Aliases for HBM Gene
Aliases for HBM Gene
External Ids for HBM Gene
- HGNC: 4826
- Entrez Gene: 3042
- Ensembl: ENSG00000206177
- OMIM: 609639
- UniProtKB: Q6B0K9
Previous HGNC Symbols for HBM Gene
- HBAP2
Previous GeneCards Identifiers for HBM Gene
- GC16U900495
- GC16P000161
- GC16P000163
- GC16P000164
- GC16P000165
- GC16P000174
- GC16P000175
- GC16P000177
- GC16P000179
- GC16P000203
- GC16P000134
- GC16P000154
- GC16P000207
Summaries for HBM Gene
-
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]
GeneCards Summary for HBM Gene
HBM (Hemoglobin Subunit Mu) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBZ.
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBM Gene
Genomics for HBM Gene
GeneHancer (GH) Regulatory Elements for HBM Gene
Promoters and enhancers for HBM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around HBM on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for HBM Gene
Genomic Locations for HBM Gene
- chr16:153,892-166,768
- (GRCh38/hg38)
- Size:
- 12,877 bases
- Orientation:
- Plus strand
- chr16:203,891-216,767
- (GRCh37/hg19)
Genomic View for HBM Gene
Genes around HBM on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p13.3 by Entrez Gene
- 16p13.3 by HGNC
- 16p13.3 by Ensembl
HBM Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HBM Gene
Proteins for HBM Gene
-
Protein details for HBM Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6B0K9-HBM_HUMAN
- Recommended name:
- Hemoglobin subunit mu
- Protein Accession:
- Q6B0K9
Protein attributes for HBM Gene
- Size:
- 141 amino acids
- Molecular mass:
- 15618 Da
- Quaternary structure:
- No Data Available
Protein Expression for HBM Gene
Post-translational modifications for HBM Gene
No Post-translational modifications
Other Protein References for HBM Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- antibodies-online: Search results for available HBM related products ranked by validation data
- Search GeneTex for Antibodies for HBM
Protein Products
-
OriGene Purified Proteins for HBM
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- Novus Biologicals lysates for HBM
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- Search GeneTex for Proteins for HBM
No data available for DME Specific Peptides for HBM Gene
Domains & Families for HBM Gene
Gene Families for HBM Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for HBM Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HBM Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q6B0K9- Family:
-
- Belongs to the globin family.
Function for HBM Gene
Phenotypes From GWAS Catalog for HBM Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005344 | oxygen carrier activity | IEA | -- |
| GO:0005506 | iron ion binding | IEA | -- |
| GO:0019825 | oxygen binding | IEA | -- |
| GO:0020037 | heme binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for HBM Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
CRISPR Products
-
OriGene CRISPR knockouts for HBM
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- Applied Biological Materials CRISPR for HBM
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HBM
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miRNA Products
Inhibitory RNA Products
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBM
- genomics-online: shRNA clones - Search results for available HBM gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for HBM
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HBM
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HBM
- genomics-online: cdna clones - Search results for available HBM gene related products
- orf clones - Search results for available HBM gene related products
- Applied Biological Materials Clones for HBM
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for HBM
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HBM Gene
Localization for HBM Gene
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 4 |
| nucleus | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005833 | hemoglobin complex | IEA | -- |
| GO:0070062 | extracellular exosome | HDA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for HBM Gene
Pathways & Interactions for HBM Gene
No Data Available
Interacting Proteins for HBM Gene
GPS-Prot Interaction Network for HBM
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0015671 | oxygen transport | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for HBM Gene
Drugs & Compounds for HBM Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| heme | Pharma | Agonist | 0 |
Transcripts for HBM Gene
mRNA/cDNA for HBM Gene
- (2898) Selected AceView cDNA sequences:
- (3) Additional mRNA sequences :
- (1) REFSEQ mRNAs :
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000356815 506 bps (uc002cfu.2)
- ENST00000472539 592 bps (uc059ogw.1)
- ENST00000496585 592 bps (uc059ogx.1)
CRISPR Products
-
OriGene CRISPR knockouts for HBM
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HBM
- genomics-online: gRNA clones - Search results for available HBM gene related products
- Applied Biological Materials CRISPR for HBM
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HBM
- GenScript: Design CRISPR guide RNA sequences for HBM
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HBM
- Browse OriGene Inhibitory RNA Products For HBM
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBM
- genomics-online: shRNA clones - Search results for available HBM gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for HBM
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HBM
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HBM
- genomics-online: cdna clones - Search results for available HBM gene related products
- orf clones - Search results for available HBM gene related products
- Applied Biological Materials Clones for HBM
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for HBM Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Adipose (Muscoskeletal System)
- Mesenchymal Stem Cells Subcutaneous White Adipose
-
Mesenchymal Stem Cells
- Mesenchymal Stem Cells Subcutaneous White Adipose
mRNA differential expression in normal tissues according to GTEx for HBM Gene
This gene is overexpressed in Whole Blood (x50.2).
This gene is overexpressed in Fetal Liver (54.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HBM Gene
NURSA nuclear receptor signaling pathways regulating expression of HBM Gene:
HBMSOURCE GeneReport for Unigene cluster for HBM Gene:
Hs.647389mRNA Expression by UniProt/SwissProt for HBM Gene:
Q6B0K9-HBM_HUMAN
Tissue specificity:
Expressed in erythroid tissues.
Evidence on tissue expression from TISSUES for HBM Gene
- Blood(4.2)
- Pancreas(4)
- Bone marrow(2)
Primer Products
-
OriGene qPCR primer pairs and template standards for HBM
-
OriGene qPCR primer pairs for HBM
- genomics-online: primer clones - Search results for available HBM gene related products
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HBM Gene
Orthologs for HBM Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HBM 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | HBM 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | HBM 34 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HBAD 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | HBM 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | HBQ1 34 |
|
OneToMany |
- Species where no ortholog for HBM was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- mouse (Mus musculus)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for HBM Gene
- ENSEMBL:
- Gene Tree for HBM (if available)
- TreeFam:
- Gene Tree for HBM (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HBM: view image
Paralogs for HBM Gene
Variants for HBM Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1001322703 | -- | 165,736(+) | G/T | upstream_transcript_variant | |
| rs1001690336 | -- | 165,535(+) | C/T | upstream_transcript_variant | |
| rs1003634449 | -- | 166,817(+) | G/A | downstream_transcript_variant | |
| rs1005499944 | -- | 165,478(+) | G/A | upstream_transcript_variant | |
| rs1005887848 | -- | 165,784(+) | C/A | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2690n100 | CNV | gain | 25217958 |
| esv2422427 | CNV | duplication | 17116639 |
| esv2662940 | CNV | deletion | 23128226 |
| esv3637547 | CNV | loss | 21293372 |
| nsv1037664 | CNV | gain | 25217958 |
| nsv1044142 | CNV | gain | 25217958 |
| nsv518291 | CNV | loss | 19592680 |
| nsv570938 | CNV | loss | 21841781 |
| nsv827473 | CNV | gain | 20364138 |
Residual Variation Intolerance Score:
85.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.77;
33.54% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HBM Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HBM Gene
Disorders for HBM Gene
Additional Disease Information for HBM
No disorders were found for HBM Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HBM Gene
Publications for HBM Gene
- A newly discovered human alpha-globin gene. (PMID: 15855277) Goh SH … Miller JL (Blood 2005) 2 3 4 58
- A review of the molecular genetics of the human alpha-globin gene cluster. (PMID: 2649166) Higgs DR … Weatherall DJ (Blood 1989) 2 3 58
- Unusual features of CpG-rich (HTF) islands in the human alpha globin complex: association with non-functional pseudogenes and presence within the 3' portion of the zeta gene. (PMID: 2825132) Fischel-Ghodsian N … Higgs DR (Nucleic acids research 1987) 2 3 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
- Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3 58
Products for HBM Gene
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- Browse R&D Systems for biochemical assays
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- OriGene Purified Proteins for HBM
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- OriGene qPCR primer pairs and template standards for HBM
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- Cyagen custom Knockout/knockin (KOKI) mouse models for HBM
- VectorBuilder custom plasmid, inducible vectors for HBM
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HBM
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for available HBM related products ranked by validation data
- antibodies-online: Search results for available HBM related products ranked by validation data
- antibodies-online: Search results for available HBM related products ranked by validation data
- Search GeneTex for Antibodies for HBM
- Search GeneTex for Proteins for HBM
- Horizon Cell Lines for HBM
- genomics-online: cdna clones - Search results for available HBM gene related products
- orf clones - Search results for available HBM gene related products
- genomics-online: gRNA clones - Search results for available HBM gene related products
- genomics-online: primer clones - Search results for available HBM gene related products
- genomics-online: shRNA clones - Search results for available HBM gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HBM
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Sources for HBM Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
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- (125) NCBI Bookshelf
- (126) ClinVar
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- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
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- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio