Property Summary

NCBI Gene PubMed Count 19
PubMed Score 12.82
PubTator Score 14.69

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (13)

Disease log2 FC p
oligodendroglioma 1.200 3.3e-03
astrocytoma 1.100 5.7e-17
medulloblastoma, large-cell -1.100 1.6e-03
tuberculosis and treatment for 6 months -1.500 2.7e-04
non-small cell lung cancer -1.958 2.5e-27
lung adenocarcinoma -1.900 3.6e-18
group 4 medulloblastoma -1.500 3.1e-06
pilocytic astrocytoma 1.400 5.7e-08
lung carcinoma -2.600 2.7e-25
spina bifida 1.105 2.3e-02
Alzheimer's disease 1.200 2.3e-02
Pick disease 1.200 2.9e-03
invasive ductal carcinoma -1.100 5.6e-03

Synonym

Accession Q2M1Z3 Q9ULL6
Symbols AOS1
CDGAP

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 GWAS Trait (1)

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.
19706030 2009 Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking.
17158447 2007 Glycogen synthase kinase-3 phosphorylates CdGAP at a consensus ERK 1 regulatory site.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16519628 2006 The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA.
15761153 2005 High-throughput mapping of a dynamic signaling network in mammalian cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12819203 2003 GC-GAP, a Rho family GTPase-activating protein that interacts with signaling adapters Gab1 and Gab2.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12192056 2002 Activation of rac and cdc42 video imaged by fluorescent resonance energy transfer-based single-molecule probes in the membrane of living cells.
11744688 2002 The activity of the GTPase-activating protein CdGAP is regulated by the endocytic protein intersectin.
10574462 1999 Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
9786927 1998 CdGAP, a novel proline-rich GTPase-activating protein for Cdc42 and Rac.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.