• Gene id: 64137

Gene Summary

• Gene Symbol: ABCG4   Gene   UCSC   Ensembl
• Aliases: WHITE2
• Gene name: ATP binding cassette subfamily G member 4
• Alternate names: ATP-binding cassette sub-family G member 4, ATP-binding cassette, sub-family G (WHITE), member 4, putative ABC transporter,
• Gene location: 11q23.3 (119149051: 119162665)     Exons: 17     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/T

Protein Summary

• Protein general information: Q9H172  
  • Name: ATP binding cassette sub family G member 4
  • Length: 646  
  • Mass: 71896
  • Tissue specificity: Highly expressed in brain tissues with the exception of the spinal cord. {ECO
• Sequence:

  MAEKALEAVGCGLGPGAVAMAVTLEDGAEPPVLTTHLKKVENHITEAQRFSHLPKRSAVDIEFVELSYSVREGPC
  WRKRGYKTLLKCLSGKFCRRELIGIMGPSGAGKSTFMNILAGYRESGMKGQILVNGRPRELRTFRKMSCYIMQDD
  MLLPHLTVLEAMMVSANLKLSEKQEVKKELVTEILTALGLMSCSHTRTALLSGGQRKRLAIALELVNNPPVMFFD
  EPTSGLDSASCFQVVSLMKSLAQGGRTIICTIHQPSAKLFEMFDKLYILSQGQCIFKGVVTNLIPYLKGLGLHCP
  TYHNPADFIIEVASGEYGDLNPMLFRAVQNGLCAMAEKKSSPEKNEVPAPCPPCPPEVDPIESHTFATSTLTQFC
  ILFKRTFLSILRDTVLTHLRFMSHVVIGVLIGLLYLHIGDDASKVFNNTGCLFFSMLFLMFAALMPTVLTFPLEM
  AVFMREHLNYWYSLKAYYLAKTMADVPFQVVCPVVYCSIVYWMTGQPAETSRFLLFSALATATALVAQSLGLLIG
  AASNSLQVATFVGPVTAIPVLLFSGFFVSFKTIPTYLQWSSYLSYVRYGFEGVILTIYGMERGDLTCLEERCPFR
  EPQSILRALDVEDAKLYMDFLVLGIFFLALRLLAYLVLRYRVKSER

• Structural information:
  • Protein Domains: (61..30-)
    (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (386..64-)
    type-2" (/note="ABC-transmembrane)
  • Interpro: IPR003593  IPR013525  IPR003439  IPR017871  IPR027417  
  • Prosite: PS00211 PS50893
  • STRING: ENSP00000481728
• Other Databases: GeneCards:  ABCG4  Malacards:  ABCG4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0055085	transmembrane transport	IBA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0033344	cholesterol efflux	TAS	biological process
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa02010	ABC transporters

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq