• Gene id: 393

Gene Summary

• Gene Symbol: ARHGAP4   Gene   UCSC   Ensembl
• Aliases: C1, RGC1, RhoGAP4, SrGAP4, p115
• Gene name: Rho GTPase activating protein 4
• Alternate names: rho GTPase-activating protein 4, Rho-GAP hematopoietic protein C1, rho-type GTPase-activating protein 4,
• Gene location: Xq28 (153926263: 153907377)     Exons: 23     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 603580

SNPs

rs2855658

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.38069747T>C
NC_000002.11   g.38296890T>C
NG_008386.2   g.11355A>G
NM_000104.3   c.*975A>G|SEQ=[T/C]|GENE=CYP1B1
RMDN2   151393

rs1422627

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45913480C>G
NC_000019.10   g.45913480C>T
NC_000019.9   g.46416738C>G
NC_000019.9   g.46416738C>T
NM_001029861.2   c.*797G>C
NM_001029861.2   c.*797G>A
NM_001029861.3   c.*797G>C
NM_001029861.3   c.*797G>A|SEQ=[C/G/T]|GENE=NANOS2

rs9304651

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45916515A>G
NC_000019.9   g.46419773A>G|SEQ=[A/G]|GENE=NANOS2

rs2015728

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45915628G>A
NC_000019.10   g.45915628G>T
NC_000019.9   g.46418886G>A
NC_000019.9   g.46418886G>T|SEQ=[G/A/T]|GENE=NANOS2

Protein Summary

• Protein general information: P98171  
  • Name: Rho GTPase activating protein 4 (Rho GAP hematopoietic protein C1) (Rho type GTPase activating protein 4) (p115)
  • Length: 946  
  • Mass: 105026
  • Tissue specificity: Predominantly in hematopoietic cells (spleen, thymus and leukocytes); low levels in placenta, lung and various fetal tissues.
• Sequence:

  MAAHGKLRRERGLQAEYETQVKEMRWQLSEQLRCLELQGELRRELLQELAEFMRRRAEVELEYSRGLEKLAERFS
  SRGGRLGSSREHQSFRKEPSLLSPLHCWAVLLQHTRQQSRESAALSEVLAGPLAQRLSHIAEDVGRLVKKSRDLE
  QQLQDELLEVVSELQTAKKTYQAYHMESVNAEAKLREAERQEEKRAGRSVPTTTAGATEAGPLRKSSLKKGGRLV
  EKRQAKFMEHKLKCTKARNEYLLSLASVNAAVSNYYLHDVLDLMDCCDTGFHLALGQVLRSYTAAESRTQASQVQ
  GLGSLEEAVEALDPPGDKAKVLEVHATVFCPPLRFDYHPHDGDEVAEICVEMELRDEILPRAQNIQSRLDRQTIE
  TEEVNKTLKATLQALLEVVASDDGDVLDSFQTSPSTESLKSTSSDPGSRQAGRRRGQQQETETFYLTKLQEYLSG
  RSILAKLQAKHEKLQEALQRGDKEEQEVSWTQYTQRKFQKSRQPRPSSQYNQRLFGGDMEKFIQSSGQPVPLVVE
  SCIRFINLNGLQHEGIFRVSGAQLRVSEIRDAFERGEDPLVEGCTAHDLDSVAGVLKLYFRSLEPPLFPPDLFGE
  LLASSELEATAERVEHVSRLLWRLPAPVLVVLRYLFTFLNHLAQYSDENMMDPYNLAVCFGPTLLPVPAGQDPVA
  LQGRVNQLVQTLIVQPDRVFPPLTSLPGPVYEKCMAPPSASCLGDAQLESLGADNEPELEAEMPAQEDDLEGVVE
  AVACFAYTGRTAQELSFRRGDVLRLHERASSDWWRGEHNGMRGLIPHKYITLPAGTEKQVVGAGLQTAGESGSSP
  EGLLASELVHRPEPCTSPEAMGPSGHRRRCLVPASPEQHVEVDKAVAQNMDSVFKELLGKTSVRQGLGPASTTSP
  SPGPRSPKAPPSSRLGRNKGFSRGPGAPASPSASHPQGLDTTPKPH

• Structural information:
  • Protein Domains: (19..31-)
    (/note="F-BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01077-)
    (507..69-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172-)
    (746..80-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR031160  IPR001060  IPR008936  IPR000198   IPR036028  IPR001452  IPR035678  
  • Prosite: PS51741 PS50238 PS50002
  • CDD: cd11956
  • PDB: 2EPD
  • PDBsum: 2EPD
  • DIP: 41592
  • STRING: ENSP00000359045
• Other Databases: GeneCards:  ARHGAP4  Malacards:  ARHGAP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030336	negative regulation of cell migration	IBA	biological process
GO:0048365	Rac GTPase binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0007010	cytoskeleton organization	TAS	biological process
GO:0007266	Rho protein signal transduction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0010764	negative regulation of fibroblast migration	IEA	biological process
GO:0030517	negative regulation of axon extension	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0030426	growth cone	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
P06959	CCKR signaling map

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881