Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23092
Gene name Gene Name - the full gene name approved by the HGNC.
Rho GTPase activating protein 26
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARHGAP26
Synonyms (NCBI Gene) Gene synonyms aliases
GRAF, GRAF1, OPHN1L, OPHN1L1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121918546 A>C,G Pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT052044 hsa-let-7b-5p CLASH 23622248
MIRT044784 hsa-miR-320a CLASH 23622248
MIRT042845 hsa-miR-324-3p CLASH 23622248
MIRT438301 hsa-miR-573 Luciferase reporter assay 24067935
MIRT438301 hsa-miR-573 Luciferase reporter assay 24067935
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000423 Process Mitophagy IDA 38081847
GO:0000423 Process Mitophagy IDA 38081847
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity NAS 10908648
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605370 17073 ENSG00000145819
Protein
UniProt ID Q9UNA1
Protein name Rho GTPase-activating protein 26 (GTPase regulator associated with focal adhesion kinase) (GRAF1) (Oligophrenin-1-like protein) (Rho-type GTPase-activating protein 26)
Protein function GTPase-activating protein for RHOA and CDC42. Facilitates mitochondrial quality control by promoting Parkin-mediated recruitment of autophagosomes to damaged mitochondria (PubMed:38081847). Negatively regulates the growth of human parainfluenza
PDB 1UGV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16746 BAR_3 6 249 Domain
PF00169 PH 266 366 PH domain Domain
PF00620 RhoGAP 391 545 RhoGAP domain Domain
PF14604 SH3_9 763 812 Variant SH3 domain Domain
Sequence
MGLPALEFSDCCLDSPHFRETLKSHEAELDKTNKFIKELIKDGKSLISALKNLSSAKRKF
ADSLNEFKFQCIGDAETDDEMCIARSLQEFATVLRNLEDERIRMIENASEVLITPLEKFR
KEQIGAAKEAKKKYDKETEKYCGILEKHLNLSSKKKESQLQEADSQVDLVRQHFYEVSLE
YVFKVQEVQERKMFEFVEPLLAFLQGLFTFYHHGYELAKDFGDFKTQLTISIQNTRNRFE
GTRSEVESL
MKKMKENPLEHKTISPYTMEGYLYVQEKRHFGTSWVKHYCTYQRDSKQITM
VPFDQKSGGKGGEDESVILKSCTRRKTDSIEKRFCFDVEAVDRPGVITMQALSEEDRRLW
MEAMDG
REPVYNSNKDSQSEGTAQLDSIGFSIIRKCIHAVETRGINEQGLYRIVGVNSRV
QKLLSVLMDPKTASETETDICAEWEIKTITSALKTYLRMLPGPLMMYQFQRSFIKAAKLE
NQESRVSEIHSLVHRLPEKNRQMLQLLMNHLANVANNHKQNLMTVANLGVVFGPTLLRPQ
EETVA
AIMDIKFQNIVIEILIENHEKIFNTVPDMPLTNAQLHLSRKKSSDSKPPSCSERP
LTLFHTVQSTEKQEQRNSIINSSLESVSSNPNSILNSSSSLQPNMNSSDPDLAVVKPTRP
NSLPPNPSPTSPLSPSWPMFSAPSSPMPTSSTSSDSSPVRSVAGFVWFSVAAVVLSLARS
SLHAVFSLLVNFVPCHPNLHLLFDRPEEAVHEDSSTPFRKAKALYACKAEHDSELSFTAG
TVFDNVHPSQEPGWLEGTLNGKTGLIPENYVE
FL
Sequence length 814
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rho GTPase cycle
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myelomonocytic Leukemia juvenile myelomonocytic leukemia rs121918546 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Astrocytoma Pilocytic astrocytoma N/A N/A GWAS
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenomyosis Associate 30387365
ATR X syndrome Associate 20602808
Breast Neoplasms Inhibit 27588930
Carcinoma Renal Cell Associate 35508649
Cardiomyopathy infantile histiocytoid Associate 27282351
Cerebellar Ataxia Associate 35624318
Cognition Disorders Associate 35624318
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 10908648
COVID 19 Associate 34204705
Dyslexia Associate 29409727