Property Summary

NCBI Gene PubMed Count 19
PubMed Score 12.82
PubTator Score 14.69

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count
Adams Oliver syndrome 6
Disease Target Count P-value
non-small cell lung cancer 2798 2.46380390991162E-27
lung carcinoma 2844 2.65014826049602E-25
lung adenocarcinoma 2714 3.60134846110526E-18
astrocytoma 1493 5.66941969031996E-17
pilocytic astrocytoma 3086 5.67903486985353E-8
group 4 medulloblastoma 1875 3.09070808875077E-6
tuberculosis and treatment for 6 months 686 2.69472715418487E-4
medulloblastoma, large-cell 6234 0.00156339909615869
Pick disease 1893 0.00290013838641484
oligodendroglioma 2849 0.00332379608629857
invasive ductal carcinoma 2950 0.00563511926563223
Alzheimer's disease 644 0.0225616526676618
spina bifida 1064 0.0229762539499966
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Celiac disease 112 0.0 2.0
Disease Target Count Z-score Confidence
Adams-Oliver syndrome 13 6.659 3.3
Disease Target Count
Adams-Oliver Syndrome 1 6

Expression

  Differential Expression (13)

Disease log2 FC p
oligodendroglioma 1.200 0.003
astrocytoma 1.100 0.000
medulloblastoma, large-cell -1.100 0.002
tuberculosis and treatment for 6 months -1.500 0.000
non-small cell lung cancer -1.958 0.000
lung adenocarcinoma -1.900 0.000
group 4 medulloblastoma -1.500 0.000
pilocytic astrocytoma 1.400 0.000
lung carcinoma -2.600 0.000
spina bifida 1.105 0.023
Alzheimer's disease 1.200 0.023
Pick disease 1.200 0.003
invasive ductal carcinoma -1.100 0.006

Synonym

Accession Q2M1Z3 Q9ULL6
Symbols AOS1
CDGAP

Gene

  Ortholog (7)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA Inparanoid
Rat OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid

Gene RIF (9)

PMID Text
24668619 a four-generation pedigree with isolated terminal limb defects and a truncating mutation in ARHGAP31 underscores the relevance of sequencing ARHGAP31 in cases of isolated limb defects, irrespective of presence of a complete Adams-Oliver syndrome phenotype
24632816 The focal adhesion-localized CdGAP regulates matrix rigidity sensing and durotaxis.
22907917 Data demonstrate that cdGAP negatively regulates directed and random migration by controlling adhesion maturation and dynamics through the regulation of both adhesion assembly and disassembly.
22518840 specific interaction between negatively charged phospholipid PI(3,4,5)P3 and the stretch of polybasic residues preceding the RhoGAP domain regulates CdGAP activity in vivo and is required for its cellular functions.
21774070 Rho GTPase activating protein 31
21565291 Our findings demonstrate that heterozygous gain-of-function mutations in ARHGAP31 cause an autosomal-dominant form of ACC-TTLD through introduction of premature termination codons in the terminal exon of the gene.
19706030 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17158447 CdGAP is a novel glycogen synthase kinase 3alpha (GSK-3alpha) substrate.
16519628 Results suggest that CdGAP may play an unexpected role in apoptosis.

AA Sequence

MKNKGAKQKLKRKGAASAFGCDLTEYLESSGQDVPYVLKSCAEFIETHGIVDGIYRLSGVTSNIQRLRQE      1 - 70
FGSDQCPDLTREVYLQDIHCVGSLCKLYFRELPNPLLTYELYEKFTEAVSHCPEEGQLARIQNVIQELPP     71 - 140
SHYRTLEYLIRHLAHIASFSSKTNMHARNLALVWAPNLLRSKEIEATGCNGDAAFLAVRVQQVVIEFILN    141 - 210
HVDQIFNNGAPGSLENDENRPIMKSLTLPALSLPMKLVSLEEAQARSLATNHPARKERRENSLPEIVPPM    211 - 280
GTLFHTVLELPDNKRKLSSKSKKWKSIFNLGRSGSDSKSKLSRNGSVFVRGQRLSVEKATIRPAKSMDSL    281 - 350
CSVPVEGKETKGNFNRTVTTGGFFIPATKMHSTGTGSSCDLTKQEGEWGQEGMPPGAEGGFDVSSDRSHL    351 - 420
QGAQARPPPEQLKVFRPVEDPESEQTAPKMLGMFYTSNDSPSKSVFTSSLFQMEPSPRNQRKALNISEPF    421 - 490
AVSVPLRVSAVISTNSTPCRTPPKELQSLSSLEEFSFHGSESGGWPEEEKPLGAETSAASVPKKAGLEDA    491 - 560
KAVPEAPGTVECSKGLSQEPGAHLEEKKTPESSLSSQHLNELEKRPNPEKVVEEGREAGEMESSTLQESP    561 - 630
RARAEAVLLHEMDEDDLANALIWPEIQQELKIIESEEELSSLPPPALKTSPIQPILESSLGPFIPSEPPG    631 - 700
SLPCGSFPAPVSTPLEVWTRDPANQSTQGASTAASREKPEPEQGLHPDLASLAPLEIVPFEKASPQATVE    701 - 770
VGGPGNLSPPLPPAPPPPTPLEESTPVLLSKGGPEREDSSRKLRTDLYIDQLKSQDSPEISSLCQGEEAT    771 - 840
PRHSDKQNSKNAASEGKGCGFPSPTREVEIVSQEEEDVTHSVQEPSDCDEDDTVTDIAQHGLEMVEPWEE    841 - 910
PQWVTSPLHSPTLKDAHKAQVQGLQGHQLEKRLSHRPSLRQSHSLDSKPTVKSQWTLEVPSSSSCANLET    911 - 980
ERNSDPLQPQAPRREITGWDEKALRSFREFSGLKGAEAPPNQKGPSGVQPNPAETSPISLAEGKELGTHL    981 - 1050
GHSSPQIRQGGVPGPESSKESSPSVQDSTSPGEHPAKLQLKSTECGPPKGKNRPSSLNLDPAIPIADLFW   1051 - 1120
FENVASFSSPGMQVSEPGDPKVTWMTSSYCKADPWRVYSQDPQDLDIVAHALTGRRNSAPVSVSAVRTSF   1121 - 1190
MVKMCQARAVPVIPPKIQYTQIPQPLPSQSSGENGVQPLERSQEGPSSTSGTTQKPAKDDSPSSLESSKE   1191 - 1260
EKPKQDPGAIKSSPVDATAPCMCEGPTLSPEPGSSNLLSTQDAVVQCRKRMSETEPSGDNLLSSKLERPS   1261 - 1330
GGSKPFHRSRPGRPQSLILFSPPFPIMDHLPPSSTVTDSKVLLSPIRSPTQTVSPGLLCGELAENTWVTP   1331 - 1400
EGVTLRNKMTIPKNGQRLETSTSCFYQPQRRSVILDGRSGRQIE                             1401 - 1444
//

Text Mined References (23)

PMID Year Title
24668619 2014 Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.
24632816 2014 The focal adhesion-localized CdGAP regulates matrix rigidity sensing and durotaxis.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23894747 2013 A comprehensive family-based replication study of schizophrenia genes.
22907917 2012 CdGAP regulates cell migration and adhesion dynamics in two-and three-dimensional matrix environments.
22518840 2012 A stretch of polybasic residues mediates Cdc42 GTPase-activating protein (CdGAP) binding to phosphatidylinositol 3,4,5-trisphosphate and regulates its GAP activity.
21774070 2011 Genetic cause of rare disease may be involved in more common birth defects.
21565291 2011 Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
21565175 2011 ARHGAP30 is a Wrch-1-interacting protein involved in actin dynamics and cell adhesion.
20190752 2010 Multiple common variants for celiac disease influencing immune gene expression.
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