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
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. 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
Regulatory Elements for HBM Gene
Enhancers for HBM Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HBM on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HBM gene promoter:
Regulatory Element Products
Genomic Location for HBM Gene
- Chromosome:
- 16
- Start:
- 153,892 bp from pter
- End:
- 166,768 bp from pter
- Size:
- 12,877 bases
- Orientation:
- Plus strand
Genomic View for HBM Gene
Genes around HBM on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p13.3 by Ensembl
- 16p13.3 by Entrez Gene
- 16p13.3 by HGNC
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:
Protein Products
-
OriGene Purified Proteins for HBM
- Search Origene for MassSpec and Protein Over-expression Lysates for HBM
- Origene Custom Protein Services for HBM
- Novus Biologicals lysates for HBM
-
Cloud-Clone Corp. Proteins for HBM
- 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
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005344 | oxygen transporter 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
- Cyagen custom Knockout/knockin (KOKI) mouse models for HBM
-
-
ViGene Biosciences lentiviral particle packaged cDNA for HBM gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HBM gene
- Search ViGene Biosciences for HBM
CRISPR Products
-
OriGene CRISPR knockouts for HBM
-
Santa Cruz Biotechnology (SCBT) CRISPR for HBM
- GenScript: Design CRISPR guide RNA sequences for HBM
miRNA Products
- Search ViGene Biosciences for HBM
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HBM
- Browse OriGene Inhibitory RNA Products For HBM
-
ViGene Biosciences ready-to-package AAV shRNAs for HBM gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- 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
Cell Line Products
-
Horizon Cell Lines for HBM
-
ViGene Biosciences adenoviral particle packaged cDNA for HBM gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HBM gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HBM gene
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 | IDA | 23376485 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for HBM Gene
Pathways & Interactions for HBM Gene
No Data Available
Interacting Proteins for HBM Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| 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
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (2898) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for HBM
-
Santa Cruz Biotechnology (SCBT) CRISPR for HBM
- GenScript: Design CRISPR guide RNA sequences for HBM
miRNA Products
- Search ViGene Biosciences for HBM
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HBM
- Browse OriGene Inhibitory RNA Products For HBM
-
ViGene Biosciences ready-to-package AAV shRNAs for HBM gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- 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
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, PaxDb, 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
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 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HBM 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HBM 34 35 |
|
||
| chicken (Gallus gallus) |
Aves | HBAD 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | HBM 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | HBQ1 35 |
|
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)
Paralogs for HBM Gene
Variants for HBM Gene
| SNP ID | Clin | Chr 16 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1001322703 | -- | 165,736(+) | TACCC(G/T)AGGGG | upstream-variant-2KB | |
| rs1001690336 | -- | 165,535(+) | CACTT(C/T)ACTAA | upstream-variant-2KB | |
| rs1003634449 | -- | 166,817(+) | CTATT(A/G)TTGGC | downstream-variant-500B | |
| rs1005499944 | -- | 165,478(+) | CTTGA(A/G)TCGGA | upstream-variant-2KB | |
| rs1005887848 | -- | 165,784(+) | CCACG(A/C)GCAAC | upstream-variant-2KB |
| 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)
Relevant External Links for HBM Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HBM Gene
Disorders for HBM Gene
Relevant External Links for HBM
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- 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 S.-H. … Miller J.L. (Blood 2005) 2 3 4 64
- A review of the molecular genetics of the human alpha-globin gene cluster. (PMID: 2649166) Higgs D.R. … Weatherall D.J. (Blood 1989) 2 3 64
- 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 D.R. (Nucleic Acids Res. 1987) 2 3 64
- Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3 64
- Persistent cyanosis in a 4 month old infant with severe pneumonia and haemoglobin M. (PMID: 19199228) HA1tten M. … Heimann K. (Klin Padiatr 2009) 3 64
Products for HBM Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
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- Browse Immunoprecipitation Assays
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- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HBM
- Search Origene for MassSpec and Protein Over-expression Lysates for HBM
- Origene Custom Protein Services for HBM
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HBM
- Browse OriGene Inhibitory RNA Products For HBM
- OriGene qPCR primer pairs and template standards for HBM
- OriGene qPCR primer pairs for HBM
- OriGene CRISPR knockouts for HBM
- OriGene ORF clones in human for HBM
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HBM
- GenScript: Next-day shipping cDNA ORF clone for HBM in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HBM
- GenScript Custom Assay Services for HBM
- GenScript Custom overexpressing Cell Line Services for HBM
- GenScript: Design CRISPR guide RNA sequences for HBM
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for HBM
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals lysates for HBM
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cloud-Clone Corp. Antibodies for HBM
- Cloud-Clone Corp. Proteins for HBM
- Browse Assay Kits at Cloud-Clone Corp.
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Search GeneTex for Antibodies for HBM
- Search GeneTex for Proteins for HBM
- ViGene Biosciences adenoviral particle packaged cDNA for HBM gene
- ViGene Biosciences lentiviral particle packaged cDNA for HBM gene
- ViGene Biosciences ready-to-package AAV shRNAs for HBM gene
- Search ViGene Biosciences for HBM
- Horizon Cell Lines for HBM
- 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
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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer