• Gene id: 3109

Gene Summary

• Gene Symbol: HLA-DMB   Gene   UCSC   Ensembl
• Aliases: D6S221E, RING7
• Gene name: major histocompatibility complex, class II, DM beta
• Alternate names: HLA class II histocompatibility antigen, DM beta chain, MHC class II HLA-DMB, MHC class II antigen DMB, MHC class II antigen HLA-DM beta chain, class II histocompatibility antigen, M beta chain, really interesting new gene 7 protein,
• Gene location: 6p21.32 (32941027: 32934635)     Exons: 6     NC_000006.12
• Gene summary(Entrez): HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the
• OMIM: 142856

Protein Summary

• Protein general information: P28068  
  • Name: HLA class II histocompatibility antigen, DM beta chain (MHC class II antigen DMB) (Really interesting new gene 7 protein)
  • Length: 263  
  • Mass: 28943
• Sequence:

  MITFLPLLLGLSLGCTGAGGFVAHVESTCLLDDAGTPKDFTYCISFNKDLLTCWDPEENKMAPCEFGVLNSLANV
  LSQHLNQKDTLMQRLRNGLQNCATHTQPFWGSLTNRTRPPSVQVAKTTPFNTREPVMLACYVWGFYPAEVTITWR
  KNGKLVMPHSSAHKTAQPNGDWTYQTLSHLALTPSYGDTYTCVVEHIGAPEPILRDWTPGLSPMQTLKVSVSAVT
  LGLGLIIFSLGVISWRRAGHSSYTPLPGSNYSEGWHIS

• Structural information:
  • Protein Domains: (114..20-)
    (/note="Ig-like-C1-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003006  IPR003597   IPR011162  IPR014745  IPR000353  
  • Prosite: PS50835 PS00290
  • PDB: 1HDM 2BC4 4FQX 4GBX 4I0P
  • PDBsum: 1HDM 2BC4 4FQX 4GBX 4I0P
  • DIP: 6185
  • STRING: ENSP00000398890
• Other Databases: GeneCards:  HLA-DMB  Malacards:  HLA-DMB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019882	antigen processing and presentation	IEA	biological process
GO:0006955	immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0042613	MHC class II protein complex	IEA	cellular component
GO:0002504	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0042613	MHC class II protein complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0002503	peptide antigen assembly with MHC class II protein complex	IDA	biological process
GO:0002503	peptide antigen assembly with MHC class II protein complex	IDA	biological process
GO:0042613	MHC class II protein complex	IDA	cellular component
GO:0042613	MHC class II protein complex	IDA	cellular component
GO:0042613	MHC class II protein complex	IDA	cellular component
GO:0023026	MHC class II protein complex binding	IDA	molecular function
GO:2001190	positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	IMP	biological process
GO:0042102	positive regulation of T cell proliferation	IMP	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	IMP	biological process
GO:0002399	MHC class II protein complex assembly	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa05166	Human T-cell leukemia virus 1 infection
hsa05169	Epstein-Barr virus infection
hsa05152	Tuberculosis
hsa04145	Phagosome
hsa05164	Influenza A
hsa04514	Cell adhesion molecules
hsa05322	Systemic lupus erythematosus
hsa04659	Th17 cell differentiation
hsa05145	Toxoplasmosis
hsa04658	Th1 and Th2 cell differentiation
hsa05150	Staphylococcus aureus infection
hsa04640	Hematopoietic cell lineage
hsa05323	Rheumatoid arthritis
hsa05140	Leishmaniasis
hsa04612	Antigen processing and presentation
hsa05321	Inflammatory bowel disease
hsa05416	Viral myocarditis
hsa04672	Intestinal immune network for IgA production
hsa05320	Autoimmune thyroid disease
hsa04940	Type I diabetes mellitus
hsa05310	Asthma
hsa05332	Graft-versus-host disease
hsa05330	Allograft rejection

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)