CASC2

cancer susceptibility 2, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Previous symbols: [ "C10orf5" ]

Links

ENSG00000177640 ∙ NCBI:255082 ∙ OMIM:608598 ∙ HGNC:22933 ∙ Uniprot:Q6XLA1, Q8IU53 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CASC2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CASC2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a potential tumor suppressor. {ECO:0000269|PubMed:15024726, ECO:0000269|PubMed:17352238}.

Haploinsufficiency Scores

• pHI: 0.115

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.283

Gene ontology

• Biological process: defense response to tumor cell;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;negative regulation of MAPK cascade
• Cellular component: cellular_component
• Molecular function: molecular_function