HPX

protein-coding

hemopexin

Gene summary

This gene encodes a plasma glycoprotein that binds heme with high affinity. The encoded protein is an acute phase protein that transports heme from the plasma to the liver and may be involved in protecting cells from oxidative stress. [provided by RefSeq, Apr 2009]

MANE transcript

NM_000613.3

Inheritance

—

ClinVar variants

U:78B:17

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr11:6,431,049-6,442,617

External References & Databases

Ensembl (ENSG00000110169)

Transcript & Mutation Effects

hg38 • Region Span ~11.6 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 HPX variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 77

not providedTotal: 12

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_000613.3. 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			2 clinvar		5 clinvar	7
missense			73 clinvar	7 clinvar	5 clinvar	85
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	78	7	10	95

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 85 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_000613.3	RefSeq	NP_000604.1	10	MANE Select
ENST00000265983.8	Ensembl	ENSP00000265983.3	10	MANE Select
ENST00000868745.1	Ensembl	ENSP00000538804.1	8	Standard
ENST00000868746.1	Ensembl	ENSP00000538805.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Vesicle-mediated transport
Scavenging of heme from plasma
Binding and Uptake of Ligands by Scavenger Receptors

Biological Process

positive regulation of immunoglobulin production
positive regulation of humoral immune response mediated by circulating immunoglobulin
proteolysis
cellular iron ion homeostasis
receptor-mediated endocytosis

Molecular Function

protein binding
heme transporter activity
metal ion binding

Cellular Component

extracellular region
extracellular space
collagen-containing extracellular matrix
extracellular exosome
endocytic vesicle lumen

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000265983
Coding exons: 10
Length: 11569
Individuals with no LoFs: 125665
Homozygous LoFs: 0
Heterozygous LoFs: 81
Defined: 125746
p: 0.000322

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.818	235	273	0.861	0.0000161	3001
Missense (PolyPhen)		69	81.629	0.84528		933
Synonymous	-0.862	113	102	1.11	0.00000562	906
Loss of Function	1.05	20	25.8	0.777	0.00000129	272

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00062	0.00062	rare
Latino/Admixed American	0.00058	0.00058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.000094	0.000092	rare
European (Non-Finnish)	0.00032	0.00032	rare
South Asian	0.00030	0.00029	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds heme and transports it to the liver for breakdown and iron recovery, after which the free hemopexin returns to the circulation.;

Recessive Scores

pRec: 0.543

Intolerance Scores

LoFtool: 0.786
RVIS EVS: 0.11
RVIS percentile EVS: 62.1

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.410

Gene Damage Prediction

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