Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	144715
Gene name	RAD9 checkpoint clamp component B
Gene symbol	RAD9B
Synonyms (NCBI Gene)	-
Chromosome	12
Chromosome location	12q24.11

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

18 Show/Hide all (18)

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

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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

MIM	HGNC	e!Ensembl
608368	21700	ENSG00000151164

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

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Cellular senescence	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

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neural tube defect	Likely pathogenic; Pathogenic	rs763079713, rs1593037878, rs747100389, rs372056091, rs1593083585, rs778121031, rs748778907	RCV000855674 RCV000855676 RCV000855677 RCV000855731 RCV000855732 RCV001089480 RCV000855752 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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.
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

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

Related Gene	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Names
HUS1	[]	7	["Cellular senescence","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","Activation of ATR in response to replication stress"]	[]
RAD1	[]	7	["Cellular senescence","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","Activation of ATR in response to replication stress"]	[]
RAD9A	[]	7	["Cellular senescence","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","Activation of ATR in response to replication stress"]	[]
RAD17	[]	6	["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","Activation of ATR in response to replication stress"]	[]
ATRIP	[]	6	["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","Activation of ATR in response to replication stress"]	[]

RAD9B (RAD9 checkpoint clamp component B)

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