RESP18

regulated endocrine specific protein 18

Basic information

Region (hg38): 2:219327407-219333177

Links

ENSG00000182698 ∙ NCBI:389075 ∙ OMIM:612721 ∙ HGNC:33762 ∙ Uniprot:Q5W5W9 ∙ 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 RESP18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RESP18 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			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in RESP18

This is a list of pathogenic ClinVar variants found in the RESP18 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-219328926-A-G		not specified	Uncertain significance (Jan 10, 2022)
2-219329179-A-G		not specified	Uncertain significance (Nov 08, 2024)
2-219329197-T-C		not specified	Uncertain significance (Jun 16, 2024)
2-219329212-G-A		not specified	Uncertain significance (Apr 20, 2024)
2-219329237-C-G		not specified	Uncertain significance (Dec 27, 2022)
2-219329238-C-G		not specified	Uncertain significance (Jul 20, 2021)
2-219329698-A-G		not specified	Uncertain significance (Mar 27, 2023)
2-219329707-G-C		not specified	Uncertain significance (Sep 20, 2023)
2-219329746-T-C		not specified	Uncertain significance (Aug 12, 2021)
2-219330782-A-G		not specified	Uncertain significance (Jul 25, 2023)
2-219330810-G-T		not specified	Uncertain significance (Oct 28, 2023)
2-219330870-G-T		not specified	Uncertain significance (Dec 08, 2024)
2-219330875-T-C		not specified	Uncertain significance (Jul 13, 2022)
2-219332556-C-T		not specified	Uncertain significance (Apr 20, 2023)
2-219332614-A-T		not specified	Uncertain significance (Jul 13, 2021)
2-219332625-T-C		not specified	Uncertain significance (Nov 21, 2022)
2-219332647-G-A		not specified	Uncertain significance (Feb 01, 2025)
2-219332683-C-T		not specified	Uncertain significance (Jan 23, 2025)
2-219332701-G-A		not specified	Uncertain significance (Mar 04, 2024)
2-219332730-A-C		not specified	Uncertain significance (Mar 01, 2023)
2-219332733-C-T		not specified	Uncertain significance (Apr 20, 2023)
2-219332734-C-T		not specified	Likely benign (Aug 04, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RESP18	protein_coding	protein_coding	ENST00000333527	7	5769

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.72e-10	0.0447	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.134	117	121	0.966	0.00000571	1472
Missense in Polyphen		18	21.33	0.84388		303
Synonymous	0.209	48	49.9	0.962	0.00000256	439
Loss of Function	-0.438	13	11.4	1.14	4.87e-7	130

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
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: May play an important regulatory role in corticotrophs. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 1.55
• rvis_percentile_EVS: 95.59

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0000981

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Resp18
• Phenotype: growth/size/body region phenotype; homeostasis/metabolism 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)

Gene ontology

• Cellular component: endoplasmic reticulum;Golgi apparatus;cytoplasmic vesicle