AFG2B (AAA ATPase AFG2B)

Gene

• Entrez ID: 79029
• Gene name: AAA ATPase AFG2B
• Gene symbol: AFG2B
• Synonyms (NCBI Gene): DFNB119, NEDHLS, SPATA5L1
• Disease Acronyms (UniProt): DFNB119, NEDHLS
• Chromosome: 15
• Chromosome location: 15q21.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1382752	hsa-miR-21	CLIP-seq
MIRT1382753	hsa-miR-361-5p	CLIP-seq
MIRT1382754	hsa-miR-3646	CLIP-seq
MIRT1382755	hsa-miR-4269	CLIP-seq
MIRT1382756	hsa-miR-4514	CLIP-seq
MIRT1382757	hsa-miR-4692	CLIP-seq
MIRT1382758	hsa-miR-4700-3p	CLIP-seq
MIRT1382759	hsa-miR-4719	CLIP-seq
MIRT1382760	hsa-miR-4742-5p	CLIP-seq
MIRT1382761	hsa-miR-5095	CLIP-seq
MIRT1382762	hsa-miR-548c-3p	CLIP-seq
MIRT1382763	hsa-miR-590-5p	CLIP-seq
MIRT1382764	hsa-miR-600	CLIP-seq
MIRT1382752	hsa-miR-21	CLIP-seq
MIRT1382753	hsa-miR-361-5p	CLIP-seq
MIRT1382755	hsa-miR-4269	CLIP-seq
MIRT1382756	hsa-miR-4514	CLIP-seq
MIRT1382757	hsa-miR-4692	CLIP-seq
MIRT1382760	hsa-miR-4742-5p	CLIP-seq
MIRT1382763	hsa-miR-590-5p	CLIP-seq
MIRT1382752	hsa-miR-21	CLIP-seq
MIRT1382753	hsa-miR-361-5p	CLIP-seq
MIRT1382755	hsa-miR-4269	CLIP-seq
MIRT1382756	hsa-miR-4514	CLIP-seq
MIRT1382757	hsa-miR-4692	CLIP-seq
MIRT1382760	hsa-miR-4742-5p	CLIP-seq
MIRT1382763	hsa-miR-590-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	18445686
GO:0005819	Component	Spindle	IDA	18445686
GO:0016887	Function	ATPase activity	IBA	21873635

Other IDs

• MIM: 619578
• HGNC: 28762
• e!Ensembl: ENSG00000171763

Protein

• UniProt ID: Q9BVQ7
• Protein name: ATPase family gene 2 protein homolog B (EC 3.6.4.10) (AFG2 AAA ATPase homolog B) (Ribosome biogenesis protein SPATA5L1) (Spermatogenesis-associated protein 5-like protein 1)
• Protein function: ATP-dependent chaperone part of the 55LCC heterohexameric ATPase complex which is chromatin-associated and promotes replisome proteostasis to maintain replication fork progression and genome stability. Required for replication fork progression,
• PDB: 8RHN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00004	AAA	237 → 368	ATPase family associated with various cellular activities (AAA)	Domain
  PF17862	AAA_lid_3	390 → 439	AAA+ lid domain	Domain
  PF00004	AAA	501 → 652	ATPase family associated with various cellular activities (AAA)	Domain
  PF17862	AAA_lid_3	674 → 721	AAA+ lid domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in both neurons and glia during embryonic and adult stages of brain development. {ECO:0000269|PubMed:34626583}.
• Sequence:

  MAPDSDPFPEGPLLKLLPLDARDRGTQRCRLGPAALHALGARLGSAVKISLPDGGSCLCT
  AWPRRDGADGFVQLDPLCASPGAAVGASRSRRSLSLNRLLLVPCPPLRRVAVWPVLRERA
  GAPGARNTAAVLEAAQELLRNRPISLGHVVVAPPGAPGLVAALHIVGGTPSPDPAGLVTP
  RTRVSLGGEPPSEAQPQPEVPLGGLSEAADSLRELLRLPLRYPRALTALGLAVPRGVLLA
  GPPGVGKTQLVRAVAREAGAELLAVSAPALQGSRPGETEENVRRVFQRARELASRGPSLL
  FLDEMDALCPQRGSRAPESRVVAQVLTLLDGASGDREVVVVGATNRPDALDPALRRPGRF
  DREVVIGTPTLKQRKEILQVITSKMPISSHVDLGLLAEMTVGYVGADLTALCREAAMHAL
  LHSEKNQDNPVIDEIDFLEAFKNIQPSSFRSVIGLMDIKPVDWEEIGGLEDVKLKLKQSI
  EWPLKFPWEFVRMGLTQPKGVLLYGPPGCAKTTLVRALATSCHCSFVSVSGADLFSPFVG
  DSEKVLSQIFRQARASTPAILFLDEIDSILGARSASKTGCDVQERVLSVLLNELDGVGLK
  TIERRGSKSSQQEFQEVFNRSVMIIAATNRPDVLDTALLRPGRLDKIIYIPPPDHKGRLS
  ILKVCTKTMPIGPDVSLENLAAETCFFSGADLRNLCTEAALLALQENGLDATTVKQEHFL
  KSLKTVKPSLSCKDLALYENLFKKEGFSNVEGI

• Sequence length: 753

Associated diseases

Unknown
Disease term	Disease name	Evidence	References	Source
Deafness	hearing loss, autosomal recessive 119			GenCC
Kidney Disease	Kidney Disease			GWAS