• Gene id: 972

Gene Summary

• Gene Symbol: CD74   Gene   UCSC   Ensembl
• Aliases: DHLAG, HLADG, II, Ia-GAMMA, p33
• Gene name: CD74 molecule
• Alternate names: HLA class II histocompatibility antigen gamma chain, CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated), CD74 molecule, major histocompatibility complex, class II invariant chain, HLA-DR antigens-associated ,
• Gene location: 5q33.1 (150412935: 150400040)     Exons: 9     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage mig
• OMIM: 142790

SNPs

rs786204822

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.49016546C>A
NC_000019.10   g.49016546C>G
NC_000019.9   g.49519803C>A
NC_000019.9   g.49519803C>G
NG_033041.1   g.27648C>A
NG_033041.1   g.27648C>G
NG_011464.1   g.5545G>T
NG_011464.1   g.5545G>C|SEQ=[C/A/G]|GENE=LHB

rs700519

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.51215771G>A
NC_000015.9   g.51507968G>A
NG_007982.1   g.127828C>T
NM_000103.4   c.790C>T
NM_000103.3   c.790C>T
NM_031226.3   c.790C>T
NM_031226.2   c.790C>T
NM_001347255.2   c.790C>T
NM_001347255.1   c.790C>T
NM_001347256.2   c.790C>T
NM_001347256.1   c.

rs34349826

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.49016626A>G
NC_000019.9   g.49519883A>G
NG_033041.1   g.27728A>G
NG_011464.1   g.5465T>C
NM_000894.3   c.104T>C
NM_000894.2   c.104T>C
NP_000885.1   p.Ile35Thr|SEQ=[A/G]|GENE=LHB

rs6521

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.49016616G>A
NC_000019.10   g.49016616G>C
NC_000019.10   g.49016616G>T
NC_000019.9   g.49519873G>A
NC_000019.9   g.49519873G>C
NC_000019.9   g.49519873G>T
NG_033041.1   g.27718G>A
NG_033041.1   g.27718G>C
NG_033041.1   g.27718G>T
NG_011464.1   g.5475C>T
  

Protein Summary

• Protein general information: P04233  
  • Name: HLA class II histocompatibility antigen gamma chain (HLA DR antigens associated invariant chain) (Ia antigen associated invariant chain) (Ii) (p33) (CD antigen CD74) [Cleaved into: Class II associated invariant chain peptide (CLIP)]
  • Length: 296  
  • Mass: 33516
• Sequence:

  MHRRRSRSCREDQKPVMDDQRDLISNNEQLPMLGRRPGAPESKCSRGALYTGFSILVTLLLAGQATTAYFLYQQQ
  GRLDKLTVTSQNLQLENLRMKLPKPPKPVSKMRMATPLLMQALPMGALPQGPMQNATKYGNMTEDHVMHLLQNAD
  PLKVYPPLKGSFPENLRHLKNTMETIDWKVFESWMHHWLLFEMSRHSLEQKPTDAPPKVLTKCQEEVSHIPAVHP
  GSFRPKCDENGNYLPLQCYGSIGYCWCVFPNGTEVPNTRSRGHHNCSESLELEDPSSGLGVTKQDLGPVPM

• Structural information:
  • Protein Domains: (210..27-)
    (/note="Thyroglobulin-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00500"-)
  • Interpro: IPR015386  IPR022339  IPR011988  IPR036613  IPR000716   IPR036857  
  • Prosite: PS00484 PS51162
  • CDD: cd00191
  • PDB: 1A6A 1ICF 1IIE 1L3H 1MUJ 3PDO 3PGC 3PGD 3QXA 3QXD 4AEN 4AH2 4X5W 5KSU 5KSV
  • PDBsum: 1A6A 1ICF 1IIE 1L3H 1MUJ 3PDO 3PGC 3PGD 3QXA 3QXD 4AEN 4AH2 4X5W 5KSU 5KSV
  • STRING: ENSP00000009530
• Other Databases: GeneCards:  CD74  Malacards:  CD74

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:2000448	positive regulation of macrophage migration inhibitory factor signaling pathway	IMP	biological process
GO:0045080	positive regulation of chemokine biosynthetic process	IMP	biological process
GO:0045416	positive regulation of interleukin-8 biosynthetic process	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0045410	positive regulation of interleukin-6 biosynthetic process	IMP	biological process
GO:0031394	positive regulation of prostaglandin biosynthetic process	IMP	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0002286	T cell activation involved in immune response	IBA	biological process
GO:0019882	antigen processing and presentation	IBA	biological process
GO:0033674	positive regulation of kinase activity	IBA	biological process
GO:0035718	macrophage migration inhibitory factor binding	IBA	molecular function
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IBA	biological process
GO:0001961	positive regulation of cytokine-mediated signaling pathway	IBA	biological process
GO:0002830	positive regulation of type 2 immune response	IBA	biological process
GO:0004896	cytokine receptor activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0009986	cell surface	IBA	cellular component
GO:0042289	MHC class II protein binding	IBA	molecular function
GO:0042613	MHC class II protein complex	IBA	colocalizes with
GO:0043518	negative regulation of DNA damage response, signal transduction by p53 class mediator	IBA	biological process
GO:0060907	positive regulation of macrophage cytokine production	IBA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IBA	biological process
GO:1902166	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IBA	biological process
GO:0019882	antigen processing and presentation	IEA	biological process
GO:0035718	macrophage migration inhibitory factor binding	IEA	molecular function
GO:0006886	intracellular protein transport	IEA	biological process
GO:0006955	immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042289	MHC class II protein binding	IEA	molecular function
GO:0070206	protein trimerization	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0030658	transport vesicle membrane	TAS	cellular component
GO:0030658	transport vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0050900	leukocyte migration	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000187	activation of MAPK activity	IEA	biological process
GO:2000343	positive regulation of chemokine (C-X-C motif) ligand 2 production	IEA	biological process
GO:0051085	chaperone cofactor-dependent protein refolding	IEA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0045582	positive regulation of T cell differentiation	IEA	biological process
GO:0045581	negative regulation of T cell differentiation	IEA	biological process
GO:0045059	positive thymic T cell selection	IEA	biological process
GO:0035693	NOS2-CD74 complex	IEA	cellular component
GO:0035692	macrophage migration inhibitory factor receptor complex	IEA	cellular component
GO:0019955	cytokine binding	IEA	molecular function
GO:0019882	antigen processing and presentation	IEA	biological process
GO:0006952	defense response	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005771	multivesicular body	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0002606	positive regulation of dendritic cell antigen processing and presentation	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:1902166	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA	biological process
GO:0090023	positive regulation of neutrophil chemotaxis	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0065003	protein-containing complex assembly	IEA	biological process
GO:0060907	positive regulation of macrophage cytokine production	IEA	biological process
GO:0050998	nitric-oxide synthase binding	IEA	molecular function
GO:0045060	negative thymic T cell selection	IEA	biological process
GO:0043518	negative regulation of DNA damage response, signal transduction by p53 class mediator	IEA	biological process
GO:0042613	MHC class II protein complex	IEA	cellular component
GO:0042289	MHC class II protein binding	IEA	molecular function
GO:0035691	macrophage migration inhibitory factor signaling pathway	IEA	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	IEA	biological process
GO:0016064	immunoglobulin mediated immune response	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0006886	intracellular protein transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0004896	cytokine receptor activity	IEA	molecular function
GO:0002906	negative regulation of mature B cell apoptotic process	IEA	biological process
GO:0002830	positive regulation of type 2 immune response	IEA	biological process
GO:0001961	positive regulation of cytokine-mediated signaling pathway	IEA	biological process
GO:0019955	cytokine binding	IPI	molecular function
GO:0035718	macrophage migration inhibitory factor binding	IPI	molecular function
GO:0004896	cytokine receptor activity	IDA	molecular function
GO:0001540	amyloid-beta binding	IPI	molecular function
GO:0042289	MHC class II protein binding	ISS	molecular function
GO:0002792	negative regulation of peptide secretion	IDA	biological process
GO:0005773	vacuole	IDA	cellular component
GO:0035692	macrophage migration inhibitory factor receptor complex	IDA	cellular component
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:2000343	positive regulation of chemokine (C-X-C motif) ligand 2 production	ISS	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0043518	negative regulation of DNA damage response, signal transduction by p53 class mediator	IDA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0001961	positive regulation of cytokine-mediated signaling pathway	IMP	biological process
GO:0030890	positive regulation of B cell proliferation	IMP	biological process
GO:0042613	MHC class II protein complex	ISS	colocalizes with
GO:0048146	positive regulation of fibroblast proliferation	IMP	biological process
GO:0060907	positive regulation of macrophage cytokine production	ISS	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0090023	positive regulation of neutrophil chemotaxis	ISS	biological process
GO:1902166	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0045657	positive regulation of monocyte differentiation	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0042609	CD4 receptor binding	IPI	molecular function
GO:0033674	positive regulation of kinase activity	IDA	biological process
GO:0046598	positive regulation of viral entry into host cell	IDA	biological process
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0044183	protein folding chaperone	IDA	molecular function
GO:0042658	MHC class II protein binding, via antigen binding groove	IDA	molecular function
GO:0023026	MHC class II protein complex binding	IDA	molecular function
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0001516	prostaglandin biosynthetic process	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0043030	regulation of macrophage activation	NAS	biological process
GO:0016064	immunoglobulin mediated immune response	ISS	biological process
GO:0065003	protein-containing complex assembly	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0045058	T cell selection	NAS	biological process
GO:0042802	identical protein binding	TAS	molecular function
GO:0042289	MHC class II protein binding	NAS	molecular function
GO:0019883	antigen processing and presentation of endogenous antigen	NAS	biological process
GO:0006886	intracellular protein transport	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa05152	Tuberculosis
hsa04612	Antigen processing and presentation

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)