Gene Gene information from NCBI Gene database.
Entrez ID 9411
Gene name Rho GTPase activating protein 29
Gene symbol ARHGAP29
Synonyms (NCBI Gene)
PARG1
Chromosome 1
Chromosome location 1p22.1-p21.3
Summary Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for R
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs1114167280 C>G Pathogenic Splice acceptor variant
rs1114167281 G>T Pathogenic Stop gained, coding sequence variant
rs1114167282 C>T Pathogenic Splice donor variant
rs1570497770 C>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
428
miRTarBase ID miRNA Experiments Reference
MIRT003762 hsa-miR-1-3p Microarray 15685193
MIRT004075 hsa-miR-124-3p Microarray 15685193
MIRT005817 hsa-miR-204-5p Microarray 21282569
MIRT004075 hsa-miR-124-3p Microarray 15685193
MIRT003762 hsa-miR-1-3p Microarray 15685193
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity TAS 9305890
GO:0005515 Function Protein binding IPI 32814053
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610496 30207 ENSG00000137962
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q52LW3
Protein name Rho GTPase-activating protein 29 (PTPL1-associated RhoGAP protein 1) (Rho-type GTPase-activating protein 29)
Protein function GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has strong activity toward RHOA, and weaker activity toward RAC1 and CDC42. May act as a specific effector of RAP2A to regulate Rho. In concert with RAS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00130 C1_1 613 660 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00620 RhoGAP 685 859 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in skeletal muscle and heart. Expressed at intermediate level in placenta, liver and pancreas. Weakly expressed in brain, lung and kidney. {ECO:0000269|PubMed:9305890}.
Sequence
MIAHKQKKTKKKRAWASGQLSTDITTSEMGLKSLSSNSIFDPDYIKELVNDIRKFSHMLL
YLKEAIFSDCFKEVIHIRLEELLRVLKSIMNKHQNLNSVDLQNAAEMLTAKVKAVNFTEV
NEENKNDLFQEVFSSIETLAFTFGNILTNFLMGDVGNDSLLRLPVSRETKSFENVSVESV
DSSSEKGNFSPLELDNVLLKNTDSIELALSYAKTWSKYTKNIVSWVEKKLNLELESTRNM
VKLAEATRTNIGIQEFMPLQSLFTNALLNDIESSHLLQQTIAALQANKFVQPLLGRKNEM
EKQRKEIKELWKQEQNKMLEAENALKKAKLLCMQRQDEYEKAKSSMFRAEEEHLSSSGGL
AKNLNKQLEKKRRLEEEALQKVEEANELYKVCVTNVEERRNDLENTKREILAQLRTLVFQ
CDLTLKAVTVNLFHMQHLQAASLADSLQSLCDSAKLYDPGQEYSEFVKATNSTEEEKVDG
NVNKHLNSSQPSGFGPANSLEDVVRLPDSSNKIEEDRCSNSADITGPSFIRSWTFGMFSD
SESTGGSSESRSLDSESISPGDFHRKLPRTPSSGTMSSADDLDEREPPSPSETGPNSLGT
FKKTLMSKAALTHKFRKLRSPTKCRDCEGIVVFQGVECEECLLVCHRKCLENLVIICGHQ
KLPGKIHLFGAEFTQVAKKEPDGIPFILKICASEIENRALCLQGIYRVCGNKIKTEKLCQ
ALENGMHLVDISEFSSHDICDVLKLYLRQLPEPFILFRLYKEFIDLAKEIQHVNEEQETK
KNSLEDKKWPNMCIEINRILLKSKDLLRQLPASNFNSLHFLIVHLKRVVDHAEENKMNSK
NLGVIFGPSLIRPRPTTAP
ITISSLAEYSNQARLVEFLITYSQKIFDGSLQPQDVMCSIG
VVDQGCFPKPLLSPEERDIERSMKSLFFSSKEDIHTSESESKIFERATSFEESERKQNAL
GKCDACLSDKAQLLLDQEAESASQKIEDGKTPKPLSLKSDRSTNNVERHTPRTKIRPVSL
PVDRLLLASPPNERNGRNMGNVNLDKFCKNPAFEGVNRKDAATTVCSKFNGFDQQTLQKI
QDKQYEQNSLTAKTTMIMPSALQEKGVTTSLQISGDHSINATQPSKPYAEPVRSVREASE
RRSSDSYPLAPVRAPRTLQPQHWTTFYKPHAPIISIRGNEEKPASPSAAVPPGTDHDPHG
LVVKSMPDPDKASACPGQATGQPKEDSEELGLPDVNPMCQRPRLKRMQQFEDLEGEIPQF
V
Sequence length 1261
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
33
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ARHGAP29-related disorder Likely pathogenic rs2524205825 RCV003394312
Nonsyndromic cleft lip with or without cleft palate Pathogenic rs1114167281, rs1114167280, rs1114167282, rs1570497770 RCV000491051
RCV000491498
RCV000491061
RCV000852348
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cleft palate Conflicting classifications of pathogenicity rs779178615 RCV004786721
Familial cancer of breast Likely benign rs755688126 RCV005936804
Isolated cleft palate Uncertain significance rs901902219 RCV001823022
Ovarian serous cystadenocarcinoma Uncertain significance rs761200097 RCV005932491
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 33291460
Carcinogenesis Associate 19457610
Carcinoma Renal Cell Associate 34222474
Cleft Lip Associate 28662356
Cleft Palate Associate 24738728, 27369588, 33150183
Glioblastoma Associate 40053455
Glioma Associate 40053455
Kidney Diseases Stimulate 37443829
Lymphoma Mantle Cell Associate 17488656, 18699851
Neoplasms Inhibit 17488656