ARHGAP4 (Rho GTPase activating protein 4)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
393
Gene name Gene Name - the full gene name approved by the HGNC.
Rho GTPase activating protein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARHGAP4
Synonyms (NCBI Gene) Gene synonyms aliases
C1, RGC1, RhoGAP4, SrGAP4, p115
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can re
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT794919 hsa-miR-4738-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 16417406
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA
GO:0005794 Component Golgi apparatus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300023 674 ENSG00000089820
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P98171
Protein name Rho GTPase-activating protein 4 (Rho-GAP hematopoietic protein C1) (Rho-type GTPase-activating protein 4) (p115)
Protein function Inhibitory effect on stress fiber organization. May down-regulate Rho-like GTPase in hematopoietic cells.
PDB 2EPD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00611 FCH 31 → 119 Fes/CIP4, and EFC/F-BAR homology domain Family
PF00620 RhoGAP 521 → 672 RhoGAP domain Domain
PF14604 SH3_9 753 → 801 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly in hematopoietic cells (spleen, thymus and leukocytes); low levels in placenta, lung and various fetal tissues.
Sequence 
MAAHGKLRRERGLQAEYETQVKEMRWQLSEQLRCLELQGELRRELLQELAEFMRRRAEVE
LEYSRGLEKLAERFSSRGGRLGSSREHQSFRKEPSLLSPLHCWAVLLQHTRQQSRESAAL
SEVLAGPLAQRLSHIAEDVGRLVKKSRDLEQQLQDELLEVVSELQTAKKTYQAYHMESVN
AEAKLREAERQEEKRAGRSVPTTTAGATEAGPLRKSSLKKGGRLVEKRQAKFMEHKLKCT
KARNEYLLSLASVNAAVSNYYLHDVLDLMDCCDTGFHLALGQVLRSYTAAESRTQASQVQ
GLGSLEEAVEALDPPGDKAKVLEVHATVFCPPLRFDYHPHDGDEVAEICVEMELRDEILP
RAQNIQSRLDRQTIETEEVNKTLKATLQALLEVVASDDGDVLDSFQTSPSTESLKSTSSD
PGSRQAGRRRGQQQETETFYLTKLQEYLSGRSILAKLQAKHEKLQEALQRGDKEEQEVSW
TQYTQRKFQKSRQPRPSSQYNQRLFGGDMEKFIQSSGQPVPLVVESCIRFINLNGLQHEG
IFRVSGAQLRVSEIRDAFERGEDPLVEGCTAHDLDSVAGVLKLYFRSLEPPLFPPDLFGE
LLASSELEATAERVEHVSRLLWRLPAPVLVVLRYLFTFLNHLAQYSDENMMDPYNLAVCF
GPTLLPVPAGQDPVALQGRVNQLVQTLIVQPDRVFPPLTSLPGPVYEKCMAPPSASCLGD
AQLESLGADNEPELEAEMPAQEDDLEGVVEAVACFAYTGRTAQELSFRRGDVLRLHERAS
SDWWRGEHNGMRGLIPHKYITLPAGTEKQVVGAGLQTAGESGSSPEGLLASELVHRPEPC
TSPEAMGPSGHRRRCLVPASPEQHVEVDKAVAQNMDSVFKELLGKTSVRQGLGPASTTSP
SPGPRSPKAPPSSRLGRNKGFSRGPGAPASPSASHPQGLDTTPKPH
Sequence length 946
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Rho GTPase cycle
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Syndromic microphthalmia Microphthalmia, syndromic 1 rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457
View all (19 more)
Ogden syndrome Ogden syndrome rs387906701, rs587780562, rs863225427, rs878853263, rs1057519448, rs1557107462, rs1557107543, rs1557107528, rs1569546255, rs1603290816, rs1603290291, rs1557107942 28327206
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 24043878
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Mental retardation intellectual disability GenCC
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 36405716
Anemia Sickle Cell Associate 17156400
Carcinoma Hepatocellular Inhibit 19715608
Diabetes Insipidus Nephrogenic Associate 18489790, 29394883
Hepatitis B Chronic Inhibit 19715608
Immunologic Deficiency Syndromes Associate 18489790
Liver Cirrhosis Inhibit 19715608
Neoplasms Associate 27458145
Polycystic Ovary Syndrome Stimulate 28949383
Squamous Cell Carcinoma of Head and Neck Associate 32831060