Property Summary

NCBI Gene PubMed Count 30
PubMed Score 78.91
PubTator Score 20.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
breast carcinoma 1614 2.56840017185052E-29
juvenile dermatomyositis 1189 5.88025560318847E-10
ovarian cancer 8492 1.67327863779136E-8
sonic hedgehog group medulloblastoma 1482 3.48020330775926E-8
Duchenne muscular dystrophy 602 1.49426082326327E-6
lung adenocarcinoma 2714 1.62831984728667E-6
Breast cancer 3099 2.81001401891766E-6
medulloblastoma, large-cell 6234 4.63428444878045E-6
intraductal papillary-mucinous adenoma (IPMA) 2956 2.14702127916045E-5
Amyotrophic Lateral Sclerosis 432 9.71605665316866E-5
Pick disease 1893 2.75275795680871E-4
osteosarcoma 7933 3.27558797021689E-4
Atopic dermatitis 944 5.20372043896869E-4
lung cancer 4473 6.44546224834018E-4
acute quadriplegic myopathy 1157 0.00188680855589838
fascioscapulohumeral muscular dystrophy 100 0.00233949172414215
psoriasis 6685 0.00247981184701093
Down syndrome 548 0.0029486911043585
glioblastoma 5572 0.00327131166053509
invasive ductal carcinoma 2950 0.0036094466664157
Rheumatoid Arthritis 1171 0.00465444934805144
dermatomyositis 967 0.00767674530560157
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.0111495642129829
ulcerative colitis 2087 0.0130793302563252
Waldenstrons macroglobulinemia 765 0.0151786846747917
primary pancreatic ductal adenocarcinoma 1271 0.0267343109539188
pancreatic cancer 2300 0.0302095295971618
aldosterone-producing adenoma 664 0.0308915704747679
Crohn's disease 304 0.0321852018254758
spina bifida 1064 0.0398657641750647
Disease Target Count
Spastic quadriplegia 10

Expression

Synonym

Accession Q9UEY8 D3DRA8 O43243 Q5VU09 Q92773 Q9UEY7
Symbols ADDL
CPSQ3

Gene

  Ortholog (14)

Gene RIF (21)

PMID Text
25285724 ADD3 gene plays an important role in biliary atresia pathogenesis.
24104524 ADD3 gene may be functionally relevant for the development of biliary atresia
23872602 Common genetic variants in 10q24.2 can alter biliary atresia risk by regulating ADD3 expression levels in the liver, and may exert an effect on disease epidemiology and on the general population.
23836506 Homozygous p.G367D mutation in ADD3 causes spastic diplegic/quadriplegic cerebral palsy and intellectual disability.
23814265 High expression of ADD3 is associated with glioma.
23333304 HIV-1 Vif downregulates the expression of adducin 3 protein gamma (ADD3) in Vif-expression T cells
21164023 gamma-adducin may influence blood pressure homeostasis by modulating renal NaCl transport.
20810786 These findings suggest novel roles for adducins in stabilization of epithelial junctions and regulation of junctional remodeling.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
More...

AA Sequence

MSSDASQGVITTPPPPSMPHKERYFDRINENDPEYIRERNMSPDLRQDFNMMEQRKRVTQILQSPAFRED      1 - 70
LECLIQEQMKKGHNPTGLLALQQIADYIMANSFSGFSSPPLSLGMVTPINDLPGADTSSYVKGEKLTRCK     71 - 140
LASLYRLVDLFGWAHLANTYISVRISKEQDHIIIIPRGLSFSEATASNLVKVNIIGEVVDQGSTNLKIDH    141 - 210
TGFSPHAAIYSTRPDVKCVIHIHTLATAAVSSMKCGILPISQESLLLGDVAYYDYQGSLEEQEERIQLQK    211 - 280
VLGPSCKVLVLRNHGVVALGETLEEAFHYIFNVQLACEIQVQALAGAGGVDNLHVLDFQKYKAFTYTVAA    281 - 350
SGGGGVNMGSHQKWKVGEIEFEGLMRTLDNLGYRTGYAYRHPLIREKPRHKSDVEIPATVTAFSFEDDTV    351 - 420
PLSPLKYMAQRQQREKTRWLNSPNTYMKVNVPEESRNGETSPRTKITWMKAEDSSKVSGGTPIKIEDPNQ    421 - 490
FVPLNTNPNEVLEKRNKIREQNRYDLKTAGPQSQLLAGIVVDKPPSTMQFEDDDHGPPAPPNPFSHLTEG    491 - 560
ELEEYKRTIERKQQGLEDAEQELLSDDASSVSQIQSQTQSPQNVPEKLEENHELFSKSFISMEVPVMVVN    561 - 630
GKDDMHDVEDELAKRVSRLSTSTTIENIEITIKSPEKIEEVLSPEGSPSKSPSKKKKKFRTPSFLKKNKK    631 - 700
KEKVEA                                                                    701 - 706
//

Text Mined References (41)

PMID Year Title
25285724 2014 Association between single nucleotide polymorphisms in the ADD3 gene and susceptibility to biliary atresia.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24104524 2014 Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia.
23872602 2013 Common genetic variants regulating ADD3 gene expression alter biliary atresia risk.
23836506 2013 Mutations in ? adducin are associated with inherited cerebral palsy.
23814265 2013 MiR-145 functions as a tumor-suppressive RNA by targeting Sox9 and adducin 3 in human glioma cells.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21164023 2011 ?-Adducin stimulates the thiazide-sensitive NaCl cotransporter.
More...