HBZ

hemoglobin subunit zeta, the group of Hemoglobin subunits

Basic information

Region (hg38): 16:142728-154503

Links

ENSG00000130656 ∙ NCBI:3050 ∙ OMIM:142310 ∙ HGNC:4835 ∙ Uniprot:P02008 ∙ 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 HBZ gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HBZ 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				1		1
missense			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	1	0

Variants in HBZ

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

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

Position	Type	Phenotype	Significance	ClinVar
16-152968-C-T		not specified	Uncertain significance (Dec 03, 2021)
16-152993-G-T		not specified	Uncertain significance (Oct 12, 2024)
16-153995-G-A		not specified	Uncertain significance (Apr 13, 2022)
16-154029-G-A		not specified	Uncertain significance (Feb 28, 2024)
16-154065-A-T		not specified	Uncertain significance (Jan 18, 2025)
16-154280-C-T			Likely benign (Aug 01, 2022)
16-154386-G-C		not specified	Uncertain significance (Jun 25, 2024)
16-154395-C-A		not specified	Uncertain significance (Nov 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HBZ	protein_coding	protein_coding	ENST00000252951	3	1817

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0206	0.533	125094	0	4	125098	0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.249	33	37.3	0.885	0.00000194	903
Missense in Polyphen		9	9.7512	0.92296		319
Synonymous	-1.31	26	18.8	1.38	0.00000121	307
Loss of Function	-0.240	2	1.67	1.20	7.10e-8	46

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000617	0.0000617
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000178	0.0000177
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin.

Haploinsufficiency Scores

• pHI: 0.342
• hipred: N
• hipred_score: 0.430
• ghis: 0.761

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.541

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hba-x
• Phenotype: hematopoietic system 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; growth/size/body region phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;oxygen transport;hydrogen peroxide catabolic process;erythrocyte maturation;protein heterooligomerization;cellular oxidant detoxification
• Cellular component: hemoglobin complex;haptoglobin-hemoglobin complex;extracellular exosome
• Molecular function: peroxidase activity;oxygen carrier activity;iron ion binding;protein binding;oxygen binding;heme binding;haptoglobin binding;organic acid binding