucleus decondensationApoptosisthrough caspase activationNeurite outgrowthin neural precursorcellsmitochondrial redoxhomeostasis MitochondrionDNA unwinding during replication elongation cell cycle-dependenthistone genetranscriptionMesenchymevesicle fusion at the endoplasmic reticulum or Golgi membranesAsymmetric remodelling of PAASecond heart fieldAxonal Growth(Premature) differentiation of SHF cellsNeuronal inhibitionIncreased RA signallingintracellular signalingSERPIND1GLUD1CCDC188hsa-mir-4761ARVCFRAF1MED15ALDH4A1KLHL22LZTR1UFD12-oxoglutaric acidTHAP7SLC7A4DGCR6LcitrateL-Glutamic gamma-semialdehydeLRRC74BOATTSSK2HIC2RAF1hsa-mir-1286HIRIP3prolineHAND2SHOC2RTN4RCDC45SLC2A4SEPT5RAS/MAPK signal transductionTANGO2DGCR2DGCR6hsa-miR-3618LINC00896Urea cycleGSC2C22orf3914CLDN5GNB1LOrnithineAIFM3TXNRD2RANBP1glutamineRTL10ZNF74LOC101927859PPP1CBP2RX6ESS2glutamateCBX5TCA cycleTRMT2API4KAASF1AMRPL4015hsa-mir-6816USP41riluzoleCLTCL1HIRAhsa-mir-1306PAX3TSKShsa-mir-649FGF10SLC25A124CRKL1-pyrroline-5-carboxylateSCARF2retinalEMC10NormetanephrineHomovanillic acidRetinoic acidSRFDROSHAFOXA2hsa-miR-194-1PRODHFGF8CYP26B14-oxo-Retinoic acidCOMTCHRDFOXC1CRKLSHHNorepinephrineCYP26A1DopaminePITX2ZDHHC8FGF8FGFR2DGCR8DL-MetanephrineEpinephrineTBX1hsa-miR-185CYP26C1FOXC2Retinoic acidFGFR14-hydroxyretinoic acidhsa-miR-363NKX2-5hsa-miR-150ALDH1A2DOPAC3-MethoxytyramineSNAP29FGFR2FGFR1PCDC4227DGCR812hsa-miR-18534EctodermcNCC patterningNeurogenesis and neural differentiationHES1HES1GBX2Notch signalling(Premature) muscular differentiation GP1BB398LCR22D34PRAF1PcitrateTCA cycleGP1b-IX-V activation signalling25, 2825, 28ACTA2ACTC1Dopamine


Description

The 22q11.2 deletion syndrome can result in the loss of up to 46 protein-coding genes, which have wide-spread effects on human development. The loss of TBX1 is thought to be responsible for a large proportion of the 22q11.2DS phenotype, due its role in the development of the heart, thymus, thyroid, parathyroids and more.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Aggarwal VS, Liao J, Bondarev A, Schimmang T, Lewandoski M, Locker J, Shanske A, Campione M, Morrow BE; ''Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.''; Hum Mol Genet, 2006 PubMed Europe PMC Scholia
  2. Chen CY, Schwartz RJ; ''Recruitment of the tinman homolog Nkx-2.5 by serum response factor activates cardiac alpha-actin gene transcription.''; Mol Cell Biol, 1996 PubMed Europe PMC Scholia
  3. Moon AM, Guris DL, Seo JH, Li L, Hammond J, Talbot A, Imamoto A; ''Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes.''; Dev Cell, 2006 PubMed Europe PMC Scholia
  4. Choi M, Klingensmith J; ''Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.''; PLoS Genet, 2009 PubMed Europe PMC Scholia
  5. Gottlieb S, Hanes SD, Golden JA, Oakey RJ, Budarf ML; ''Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain.''; Hum Mol Genet, 1998 PubMed Europe PMC Scholia
  6. Lorain S, Quivy JP, Monier-Gavelle F, Scamps C, Lécluse Y, Almouzni G, Lipinski M; ''Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA.''; Mol Cell Biol, 1998 PubMed Europe PMC Scholia
  7. Neville MJ, Johnstone EC, Walton RT; ''Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1.''; Hum Mutat, 2004 PubMed Europe PMC Scholia
  8. Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D; ''A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects.''; Science, 1999 PubMed Europe PMC Scholia
  9. Bedeschi MF, Colombo L, Mari F, Hofmann K, Rauch A, Gentilin B, Renieri A, Clerici D; ''Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome.''; Mol Syndromol, 2010 PubMed Europe PMC Scholia
  10. Zhang R, Poustovoitov MV, Ye X, Santos HA, Chen W, Daganzo SM, Erzberger JP, Serebriiskii IG, Canutescu AA, Dunbrack RL, Pehrson JR, Berger JM, Kaufman PD, Adams PD; ''Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA.''; Dev Cell, 2005 PubMed Europe PMC Scholia
  11. Liu N, Olson EN; ''Coactivator control of cardiovascular growth and remodeling.''; Curr Opin Cell Biol, 2006 PubMed Europe PMC Scholia
  12. Weitz SH, Gong M, Barr I, Weiss S, Guo F; ''Processing of microRNA primary transcripts requires heme in mammalian cells.''; Proc Natl Acad Sci U S A, 2014 PubMed Europe PMC Scholia
  13. Chen L, Fulcoli FG, Tang S, Baldini A; ''Tbx1 regulates proliferation and differentiation of multipotent heart progenitors.''; Circ Res, 2009 PubMed Europe PMC Scholia
  14. Ivins S, Lammerts van Beuren K, Roberts C, James C, Lindsay E, Baldini A, Ataliotis P, Scambler PJ; ''Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1.''; Dev Biol, 2005 PubMed Europe PMC Scholia
  15. Chen CY, Schwartz RJ; ''Recruitment of the tinman homolog Nkx-2.5 by serum response factor activates cardiac alpha-actin gene transcription.''; Mol Cell Biol, 1996 PubMed Europe PMC Scholia
  16. Vassilopoulos S, Esk C, Hoshino S, Funke BH, Chen CY, Plocik AM, Wright WE, Kucherlapati R, Brodsky FM; ''A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolism.''; Science, 2009 PubMed Europe PMC Scholia
  17. Xie Q, Lin T, Zhang Y, Zheng J, Bonanno JA; ''Molecular cloning and characterization of a human AIF-like gene with ability to induce apoptosis.''; J Biol Chem, 2005 PubMed Europe PMC Scholia
  18. Chun S, Westmoreland JJ, Bayazitov IT, Eddins D, Pani AK, Smeyne RJ, Yu J, Blundon JA, Zakharenko SS; ''Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models.''; Science, 2014 PubMed Europe PMC Scholia
  19. Roberts C, Ivins SM, James CT, Scambler PJ; ''Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.''; Dev Dyn, 2005 PubMed Europe PMC Scholia
  20. Nowotschin S, Liao J, Gage PJ, Epstein JA, Campione M, Morrow BE; ''Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field.''; Development, 2006 PubMed Europe PMC Scholia
  21. Hao Z, Jha KN, Kim YH, Vemuganti S, Westbrook VA, Chertihin O, Markgraf K, Flickinger CJ, Coppola M, Herr JC, Visconti PE; ''Expression analysis of the human testis-specific serine/threonine kinase (TSSK) homologues. A TSSK member is present in the equatorial segment of human sperm.''; Mol Hum Reprod, 2004 PubMed Europe PMC Scholia
  22. Umeki I, Niihori T, Abe T, Kanno SI, Okamoto N, Mizuno S, Kurosawa K, Nagasaki K, Yoshida M, Ohashi H, Inoue SI, Matsubara Y, Fujiwara I, Kure S, Aoki Y; ''Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.''; Hum Genet, 2019 PubMed Europe PMC Scholia
  23. Shi S, Leites C, He D, Schwartz D, Moy W, Shi J, Duan J; ''MicroRNA-9 and microRNA-326 regulate human dopamine D2 receptor expression, and the microRNA-mediated expression regulation is altered by a genetic variant.''; J Biol Chem, 2014 PubMed Europe PMC Scholia
  24. Magnaghi P, Roberts C, Lorain S, Lipinski M, Scambler PJ; ''HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.''; Nat Genet, 1998 PubMed Europe PMC Scholia
  25. Stark KL, Xu B, Bagchi A, Lai WS, Liu H, Hsu R, Wan X, Pavlidis P, Mills AA, Karayiorgou M, Gogos JA; ''Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.''; Nat Genet, 2008 PubMed Europe PMC Scholia
  26. Vitelli F, Taddei I, Morishima M, Meyers EN, Lindsay EA, Baldini A; ''A genetic link between Tbx1 and fibroblast growth factor signaling.''; Development, 2002 PubMed Europe PMC Scholia
  27. Yamagishi H, Maeda J, Hu T, McAnally J, Conway SJ, Kume T, Meyers EN, Yamagishi C, Srivastava D; ''Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer.''; Genes Dev, 2003 PubMed Europe PMC Scholia
  28. Sellier C, Hwang VJ, Dandekar R, Durbin-Johnson B, Charlet-Berguerand N, Ander BP, Sharp FR, Angkustsiri K, Simon TJ, Tassone F; ''Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.''; PLoS One, 2014 PubMed Europe PMC Scholia
  29. Rosa RF, Rosa RC, Dos Santos PP, Zen PR, Paskulin GA; ''Hematological abnormalities and 22q11.2 deletion syndrome.''; Rev Bras Hematol Hemoter, 2011 PubMed Europe PMC Scholia
  30. McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA; ''Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.''; J Med Genet, 2013 PubMed Europe PMC Scholia
  31. Byrd NA, Meyers EN; ''Loss of Gbx2 results in neural crest cell patterning and pharyngeal arch artery defects in the mouse embryo.''; Dev Biol, 2005 PubMed Europe PMC Scholia
  32. Loppin B, Bonnefoy E, Anselme C, Laurençon A, Karr TL, Couble P; ''The histone H3.3 chaperone HIRA is essential for chromatin assembly in the male pronucleus.''; Nature, 2005 PubMed Europe PMC Scholia
  33. Nahorski MS, Al-Gazali L, Hertecant J, Owen DJ, Borner GH, Chen YC, Benn CL, Carvalho OP, Shaikh SS, Phelan A, Robinson MS, Royle SJ, Woods CG; ''A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.''; Brain, 2015 PubMed Europe PMC Scholia
  34. Funke B, Puech A, Saint-Jore B, Pandita R, Skoultchi A, Morrow B; ''Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11.''; Genomics, 1998 PubMed Europe PMC Scholia
  35. Pacek M, Tutter AV, Kubota Y, Takisawa H, Walter JC; ''Localization of MCM2-7, Cdc45, and GINS to the site of DNA unwinding during eukaryotic DNA replication.''; Mol Cell, 2006 PubMed Europe PMC Scholia
  36. van Bueren KL, Papangeli I, Rochais F, Pearce K, Roberts C, Calmont A, Szumska D, Kelly RG, Bhattacharya S, Scambler PJ; ''Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.''; Dev Biol, 2010 PubMed Europe PMC Scholia
  37. Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G, Nicolis S, Silani V, Marino B, Scarlato G, Ottolenghi S, Dallapiccola B; ''UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.''; Hum Mol Genet, 1997 PubMed Europe PMC Scholia
  38. de la Morena MT, Eitson JL, Dozmorov IM, Belkaya S, Hoover AR, Anguiano E, Pascual MV, van Oers NSC; ''Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome.''; Clin Immunol, 2013 PubMed Europe PMC Scholia
  39. Xu H, Morishima M, Wylie JN, Schwartz RJ, Bruneau BG, Lindsay EA, Baldini A; ''Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract.''; Development, 2004 PubMed Europe PMC Scholia
  40. Gong X, Du X, Xu Y, Zheng W; ''LINC00037 Inhibits Proliferation of Renal Cell Carcinoma Cells in an Epidermal Growth Factor Receptor-Dependent Way.''; Cell Physiol Biochem, 2018 PubMed Europe PMC Scholia
  41. Xu B, Hsu PK, Stark KL, Karayiorgou M, Gogos JA; ''Derepression of a neuronal inhibitor due to miRNA dysregulation in a schizophrenia-related microdeletion.''; Cell, 2013 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
112047view14:35, 17 September 2020FehrhartModified title
111568view12:43, 25 August 2020Fehrhartupdate in progress
111567view11:56, 25 August 2020Fehrhartupdate in progress
111564view11:16, 25 August 2020Fehrhartupdate in progress
111262view16:20, 27 July 2020FehrhartUndergoing reconstruction and completion of deleted gene list
109347view12:55, 16 March 2020L DupuisConnected unconnected line
109316view10:45, 11 March 2020FehrhartAdded DGCR5 path, aligned genes with red line.
107179view14:26, 17 September 2019MaintBotChEBI identifier normalization
106807view13:28, 17 September 2019MaintBotHMDB identifier normalization
105133view06:22, 10 July 2019Fehrhartfixed unconnected lines and SHH part of pathway
105073view17:20, 4 July 2019Victoravrfixed interactions
105072view12:57, 4 July 2019VictoravrAdded CLTC1 pathways
105049view21:44, 2 July 2019Victoravr2 added pathways for COMT
105048view20:54, 2 July 2019VictoravrAdded legend and fixed interactions
105027view16:42, 30 June 2019VictoravrDGCR8 mediated DRD2 upregulation added
105025view10:40, 29 June 2019EgonwReplaced secondary ChEBI identifiers with a primary identifiers.
104987view21:55, 27 June 2019Victoravradded pathway
104984view19:56, 27 June 2019VictoravrAdded downstream genes
104957view12:03, 27 June 2019VictoravrGP1BB downstream added
104955view10:21, 27 June 2019VictoravrAdding of gene functional descriptions
104952view07:25, 27 June 2019Fehrhartwork in progress
104941view11:53, 26 June 2019VictoravrOntology Term : 'neurological disorder pathway' added !
104940view11:50, 26 June 2019VictoravrOntology Term : 'disease pathway' added !
104939view11:50, 26 June 2019VictoravrOntology Term : 'velocardiofacial syndrome' added !
104938view11:35, 26 June 2019FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
1-pyrroline-5-carboxylateMetaboliteCHEBI:15893 (ChEBI)
2-oxoglutaric acidMetaboliteCHEBI:30915 (ChEBI)
3-MethoxytyramineMetaboliteCHEBI:1582 (ChEBI)
4-hydroxyretinoic acidMetaboliteCHEBI:63795 (ChEBI)
4-oxo-Retinoic acidMetaboliteHMDB06285 (HMDB)
ACTA2GeneProductENSG00000107796 (Ensembl)
ACTC1GeneProductENSG00000159251 (Ensembl)
AIFM3GeneProductENSG00000183773 (Ensembl)
ALDH1A2GeneProductENSG00000128918 (Ensembl)
ALDH4A1GeneProductENSG00000159423 (Ensembl)
ARVCFGeneProductENSG00000099889 (Ensembl)
ASF1AGeneProductENSG00000111875 (Ensembl)
Blood Clotting CascadePathwayWP272 (WikiPathways)
C22orf39GeneProductENSG00000242259 (Ensembl)
CBX5GeneProductENSG00000094916 (Ensembl)
CCDC188GeneProductENSG00000234409 (Ensembl)
CDC42GeneProductENSG00000070831 (Ensembl) ONLY isoform 2, which is brain-specific; CDC42PALM
CDC45GeneProductENSG00000093009 (Ensembl)
CHRDGeneProductENSG00000090539 (Ensembl)
CLDN5GeneProductENSG00000184113 (Ensembl)
CLTCL1GeneProductENSG00000070371 (Ensembl)
COMTGeneProductENSG00000093010 (Ensembl)
CRKLGeneProductENSG00000099942 (Ensembl)
CYP26A1GeneProductENSG00000095596 (Ensembl)
CYP26B1GeneProductENSG00000003137 (Ensembl)
CYP26C1GeneProductENSG00000187553 (Ensembl)
DGCR2GeneProductENSG00000070413 (Ensembl)
DGCR6GeneProductENSG00000183628 (Ensembl)
DGCR6LGeneProductENSG00000128185 (Ensembl)
DGCR8GeneProductENSG00000128191 (Ensembl)
DL-MetanephrineMetaboliteCHEBI:89633 (ChEBI)
DOPACMetaboliteCHEBI:41941 (ChEBI)
DRD2GeneProductENSG00000149295 (Ensembl)
DROSHAGeneProductENSG00000113360 (Ensembl)
Dopamine metabolismPathwayWP2436 (WikiPathways)
DopamineMetaboliteCHEBI:18243 (ChEBI)
EMC10GeneProductENSG00000161671 (Ensembl)
ESS2GeneProductENSG00000100056 (Ensembl)
EpinephrineMetabolite33568 (ChEBI)
FGF10GeneProductENSG00000070193 (Ensembl)
FGF8GeneProductENSG00000107831 (Ensembl)
FGFR1GeneProductENSG00000077782 (Ensembl)
FGFR2GeneProductENSG00000066468 (Ensembl)
FOXA2GeneProductENSG00000125798 (Ensembl)
FOXC1GeneProductENSG00000054598 (Ensembl)
FOXC2GeneProductENSG00000176692 (Ensembl)
GBX2GeneProductENSG00000168505 (Ensembl)
GLUD1GeneProductENSG00000148672 (Ensembl)
GNB1LGeneProductENSG00000185838 (Ensembl)
GP1BAGeneProductENSG00000185245 (Ensembl)
GP1BBGeneProductENSG00000203618 (Ensembl)
  • Involved in Macrothrombocytopenia development
  • Responsible for Bernard-Soulier syndrome
GP1b-IX-V activation signallingPathwayWP1823 (WikiPathways)
GP5GeneProductENSG00000178732 (Ensembl)
GP9GeneProductENSG00000169704 (Ensembl)
GSC2GeneProductENSG00000063515 (Ensembl) DNA sequence-specific recognition of sites bound by the Drosophila anterior morphogen, Bicoid
HAND2GeneProductENSG00000164107 (Ensembl)
HES1GeneProductENSG00000114315 (Ensembl)
HIC2GeneProductENSG00000169635 (Ensembl)
HIRAGeneProductENSG00000100084 (Ensembl)
HIRIP3GeneProductENSG00000149929 (Ensembl)
Heart developmentPathwayWP1591 (WikiPathways)
Homovanillic acidMetaboliteCHEBI:545959 (ChEBI)
Insulin SignallingPathwayWP481 (WikiPathways)
KLHL22GeneProductENSG00000099910 (Ensembl)
L-Glutamic gamma-semialdehydeMetaboliteHMDB02104 (HMDB)
LINC00896GeneProductENSG00000236499 (Ensembl)
LOC101927859GeneProduct
  • serine/arginine repetitive matrix protein 2-like
  • No annotation
LRRC74BGeneProductENSG00000187905 (Ensembl)
LZTR1GeneProductENSG00000099949 (Ensembl)
MED15GeneProductENSG00000099917 (Ensembl)
MRPL40GeneProductENSG00000185608 (Ensembl)
NKX2-5GeneProductENSG00000183072 (Ensembl)
Neurotransmitter clearancePathwayWP1870 (WikiPathways)
NorepinephrineMetaboliteCHEBI:18357 (ChEBI)
NormetanephrineMetabolite89951 (ChEBI)
Notch signallingPathway268 (WikiPathways)
OATGeneProductENSG00000065154 (Ensembl)
OrnithineMetaboliteCHEBI:16176 (ChEBI)
P2RX6GeneProductENSG00000099957 (Ensembl)
PAX3GeneProductENSG00000135903 (Ensembl)
PI4KAGeneProductENSG00000241973 (Ensembl)
PITX2GeneProductENSG00000164093 (Ensembl)
PPP1CBGeneProductENSG00000213639 (Ensembl)
PRODHGeneProductENSG00000100033 (Ensembl)
RAF1GeneProductENSG00000132155 (Ensembl)
RANBP1GeneProductENSG00000099901 (Ensembl)
RAS/MAPK signal transductionPathwayWP2735 (WikiPathways)
RTL10GeneProductENSG00000215012 (Ensembl)
RTN4RGeneProductENSG00000040608 (Ensembl)
Retinoic acidMetaboliteCHEBI:6067 (ChEBI)
SCARF2GeneProductENSG00000244486 (Ensembl)
SEPT5GeneProductENSG00000184702 (Ensembl)
SERPIND1GeneProductENSG00000099937 (Ensembl)
SHHGeneProductENSG00000164690 (Ensembl)
SHOC2GeneProductENSG00000108061 (Ensembl)
SLC25A1GeneProductENSG00000100075 (Ensembl)
  • Altered mitochondrial metabolism
  • Causative gene for Combined D-2- and L-2-hydroxyglutaric aciduria
SLC2A4GeneProductENSG00000181856 (Ensembl)
SLC7A4GeneProductENSG00000099960 (Ensembl)
SNAP29GeneProductENSG00000099940 (Ensembl)
SRFGeneProductENSG00000112658 (Ensembl)
TANGO2GeneProductENSG00000183597 (Ensembl)
TBX1GeneProductENSG00000184058 (Ensembl)
TCA cyclePathwayWP78 (WikiPathways)
THAP7GeneProductENSG00000184436 (Ensembl)
TRMT2AGeneProductENSG00000099899 (Ensembl)
TSKSGeneProductENSG00000126467 (Ensembl)
TSSK2GeneProductENSG00000206203 (Ensembl)
TXNRD2GeneProductENSG00000184470 (Ensembl)
Translocation of SLC2A4 to the plasma membrane PathwayWP2777 (WikiPathways)
UFD1GeneProductENSG00000070010 (Ensembl)
USP41GeneProductENSG00000161133 (Ensembl)
Urea cyclePathwayWP497 (WikiPathways)
VWFGeneProductENSG00000110799 (Ensembl) Type your comment heref
ZDHHC8GeneProductENSG00000099904 (Ensembl)
ZNF74GeneProductENSG00000185252 (Ensembl)
citrateMetaboliteCHEBI:133748 (ChEBI) Cytplasm citrate
glutamateMetaboliteCHEBI:14321 (ChEBI)
glutamineMetaboliteCHEBI:28300 (ChEBI)
hsa-miR-150RnaMIMAT0000451 (miRBase mature sequence)
hsa-miR-185RnaMIMAT0000455 (miRBase mature sequence)
hsa-miR-194-1RnaMIMAT0000460 (miRBase mature sequence)
hsa-miR-3618RnaMIMAT0017998 (miRBase mature sequence)
hsa-miR-363RnaMIMAT0000707 (miRBase mature sequence)
hsa-miR-9-5pRnaMIRT437986 (miRBase mature sequence) NEEDS VERIFICATION! assumption based on study finding dgcr8 deletion increases drd2 expression which is only a target to hsa-miR-9 according to mirtarbase
hsa-mir-1286RnaMIMAT0005877 (miRBase mature sequence)
hsa-mir-1306RnaMI0006443 (miRBase Sequence)
hsa-mir-4761RnaMI0017402 (miRBase Sequence)
hsa-mir-649RnaMIMAT0003319 (miRBase mature sequence)
hsa-mir-6816RnaMI0022661 (miRBase Sequence)
prolineMetaboliteCHEBI:26271 (ChEBI)
retinalMetaboliteCHEBI:15035 (ChEBI)
riluzoleMetaboliteCHEBI:8863 (ChEBI)

Annotated Interactions

No annotated interactions

Personal tools