GPR135

G protein-coupled receptor 135, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 14:59429021-59465380

Links

ENSG00000181619 ∙ NCBI:64582 ∙ OMIM:607970 ∙ HGNC:19991 ∙ Uniprot:Q8IZ08 ∙ 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 GPR135 gene.

• Inborn genetic diseases (27 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR135 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			27			27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	0	0

Variants in GPR135

This is a list of pathogenic ClinVar variants found in the GPR135 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-59463767-G-T		not specified	Uncertain significance (Jul 05, 2023)
14-59463782-G-A		not specified	Uncertain significance (Apr 04, 2023)
14-59463819-A-G		not specified	Uncertain significance (Aug 17, 2021)
14-59463909-C-T		not specified	Uncertain significance (May 03, 2023)
14-59463927-A-T		not specified	Uncertain significance (May 25, 2022)
14-59464071-T-C		not specified	Uncertain significance (Oct 25, 2022)
14-59464073-A-G		not specified	Uncertain significance (Nov 08, 2021)
14-59464110-C-T		not specified	Uncertain significance (Sep 22, 2022)
14-59464157-C-T		not specified	Uncertain significance (May 30, 2022)
14-59464191-G-C		not specified	Uncertain significance (Dec 15, 2023)
14-59464199-C-A		not specified	Uncertain significance (Sep 28, 2022)
14-59464215-C-T		not specified	Uncertain significance (Jan 20, 2023)
14-59464286-A-G		not specified	Uncertain significance (Jun 24, 2022)
14-59464287-C-T		not specified	Uncertain significance (May 13, 2022)
14-59464314-G-T		not specified	Uncertain significance (Jan 17, 2024)
14-59464320-T-A		not specified	Uncertain significance (Mar 14, 2024)
14-59464346-C-T		not specified	Uncertain significance (Apr 28, 2022)
14-59464428-A-G		not specified	Uncertain significance (Jan 23, 2024)
14-59464445-C-A		not specified	Uncertain significance (Oct 04, 2022)
14-59464485-C-G		not specified	Likely benign (Jan 23, 2024)
14-59464499-G-A		not specified	Uncertain significance (Mar 29, 2022)
14-59464554-G-C		not specified	Uncertain significance (Oct 02, 2023)
14-59464580-G-A		not specified	Uncertain significance (May 03, 2023)
14-59464652-G-A		not specified	Uncertain significance (Jul 12, 2023)
14-59464707-C-G		not specified	Uncertain significance (Jun 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR135	protein_coding	protein_coding	ENST00000395116	1	36321

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000649	0.498	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.235	275	264	1.04	0.0000150	2978
Missense in Polyphen		103	87.859	1.1723		966
Synonymous	0.192	121	124	0.978	0.00000702	1156
Loss of Function	0.475	7	8.49	0.824	4.33e-7	81

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: Orphan receptor. Has spontaneous activity for beta- arrestin recruitment (PubMed:28827538). Shows a reciprocal regulatory interaction with the melatonin receptor MTNR1B most likely through receptor heteromerization (PubMed:28827538). {ECO:0000269|PubMed:28827538}.
• Pathway: GPCRs, Other (Consensus)

Haploinsufficiency Scores

• pHI: 0.0507
• hipred: N
• hipred_score: 0.314
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.383

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr135

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway
• Cellular component: endosome;plasma membrane;endosome membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;protein binding;arrestin family protein binding