Gene Gene information from NCBI Gene database.
Entrez ID 79822
Gene name Rho GTPase activating protein 28
Gene symbol ARHGAP28
Synonyms (NCBI Gene)
-
Chromosome 18
Chromosome location 18p11.31
miRNA miRNA information provided by mirtarbase database.
58
miRTarBase ID miRNA Experiments Reference
MIRT022171 hsa-miR-124-3p Microarray 18668037
MIRT026097 hsa-miR-196a-5p Sequencing 20371350
MIRT027425 hsa-miR-98-5p Microarray 19088304
MIRT794367 hsa-miR-124 CLIP-seq
MIRT794368 hsa-miR-3161 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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
GO:0005654 Component Nucleoplasm IDA
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
610592 25509 ENSG00000088756
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P2N2
Protein name Rho GTPase-activating protein 28 (Rho-type GTPase-activating protein 28)
Protein function GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00620 RhoGAP 399 552 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in testis. Expressed at moderate level in kidney and ovary, and weakly expressed in spleen and skeletal muscle. {ECO:0000269|PubMed:10718198}.
Sequence
MEVEDSGGVVLTAYHSYARAQPPNAESRCAPRAAASHPLSRKSIPRCRRINRMLSNESLH
PPAFSRSNSEASVDSASMEDFWREIESIKDSSMGGQEEPPPAEVTPVDEGELEAEWLQDV
GLSTLISGDEEEDGKALLSTLTRTQAAAVQKRYHTYTQTMRKKDKQSIRDVRDIFGVSES
PPRDTCGNHTNQLDGTKEERELPRVIKTSGSMPDDASLNSTTLSDASQDKEGSFAVPRSD
SVAILETIPVLPVHSNGSPEPGQPVQNAISDDDFLEKNIPPEAEELSFEVSYSEMVTEAL
KRNKLKKSEIKKEDYVLTKFNVQKTRFGLTEAGDLSAEDMKKIRHLSLIELTAFFDAFGI
QLKRNKTEKVKGRDNGIFGVPLTVLLDGDRKKDPGVKVPLVLQKFFEKVEESGLESEGIF
RLSGCTAKVKQYREELDAKFNADKFKWDKMCHREAAVMLKAFFRELPTSLFPVEYIPAFI
SLMERGPHVKVQFQALHLMVMALPDANRDAAQALMTFFNKVIANESKNRMSLWNISTVMA
PNLFFSRSKHSD
YEELLLANTAAHIIRLMLKYQKILWKVPSFLITQVRRMNEATMLLKKQ
LPSVRKLLRRKTLERETASPKTSKVLQKSPSARRMSDVPEGVIRVHAPLLSKVSMAIQLN
NQTKAKDILAKFQYENSHGSSECIKIQNQRLYEIGGNIGEHCLDPDAYILDVYRINPQAE
WVIKPQQSS
Sequence length 729
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
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
ARHGAP28-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS CTD, Disgenet
CTD, 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
Endometrioma Endometrioma CTD_human_DG 20864642
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis CTD_human_DG 20864642
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 19885562
★☆☆☆☆
Found in Text Mining only