HBM hemoglobin subunit mu [Homo sapiens (human)] - Gene

Summary

Official Symbol: HBMprovided by HGNC
Official Full Name: hemoglobin subunit muprovided by HGNC
Primary source: HGNC:HGNC:4826
See related: Ensembl:ENSG00000206177 MIM:609639; AllianceGenome:HGNC:4826
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HBK; HBAP2
Summary: The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]
Orthologs: all
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Genomic context

Location:: 16p13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (165978..166764)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (160010..160797)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (215977..216763)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HbM Saskatoon is normally a harmless variant. However, in conjunction with severe pneumonia, we assume that it did not only affect clinical evaluation, but also exacerbated pneumonia by reducing the oxygen binding capacity.
Title: Persistent cyanosis in a 4 month old infant with severe pneumonia and haemoglobin M.
results suggest the human genome encodes a previously unrecognized globin member of the avian alpha-D family that is transcribed in a highly regulated pattern in erythroid cells
Title: A newly discovered human alpha-globin gene.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD10391 (e-PCR)
- UniSTS:291430

ECD15283 (e-PCR)
- UniSTS:296300

ECD03744 (e-PCR)
- UniSTS:284824

REN94938 (e-PCR)
- UniSTS:419736

REN94939 (e-PCR)
- UniSTS:419737

REN94940 (e-PCR)
- UniSTS:419738

REN94941 (e-PCR)
- UniSTS:419739

REN94942 (e-PCR)
- UniSTS:419740

REN94943 (e-PCR)
- UniSTS:419741

REN94944 (e-PCR)
- UniSTS:419742

REN94945 (e-PCR)
- UniSTS:419743

REN94946 (e-PCR)
- UniSTS:419744

stSG608915 (e-PCR)
- UniSTS:448430

ECD12574 (e-PCR)
- UniSTS:293607

ECD03321 (e-PCR)
- UniSTS:284406

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to haptoglobin binding	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxygen binding	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen carrier activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to peroxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in hydrogen peroxide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in oxygen transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of haptoglobin-hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: hemoglobin subunit mu

Names: alpha globin pseudogene 2; hemoglobin mu chain; hemoglobin, alpha pseudogene 2; hemoglobin, mu; mu-globin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.