RAD9B (RAD9 checkpoint clamp component B)

Gene

• Entrez ID: 144715
• Gene name: RAD9 checkpoint clamp component B
• Gene symbol: RAD9B
• Synonyms (NCBI Gene): -
• Chromosome: 12
• Chromosome location: 12q24.11

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs747100389	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs748778907	->C	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs763079713	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1593037878	A>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1593083585	T>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT495415	hsa-miR-335-5p	PAR-CLIP	22012620
MIRT495413	hsa-miR-187-5p	PAR-CLIP	22012620
MIRT495415	hsa-miR-335-5p	PAR-CLIP	23708386
MIRT495413	hsa-miR-187-5p	PAR-CLIP	23708386
MIRT495415	hsa-miR-335-5p	PAR-CLIP	22012620
MIRT495413	hsa-miR-187-5p	PAR-CLIP	22012620
MIRT495415	hsa-miR-335-5p	PAR-CLIP	23708386
MIRT495413	hsa-miR-187-5p	PAR-CLIP	23708386
MIRT2393423	hsa-miR-3155	CLIP-seq
MIRT2393424	hsa-miR-3155b	CLIP-seq
MIRT2393425	hsa-miR-34a	CLIP-seq
MIRT2393426	hsa-miR-34c-5p	CLIP-seq
MIRT2393427	hsa-miR-431	CLIP-seq
MIRT2393428	hsa-miR-449a	CLIP-seq
MIRT2393429	hsa-miR-449b	CLIP-seq
MIRT2393430	hsa-miR-484	CLIP-seq
MIRT2393431	hsa-miR-510	CLIP-seq
MIRT2393432	hsa-miR-626	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000076	Process	DNA replication checkpoint signaling	IBA
GO:0000077	Process	DNA damage checkpoint signaling	IEA
GO:0005515	Function	Protein binding	IPI	14500360
GO:0005634	Component	Nucleus	IDA	14500360
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006281	Process	DNA repair	IBA
GO:0006281	Process	DNA repair	IEA
GO:0030896	Component	Checkpoint clamp complex	IBA
GO:0030896	Component	Checkpoint clamp complex	IEA
GO:0031573	Process	Mitotic intra-S DNA damage checkpoint signaling	IBA
GO:0071479	Process	Cellular response to ionizing radiation	IBA

Other IDs

• MIM: 608368
• HGNC: 21700
• e!Ensembl: ENSG00000151164

Protein

• UniProt ID: Q6WBX8
• Protein name: Cell cycle checkpoint control protein RAD9B (DNA repair exonuclease rad9 homolog B) (hRAD9B)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04139	Rad9	14 → 273	Rad9	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis and skeletal muscle. {ECO:0000269|PubMed:14500360, ECO:0000269|PubMed:14611806}.
• Sequence:

  MLKCVMSGSQVKVFGKAVQALSRISDEFWLDPSKKGLALRCVNSSRSAYGCVLFSPVFFQ
  HYQWSALVKMSENELDTTLHLKCKLGMKSILPIFRCLNSLERNIEKCRIFTRSDKCKVVI
  QFFYRHGIKRTHNICFQESQPLQVIFDKNVCTNTLMIQPRLLADAIVLFTSSQEEVTLAV
  TPLNFCLKSSNEESMDLSNAVHSEMFVGSDEFDFFQIGMDTEITFCFKELKGILTFSEAT
  HAPISIYFDFPGKPLALSIDDMLVEANFILATLADEQSRASSPQSLCLSQKRKRSDLIEK
  KAGKNVTGQALECISKKAAPRRLYPKETLTNISALENCGSPAMKRVDGDVSEVSESSVSN
  TEEVPGSLCLRKFSCMFFGAVSSDQQEHFNHPFDSLARASDSEEDMNNVCCRKEFNGSDA
  KYFCII

• Sequence length: 426

Pathways

KEGG:

Cellular senescence

Reactome:

Activation of ATR in response to replication stress
HDR through Single Strand Annealing (SSA)
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Neural tube defect	Likely pathogenic; Pathogenic	rs763079713, rs1593037878, rs747100389, rs372056091, rs1593083585, rs778121031, rs748778907	RCV000855674 RCV000855676 RCV000855677 RCV000855731 RCV000855732 RCV001089480 RCV000855752	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RAD9B-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	31164693	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	14500360		★☆☆☆☆ Found in Text Mining only