RENBP

protein-coding

renin binding protein

Gene summary

The gene product inhibits renin activity by forming a dimer with renin, a complex known as high molecular weight renin. The encoded protein contains a leucine zipper domain, which is essential for its dimerization with renin. The gene product can catalyze the interconversion of N-acetylglucosamine to N-acetylmannosamine, indicating that it is a GlcNAc 2-epimerase. Transcript variants utilizing alternative promoters have been described in the literature. [provided by RefSeq, Jul 2008]

MANE transcript

NM_002910.6

Inheritance

—

ClinVar variants

U:135B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.21

Max pathogenic AF

—

Genomic locus

chrX:153,935,269-153,944,687

External References & Databases

Ensembl (ENSG00000102032)

Transcript & Mutation Effects

hg38 • Region Span ~9.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RENBP variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 43

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002910.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			15 clinvar	2 clinvar		17
missense			88 clinvar	4 clinvar	1 clinvar	93
nonsense			12 clinvar			12
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			20 clinvar			20
Total	0	0	135	6	1	142

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002910.6	RefSeq	NP_002901.2	11	MANE Select
ENST00000393700.8	Ensembl	ENSP00000377303.3	11	MANE Select
ENST00000369997.7	Ensembl	ENSP00000359014.3	11	Standard
ENST00000369997.8	Ensembl	ENSP00000359014.3	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Amino sugar and nucleotide sugar metabolism - Homo sapiens (human)
Sialuria or French Type Sialuria
Sialuria or French Type Sialuria
Amino Sugar Metabolism
G(M2)-Gangliosidosis: Variant B, Tay-sachs disease

Biological Process

N-acetylglucosamine metabolic process
UDP-N-acetylglucosamine biosynthetic process
N-acetylmannosamine metabolic process
regulation of blood pressure
negative regulation of endopeptidase activity

Molecular Function

endopeptidase inhibitor activity
ATP binding
peptidase inhibitor activity
protein homodimerization activity
N-acylglucosamine 2-epimerase activity

Cellular Component

cytosol
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000393700
Coding exons: 11
Length: 9517
Individuals with no LoFs: 125425
Homozygous LoFs: 3
Heterozygous LoFs: 2
Defined: 125430
p: 0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.791	160	191	0.839	0.0000167	2754
Missense (PolyPhen)		36	67.571	0.53277		1064
Synonymous	-0.910	87	76.8	1.13	0.00000674	833
Loss of Function	3.14	4	18.6	0.215	0.00000133	265

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000037	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000029	0.000018	rare
South Asian	0.000055	0.000033	rare
Other	0.00022	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Catalyzes the interconversion of N-acetylglucosamine to N-acetylmannosamine. Binds to renin forming a protein complex called high molecular weight (HMW) renin and inhibits renin activity. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. {ECO:0000269|PubMed:9990133}.;

Recessive Scores

pRec: 0.186

Intolerance Scores

RVIS EVS: 1
RVIS percentile EVS: 90.62

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.984

Gene Damage Prediction

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