RETNLB

resistin like beta

Basic information

Region (hg38): 3:108743424-108757410

Links

ENSG00000163515 ∙ NCBI:84666 ∙ OMIM:605645 ∙ HGNC:20388 ∙ Uniprot:Q9BQ08 ∙ 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 RETNLB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RETNLB 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			13	1		14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	1	0

Variants in RETNLB

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

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

Position	Type	Phenotype	Significance	ClinVar
3-108755806-G-A		not specified	Uncertain significance (Nov 09, 2023)
3-108755812-T-A		not specified	Uncertain significance (Jan 21, 2025)
3-108755830-C-A		not specified	Uncertain significance (Jun 22, 2024)
3-108755863-G-A		not specified	Uncertain significance (Nov 09, 2024)
3-108755875-T-C		not specified	Uncertain significance (Jul 19, 2023)
3-108756527-T-A		not specified	Uncertain significance (Jan 26, 2022)
3-108756538-T-G		not specified	Uncertain significance (Aug 21, 2023)
3-108756546-C-G		not specified	Uncertain significance (Jan 23, 2025)
3-108756560-C-A		not specified	Uncertain significance (Mar 15, 2024)
3-108756587-C-G		not specified	Uncertain significance (Dec 11, 2024)
3-108757063-A-T		not specified	Likely benign (Dec 25, 2024)
3-108757098-C-A		not specified	Uncertain significance (Nov 25, 2024)
3-108757115-T-C		not specified	Uncertain significance (Feb 06, 2024)
3-108757118-G-A		not specified	Uncertain significance (Sep 28, 2022)
3-108757148-G-A		not specified	Likely benign (Jan 23, 2023)
3-108757175-G-A		not specified	Uncertain significance (Sep 21, 2023)
3-108757179-G-A		not specified	Uncertain significance (Jul 09, 2021)
3-108757179-G-T		not specified	Uncertain significance (May 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RETNLB	protein_coding	protein_coding	ENST00000295755	3	13961

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0427	0.677	125038	0	2	125040	0.00000800

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.254	68	62.4	1.09	0.00000322	716
Missense in Polyphen		21	21.012	0.99943		246
Synonymous	-0.237	29	27.4	1.06	0.00000175	220
Loss of Function	0.525	2	2.98	0.672	1.25e-7	38

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable hormone.
• Pathway: IL4-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.143

Intolerance Scores

• loftool: 0.646
• rvis_EVS: 0.37
• rvis_percentile_EVS: 74.95

Haploinsufficiency Scores

• pHI: 0.0446
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Retnla
• Phenotype: hematopoietic system phenotype; immune system phenotype; digestive/alimentary phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: cell population proliferation;regulation of signaling receptor activity
• Cellular component: cellular_component;extracellular space
• Molecular function: molecular_function;hormone activity