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Tdark Disco-interacting protein 2 homolog B

This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]

 Comments

Property Summary

NCBI Gene PubMed Count 13
PubMed Score 3.75
PubTator Score 3.20

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count Z-score Confidence
Mental Retardation, Fra12a Type 1 0.0 0.0
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.6

Expression

  Differential Expression (9)

Disease log2 FC p
acute quadriplegic myopathy 1.398 3.2e-06
intraductal papillary-mucinous carcinoma... 1.200 1.6e-02
intraductal papillary-mucinous neoplasm ... 1.400 2.5e-02
juvenile dermatomyositis 1.535 3.0e-12
ovarian cancer 1.300 4.1e-03
pancreatic cancer 1.300 7.2e-04
primary pancreatic ductal adenocarcinoma 1.333 1.6e-03
psoriasis -1.100 4.5e-06
subependymal giant cell astrocytoma -1.008 1.9e-02

Synonym

Accession Q9P265 Q6B011 Q8N1L5 Q8NB38 DIP2 homolog B
Symbols

Gene

DIP2B

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (4)

 GO Function (1)

 GO Component (4)

 GO Process (1)

 Compartment GO Term (12)

 IMPC Phenotype (2)

 MGI Phenotype (3)

 GWAS Trait (8)

 HCA RNA Cell Line (56)

See all...

Gene RIF (2)

AA Sequence 

MAERGLEPSPAAVAALPPEVRAQLAELELELSEGDITQKGYEKKRSKLLSPYSPQTQETDSAVQKELRNQ      1 - 70
TPAPSAAQTSAPSKYHRTRSGGARDERYRSDIHTEAVQAALAKHKEQKMALPMPTKRRSTFVQSPADACT     71 - 140
PPDTSSASEDEGSLRRQAALSAALQQSLQNAESWINRSIQGSSTSSSASSTLSHGEVKGTSGSLADVFAN    141 - 210
TRIENFSAPPDVTTTTSSSSSSSSIRPANIDLPPSGIVKGMHKGSNRSSLMDTADGVPVSSRVSTKIQQL    211 - 280
LNTLKRPKRPPLKEFFVDDSEEIVEVPQPDPNQPKPEGRQMTPVKGEPLGVICNWPPALESALQRWGTTQ    281 - 350
AKCSCLTALDMTGKPVYTLTYGKLWSRSLKLAYTLLNKLGTKNEPVLKPGDRVALVYPNNDPVMFMVAFY    351 - 420
GCLLAEVIPVPIEVPLTRKDAGGQQIGFLLGSCGIALALTSEVCLKGLPKTQNGEIVQFKGWPRLKWVVT    421 - 490
DSKYLSKPPKDWQPHISPAGTEPAYIEYKTSKEGSVMGVTVSRLAMLSHCQALSQACNYSEGETIVNVLD    491 - 560
FKKDAGLWHGMFANVMNKMHTISVPYSVMKTCPLSWVQRVHAHKAKVALVKCRDLHWAMMAHRDQRDVSL    561 - 630
SSLRMLIVTDGANPWSVSSCDAFLSLFQSHGLKPEAICPCATSAEAMTVAIRRPGVPGAPLPGRAILSMN    631 - 700
GLSYGVIRVNTEDKNSALTVQDVGHVMPGGMMCIVKPDGPPQLCKTDEIGEICVSSRTGGMMYFGLAGVT    701 - 770
KNTFEVIPVNSAGSPVGDVPFIRSGLLGFVGPGSLVFVVGKMDGLLMVSGRRHNADDIVATGLAVESIKT    771 - 840
VYRGRIAVFSVSVFYDERIVVVAEQRPDASEEDSFQWMSRVLQAIDSIHQVGVYCLALVPANTLPKTPLG    841 - 910
GIHISQTKQLFLEGSLHPCNILMCPHTCVTNLPKPRQKQPGVGPASVMVGNLVAGKRIAQAAGRDLGQIE    911 - 980
ENDLVRKHQFLAEILQWRAQATPDHVLFMLLNAKGTTVCTASCLQLHKRAERIASVLGDKGHLNAGDNVV    981 - 1050
LLYPPGIELIAAFYGCLYAGCIPVTVRPPHAQNLTATLPTVRMIVDVSKAACILTSQTLMRLLRSREAAA   1051 - 1120
AVDVKTWPTIIDTDDLPRKRLPQLYKPPTPEMLAYLDFSVSTTGMLTGVKMSHSAVNALCRAIKLQCELY   1121 - 1190
SSRQIAICLDPYCGLGFALWCLCSVYSGHQSVLIPPMELENNLFLWLSTVNQYKIRDTFCSYSVMELCTK   1191 - 1260
GLGNQVEVLKTRGINLSCVRTCVVVAEERPRVALQQSFSKLFKDIGLSPRAVSTTFGSRVNVAICLQGTS   1261 - 1330
GPDPTTVYVDLKSLRHDRVRLVERGAPQSLLLSESGKILPGVKVVIVNPETKGPVGDSHLGEIWVNSPHT   1331 - 1400
ASGYYTIYDSETLQADHFNTRLSFGDAAQTLWARTGYLGFVRRTELTAATGERHDALYVVGALDETLELR   1401 - 1470
GLRYHPIDIETSVSRIHRSIAECAVFTWTNLLVVVVELCGSEQEALDLVPLVTNVVLEEHYLIVGVVVVV   1471 - 1540
DPGVIPINSRGEKQRMHLRDSFLADQLDPIYVAYNM                                     1541 - 1576
//

Text Mined References (21)

PMID Year Title