RBP7

retinol binding protein 7, the group of Fatty acid binding protein family

Basic information

Region (hg38): 1:9997206-10016021

Links

ENSG00000162444 ∙ NCBI:116362 ∙ OMIM:608604 ∙ HGNC:30316 ∙ Uniprot:Q96R05 ∙ 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 RBP7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBP7 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in RBP7

This is a list of pathogenic ClinVar variants found in the RBP7 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-9997295-A-G		not specified	Uncertain significance (Jun 11, 2021)
1-10007587-C-T		not specified	Uncertain significance (Oct 08, 2024)
1-10007588-G-A		not specified	Uncertain significance (Jul 30, 2024)
1-10007665-A-G		not specified	Uncertain significance (Oct 26, 2021)
1-10007693-A-C		not specified	Uncertain significance (Dec 11, 2023)
1-10007738-G-A		not specified	Uncertain significance (Oct 17, 2024)
1-10008175-T-A		not specified	Uncertain significance (Jan 31, 2025)
1-10008201-T-C		not specified	Uncertain significance (Feb 07, 2025)
1-10008243-C-T		not specified	Uncertain significance (Oct 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBP7	protein_coding	protein_coding	ENST00000294435	4	18815

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.541	0.446	124011	0	7	124018	0.0000282

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.08	45	70.4	0.639	0.00000323	906
Missense in Polyphen		12	21.199	0.56608		269
Synonymous	0.222	25	26.5	0.945	0.00000129	222
Loss of Function	1.99	1	6.48	0.154	2.75e-7	78

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)	0.0000444	0.0000444
Middle Eastern	0.00	0.00
South Asian	0.0000397	0.0000337
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Intracellular transport of retinol. {ECO:0000269|PubMed:12177003}.
• Pathway: Vitamin A and Carotenoid Metabolism (Consensus)

Intolerance Scores

• loftool: 0.488
• rvis_EVS: 0.19
• rvis_percentile_EVS: 66.57

Haploinsufficiency Scores

• pHI: 0.0283
• hipred: N
• hipred_score: 0.317
• ghis: 0.409

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• 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: Rbp7
• Phenotype: homeostasis/metabolism phenotype

Zebrafish Information Network

• Gene name: rbp7a
• Affected structure: Kupffer's vesicle
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Cellular component: cytoplasm
• Molecular function: protein binding;retinal binding;retinol binding