RELL2

RELT like 2, the group of RELT family

Basic information

Region (hg38): 5:141636949-141641064

Previous symbols: [ "C5orf16" ]

Links

ENSG00000164620 ∙ NCBI:285613 ∙ OMIM:611213 ∙ HGNC:26902 ∙ Uniprot:Q8NC24 ∙ 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 RELL2 gene.

• Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RELL2 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in RELL2

This is a list of pathogenic ClinVar variants found in the RELL2 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-141638244-G-A		not specified	Uncertain significance (Mar 02, 2023)
5-141638385-C-T		not specified	Uncertain significance (Jul 20, 2022)
5-141638800-G-C		not specified	Uncertain significance (Feb 28, 2023)
5-141638827-G-A		not specified	Uncertain significance (Dec 21, 2022)
5-141638840-G-A		not specified	Uncertain significance (Nov 06, 2023)
5-141639480-A-G		not specified	Uncertain significance (Sep 29, 2022)
5-141639532-C-T		not specified	Uncertain significance (Dec 20, 2023)
5-141639580-G-A		not specified	Uncertain significance (Jun 24, 2022)
5-141639596-G-T		not specified	Uncertain significance (May 23, 2023)
5-141640005-G-T		not specified	Uncertain significance (Aug 13, 2021)
5-141640020-G-A		not specified	Uncertain significance (Dec 17, 2023)
5-141640087-C-A		not specified	Uncertain significance (Sep 13, 2023)
5-141640107-G-A		not specified	Uncertain significance (Nov 08, 2022)
5-141640146-G-A		not specified	Uncertain significance (Nov 08, 2021)
5-141640191-T-C		not specified	Uncertain significance (Jan 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RELL2	protein_coding	protein_coding	ENST00000297164	6	4128

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0841	0.907	125728	0	15	125743	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.264	178	188	0.946	0.0000105	1965
Missense in Polyphen		49	66.517	0.73665		716
Synonymous	0.109	68	69.2	0.983	0.00000351	639
Loss of Function	2.28	4	12.8	0.312	6.46e-7	132

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000120
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000178	0.0000176
Middle Eastern	0.0000547	0.0000544
South Asian	0.000294	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Induces activation of MAPK14/p38 cascade, when overexpressed (PubMed:28688764). Induces apoptosis, when overexpressed (PubMed:19969290). {ECO:0000269|PubMed:19969290, ECO:0000269|PubMed:28688764}.

Recessive Scores

• pRec: 0.0872

Intolerance Scores

• loftool: 0.591
• rvis_EVS: 0.2
• rvis_percentile_EVS: 67.19

Haploinsufficiency Scores

• pHI: 0.0942
• hipred: N
• hipred_score: 0.423
• ghis: 0.590

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.104

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rell2

Gene ontology

• Biological process: positive regulation of cell-substrate adhesion;positive regulation of p38MAPK cascade
• Cellular component: basement membrane;plasma membrane;integral component of membrane
• Molecular function: protein binding;collagen binding