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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ARHGAP29-related disorder Likely pathogenic rs2524205825 RCV003394312
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic cleft lip with or without cleft palate Pathogenic rs1114167281, rs1114167280, rs1114167282, rs1570497770 RCV000491051
RCV000491498
RCV000491061
RCV000852348
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT LIP WITH OR WITHOUT CLEFT PALATE Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cleft palate Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT PALATE WITH CLEFT LIP Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 33291460 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 19457610 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 34222474 Associate
★☆☆☆☆
Found in Text Mining only
Cleft Lip Cleft lip Pubtator 28662356 Associate
★☆☆☆☆
Found in Text Mining only
Cleft Lip with or without Cleft Palate Cleft Lip With Or Without Cleft Palate BEFREE 23008150
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cleft Lip with or without Cleft Palate Cleft Lip With Or Without Cleft Palate GENOMICS_ENGLAND_DG 27033726
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cleft Palate Cleft palate Pubtator 24738728, 27369588, 33150183 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cleft palate and bilateral cleft lip Cleft Palate And Bilateral Cleft Lip CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Conductive hearing loss Hearing Loss HPO_DG
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 40053455 Associate
★☆☆☆☆
Found in Text Mining only