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.

not_specified (42 variants)

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. These statistics are base on transcript: NM_000014737.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			42 clinvar			42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	0	0

Loading clinvar variants...

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