Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79029
Gene name	AAA ATPase AFG2B
Gene symbol	AFG2B
Synonyms (NCBI Gene)	DFNB119NEDHLSSPATA5L1
Chromosome	15
Chromosome location	15q21.1

Show/Hide all (27)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (25)

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

MIM	HGNC	e!Ensembl
619578	28762	ENSG00000171763

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

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AFG2B-related disorder	Likely pathogenic; Pathogenic	rs145451123, rs1372719653	RCV003416130 RCV003399031	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive 119	Likely pathogenic; Pathogenic	rs34675173, rs763343580, rs765912979, rs747177622, rs145451123	RCV001779311 RCV001779968 RCV001779969 RCV003990814 RCV001779143	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs145451123	RCV002274164	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with hearing loss and spasticity	Likely pathogenic; Pathogenic	rs1480279583, rs777812455, rs34675173, rs1230836596, rs1212383243, rs778481503, rs145451123, rs1372719653, rs1890625577	RCV003227574 RCV001779255 RCV001779312 RCV001779313 RCV001779314 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPATA5L1-associated disorder	Likely pathogenic; Pathogenic	rs145451123, rs779907001, rs1372719653, rs1890623871, rs1890625577, rs1890710370	RCV001254169 RCV001254127 RCV001254128 RCV001254130 RCV001254131 RCV001254132 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPATA5L1-related disorder	Likely pathogenic; Pathogenic	rs145451123	RCV005429052	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 119	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS-SPASTIC QUADRIPLEGIA-INTELLECTUAL DISABILITY SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Chronic Kidney Diseases	Kidney Disease	BEFREE	19430482, 29016630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37902276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	37902276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	26776194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	26831199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	37902276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

AFG2B (AAA ATPase AFG2B)