RASSF2

Ras association domain family member 2, the group of Ras association domain family

Basic information

Region (hg38): 20:4780023-4823608

Links

ENSG00000101265 ∙ NCBI:9770 ∙ OMIM:609492 ∙ HGNC:9883 ∙ Uniprot:P50749 ∙ 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 RASSF2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASSF2 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			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	0

Variants in RASSF2

This is a list of pathogenic ClinVar variants found in the RASSF2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
20-4784299-T-G		not specified	Uncertain significance (May 26, 2024)
20-4784335-C-T		not specified	Uncertain significance (Aug 26, 2022)
20-4786234-C-T		not specified	Uncertain significance (Dec 07, 2021)
20-4786300-G-A		not specified	Uncertain significance (Nov 17, 2023)
20-4786303-A-T		not specified	Uncertain significance (Sep 16, 2021)
20-4787737-C-A		not specified	Uncertain significance (Mar 21, 2024)
20-4789631-G-A		not specified	Uncertain significance (Jun 07, 2024)
20-4789672-C-A		not specified	Uncertain significance (Aug 17, 2021)
20-4790533-C-T		not specified	Uncertain significance (Dec 20, 2023)
20-4790537-G-A		not specified	Uncertain significance (Dec 06, 2021)
20-4792598-T-C		not specified	Uncertain significance (Feb 10, 2022)
20-4792608-T-A		not specified	Uncertain significance (Sep 30, 2021)
20-4795875-C-T		not specified	Uncertain significance (Sep 20, 2023)
20-4795902-C-T		not specified	Uncertain significance (Jul 14, 2021)
20-4795911-C-T		not specified	Uncertain significance (Oct 20, 2021)
20-4798015-G-C		not specified	Uncertain significance (Jun 21, 2022)
20-4798021-G-A		not specified	Uncertain significance (Jan 29, 2024)
20-4798056-T-C		not specified	Uncertain significance (Jan 26, 2022)
20-4801021-T-C		not specified	Uncertain significance (Jan 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASSF2	protein_coding	protein_coding	ENST00000379400	10	43623

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.06e-7	0.862	125717	0	31	125748	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.900	164	200	0.821	0.0000129	2114
Missense in Polyphen		63	74.055	0.85072		742
Synonymous	0.247	73	75.7	0.964	0.00000445	629
Loss of Function	1.54	13	20.5	0.634	0.00000119	215

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000244	0.000242
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000142	0.000141
Middle Eastern	0.00	0.00
South Asian	0.000327	0.000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potential tumor suppressor. Acts as a KRAS-specific effector protein. May promote apoptosis and cell cycle arrest. Stabilizes STK3/MST2 by protecting it from proteasomal degradation. {ECO:0000269|PubMed:12732644, ECO:0000269|PubMed:16012945, ECO:0000269|PubMed:19525978}.
• Pathway: Hippo signaling pathway - multiple species - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.128

Intolerance Scores

• loftool: 0.875
• rvis_EVS: -0.2
• rvis_percentile_EVS: 38.82

Haploinsufficiency Scores

• pHI: 0.105
• hipred: Y
• hipred_score: 0.598
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.969

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rassf2
• Phenotype: cellular phenotype; endocrine/exocrine gland phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; growth/size/body region phenotype; skeleton phenotype; immune system phenotype; liver/biliary system phenotype

Gene ontology

• Biological process: skeletal system development;ossification;protein phosphorylation;cell cycle;positive regulation of protein autophosphorylation;negative regulation of peptidyl-serine phosphorylation;epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade;positive regulation of apoptotic process;regulation of osteoblast differentiation;regulation of osteoclast differentiation;positive regulation of protein kinase activity;positive regulation of JNK cascade;bone remodeling;homeostasis of number of cells;protein stabilization;negative regulation of NIK/NF-kappaB signaling
• Cellular component: kinetochore;condensed chromosome kinetochore;nucleus;nucleoplasm;cytoplasm;Golgi apparatus;cytosol;plasma membrane;protein-containing complex
• Molecular function: protein kinase activity;protein binding