Gene Gene information from NCBI Gene database.
Entrez ID 100144748
Gene name Killin, p53 regulated DNA replication inhibitor
Gene symbol KLLN
Synonyms (NCBI Gene)
CWS4KILLIN
Chromosome 10
Chromosome location 10q23.31
Summary The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53. [provided by Re
miRNA miRNA information provided by mirtarbase database.
561
miRTarBase ID miRNA Experiments Reference
MIRT633456 hsa-miR-383-3p HITS-CLIP 23824327
MIRT633455 hsa-miR-132-5p HITS-CLIP 23824327
MIRT633454 hsa-miR-6089 HITS-CLIP 23824327
MIRT633453 hsa-miR-1908-5p HITS-CLIP 23824327
MIRT633452 hsa-miR-663a HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005730 Component Nucleolus IDA
GO:0006915 Process Apoptotic process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612105 37212 ENSG00000227268
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
B2CW77
Protein name Killin
Protein function DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single-stran
Family and domains
Sequence
MDRPGPGSARPGRTVHVWGYRVEWKVRNGRKLQPSEWAGRGDLGGFKRRWKDTRATVGTT
FRRRSRVSLVGELSKFPLPSDSSGGKSSSSFARGALAWCRQRNPNPSCAAAETGARTSLP
KERCRGWRLGNWLHKHPHPNTCPRLPACWLPPILTERGERVPKLVPLLACYPKSKPKD
Sequence length 178
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
COWDEN DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COWDEN SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cowden syndrome 4 Uncertain significance ClinVar
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
HEREDITARY BREAST CANCER Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autistic Disorder Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Cancer, Familial Breast Cancer ORPHANET_DG 23450725
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21177507, 22580995, 23418309, 23446638, 24356815
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23446638, 36123344 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Cafe au lait spots, multiple Cafe-au-lait spot HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 23386643, 23418309
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 38015024 Associate
★☆☆☆☆
Found in Text Mining only