Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
166378
Gene name Gene Name - the full gene name approved by the HGNC.
AAA ATPase AFG2A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AFG2A
Synonyms (NCBI Gene) Gene synonyms aliases
AFG2, EHLMRS, NEDHSB, SPAF, SPATA5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDHSB
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q28.1
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs139834687 C>A,T Pathogenic, likely-benign Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs141576468 G>A Uncertain-significance, likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs143384152 A>G Conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
rs149688478 G>A Pathogenic Splice donor variant
rs375343753 G>C Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031674 hsa-miR-16-5p Proteomics 18668040
MIRT629913 hsa-miR-383-3p HITS-CLIP 23824327
MIRT629912 hsa-miR-125a-3p HITS-CLIP 23824327
MIRT629911 hsa-miR-764 HITS-CLIP 23824327
MIRT629910 hsa-miR-3934-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 18445686
GO:0005739 Component Mitochondrion IEA
GO:0005819 Component Spindle IDA 18445686
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613940 18119 ENSG00000145375
Protein
UniProt ID Q8NB90
Protein name ATPase family gene 2 protein homolog A (EC 3.6.4.10) (AFG2 AAA ATPase homolog A) (Ribosome biogenesis protein SPATA5) (Spermatogenesis-associated factor protein) (Spermatogenesis-associated protein 5)
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 390 523 ATPase family associated with various cellular activities (AAA) Domain
PF17862 AAA_lid_3 547 603 AAA+ lid domain Domain
PF00004 AAA 664 796 ATPase family associated with various cellular activities (AAA) Domain
PF17862 AAA_lid_3 818 864 AAA+ lid domain Domain
Sequence
MSSKKNRKRLNQSAENGSSLPSAASSCAEARAPSAGSDFAATSGTLTVTNLLEKVDDKIP
KTFQNSLIHLGLNTMKSANICIGRPVLLTSLNGKQEVYTAWPMAGFPGGKVGLSEMAQKN
VGVRPGDAIQVQPLVGAVLQAEEMDVALSDKDMEINEEELTGCILRKLDGKIVLPGNFLY
CTFYGRPYKLQVLRVKGADGMILGGPQSDSDTDAQRMAFEQSSMETSSLELSLQLSQLDL
EDTQIPTSRSTPYKPIDDRITNKASDVLLDVTQSPGDGSGLMLEEVTGLKCNFESAREGN
EQLTEEERLLKFSIGAKCNTDTFYFISSTTRVNFTEIDKNSKEQDNQFKVTYDMIGGLSS
QLKAIREIIELPLKQPELFKSYGIPAPRGVLLYGPPGTGKTMIARAVANEVGAYVSVING
PEIISKFYGETEAKLRQIFAEATLRHPSIIFIDELDALCPKREGAQNEVEKRVVASLLTL
MDGIGSEVSEGQVLVLGATNRPHALDAALRRPGRFDKEIEIGV
PNAQDRLDILQKLLRRV
PHLLTEAELLQLANSAHGYVGADLKVLCNEAGLCALRRILKKQPNLPDVKVAGLVKITLK
DFL
QAMNDIRPSAMREIAIDVPNVSWSDIGGLESIKLKLEQAVEWPLKHPESFIRMGIQP
PKGVLLYGPPGCSKTMIAKALANESGLNFLAIKGPELMNKYVGESERAVRETFRKARAVA
PSIIFFDELDALAVERGSSLGAGNVADRVLAQLLTEMDGIEQLKDVTILAATNRPDRIDK
ALMRPGRIDRIIYVPL
PDAATRREIFKLQFHSMPVSNEVDLDELILQTDAYSGAEIVAVC
REAALLALEEDIQANLIMKRHFTQ
ALSTVTPRIPESLRRFYEDYQEKSGLHTL
Sequence length 893
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Ribosome biogenesis in eukaryotes  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Charcot-marie-tooth disease Charcot-Marie-Tooth Disease, Type Ia (disorder) rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295
View all (1137 more)
30706531
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Irritable Bowel Syndrome Irritable Bowel Syndrome GWAS
Acne Acne GWAS
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA