HBM

hemoglobin subunit mu, the group of Hemoglobin subunits

Basic information

Region (hg38): 16:153892-166764

Previous symbols: [ "HBAP2" ]

Links

ENSG00000206177 ∙ NCBI:3042 ∙ OMIM:609639 ∙ HGNC:4826 ∙ Uniprot:Q6B0K9 ∙ 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 HBM gene.

• not_specified (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HBM gene is commonly pathogenic or not. These statistics are base on transcript: NM_001003938.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			21			21
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	21	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HBM	protein_coding	protein_coding	ENST00000356815	3	12877

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0123	0.664	120739	316	3940	124995	0.0172

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.371	87	77.8	1.12	0.00000360	890
Missense in Polyphen		23	20.784	1.1066		270
Synonymous	-0.0762	37	36.4	1.02	0.00000187	286
Loss of Function	0.506	3	4.11	0.730	1.77e-7	41

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.129	0.128
Ashkenazi Jewish	0.000207	0.000199
East Asian	0.000965	0.000926
Finnish	0.00681	0.00546
European (Non-Finnish)	0.000857	0.000789
Middle Eastern	0.000965	0.000926
South Asian	0.000574	0.000556
Other	0.0170	0.0160

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.107

Haploinsufficiency Scores

• pHI: 0.167
• hipred: N
• hipred_score: 0.180
• ghis: 0.884

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.124

Gene Damage Prediction

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

Gene ontology

• Biological process: oxygen transport;hydrogen peroxide catabolic process;protein heterooligomerization;cellular oxidant detoxification
• Cellular component: hemoglobin complex;haptoglobin-hemoglobin complex
• Molecular function: peroxidase activity;oxygen carrier activity;protein binding;oxygen binding;heme binding;haptoglobin binding;organic acid binding;metal ion binding