GPR89A

G protein-coupled receptor 89A, the group of 7TM uncharacterized proteins

Basic information

Region (hg38): 1:145607988-145670650

Links

ENSG00000117262

∙ NCBI:653519 ∙ OMIM:612821 ∙ HGNC:31984 ∙ Uniprot:B7ZAQ6 ∙ 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 GPR89A gene.

not_specified (34 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR89A gene is commonly pathogenic or not. These statistics are base on transcript: NM_001097612.2. 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			34 clinvar			34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR89A	protein_coding	protein_coding	ENST00000313835	14	62693

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.66e-14	0.0167	125643	1	90	125734	0.000362

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.344	130	142	0.919	0.00000723	3002
Missense in Polyphen		27	30.854	0.87508		735
Synonymous	-0.868	57	49.2	1.16	0.00000241	847
Loss of Function	-0.0929	20	19.6	1.02	0.00000122	307

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000525	0.000518
Ashkenazi Jewish	0.00	0.00
East Asian	0.00127	0.00125
Finnish	0.000186	0.000139
European (Non-Finnish)	0.000281	0.000255
Middle Eastern	0.00127	0.00125
South Asian	0.000774	0.000719
Other	0.000400	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Voltage dependent anion channel required for acidification and functions of the Golgi apparatus that may function in counter-ion conductance. {ECO:0000250, ECO:0000269|PubMed:12761501, ECO:0000269|PubMed:18794847}.;

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.380
ghis: 0.529

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Gpr89
Phenotype: pigmentation 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); reproductive system phenotype; immune system phenotype; hearing/vestibular/ear phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype; craniofacial phenotype;

Gene ontology

Biological process: protein transport;inorganic anion transport;ion transmembrane transport;regulation of ion transmembrane transport;positive regulation of I-kappaB kinase/NF-kappaB signaling;intracellular pH reduction
Cellular component: integral component of membrane;Golgi-associated vesicle membrane;Golgi cisterna membrane
Molecular function: voltage-gated anion channel activity