AFG2B (AAA ATPase AFG2B)

Gene

• Entrez ID: 79029
• Gene name: AAA ATPase AFG2B
• Gene symbol: AFG2B
• Synonyms (NCBI Gene): DFNB119, NEDHLS, SPATA5L1
• 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:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	33961781, 35354024, 38554706
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	18445686
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IDA	18445686
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030970	Process	Retrograde protein transport, ER to cytosol	IBA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IBA
GO:0034098	Component	VCP-NPL4-UFD1 AAA ATPase complex	IBA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042273	Process	Ribosomal large subunit biogenesis	IDA	35354024
GO:0042802	Function	Identical protein binding	IPI	38554706
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0051228	Process	Mitotic spindle disassembly	IBA
GO:0097352	Process	Autophagosome maturation	IBA
GO:1990275	Function	Preribosome binding	IDA	35354024

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
AFG2B-related disorder	Likely pathogenic; Pathogenic	rs145451123, rs1372719653	RCV003416130 RCV003399031
Hearing loss, autosomal recessive 119	Likely pathogenic; Pathogenic	rs34675173, rs763343580, rs765912979, rs747177622, rs145451123	RCV001779311 RCV001779968 RCV001779969 RCV003990814 RCV001779143
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs145451123	RCV002274164
Neurodevelopmental disorder with hearing loss and spasticity	Likely pathogenic; Pathogenic	rs1480279583, rs777812455, rs34675173, rs1230836596, rs1212383243, rs778481503, rs145451123, rs1372719653, rs1890625577	RCV003227574 RCV001779255 RCV001779312 RCV001779313 RCV001779314 RCV001779315 RCV001779144 RCV001779141 RCV001779142
See cases	Likely pathogenic; Pathogenic	rs767220705, rs2140721648, rs2140692680, rs777812455, rs145451123, rs1372719653	RCV001837542 RCV001837543 RCV001837544 RCV001580189 RCV001580190 RCV001838468
SPATA5L1-associated disorder	Likely pathogenic; Pathogenic	rs145451123, rs779907001, rs1372719653, rs1890623871, rs1890625577, rs1890710370	RCV001254169 RCV001254127 RCV001254128 RCV001254130 RCV001254131 RCV001254132
SPATA5L1-related disorder	Likely pathogenic; Pathogenic	rs145451123	RCV005429052