• Gene id: 11148

Gene Summary

• Gene Symbol: HHLA2   Gene   UCSC   Ensembl
• Aliases: B7-H5, B7-H7, B7H7, B7y
• Gene name: HERV-H LTR-associating 2
• Alternate names: HERV-H LTR-associating protein 2, human endogenous retrovirus-H long terminal repeat-associating protein 2,
• Gene location: 3q13.13 (108296489: 108378284)     Exons: 13     NC_000003.12
• Gene summary(Entrez): This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results i
• OMIM: 604371

Protein Summary

• Protein general information: Q9UM44  
  • Name: HERV H LTR associating protein 2 (Human endogenous retrovirus H long terminal repeat associating protein 2)
  • Length: 414  
  • Mass: 46850
  • Tissue specificity: Expressed at high levels in colon, kidney, testis, lung and pancreas, and at lower levels in small intestine, liver and skeletal muscle. In immune cells, highly expressed in B-cells, dendritic cells and macrophages. Not detected in T-c
• Sequence:

  MKAQTALSFFLILITSLSGSQGIFPLAFFIYVPMNEQIVIGRLDEDIILPSSFERGSEVVIHWKYQDSYKVHSYY
  KGSDHLESQDPRYANRTSLFYNEIQNGNASLFFRRVSLLDEGIYTCYVGTAIQVITNKVVLKVGVFLTPVMKYEK
  RNTNSFLICSVLSVYPRPIITWKMDNTPISENNMEETGSLDSFSINSPLNITGSNSSYECTIENSLLKQTWTGRW
  TMKDGLHKMQSEHVSLSCQPVNDYFSPNQDFKVTWSRMKSGTFSVLAYYLSSSQNTIINESRFSWNKELINQSDF
  SMNLMDLNLSDSGEYLCNISSDEYTLLTIHTVHVEPSQETASHNKGLWILVPSAILAAFLLIWSVKCCRAQLEAR
  RSRHPADGAQQERCCVPPGERCPSAPDNGEENVPLSGKV

• Structural information:
  • Protein Domains: (61..13-)
    1 (/note="Ig-like-V-type)
    (138..22-)
    (/note="Ig-like-C1-type)
    (235..32-)
    2" (/note="Ig-like-V-type)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003597  IPR003599   IPR013106  
  • Prosite: PS50835
  • STRING: ENSP00000350402
• Other Databases: GeneCards:  HHLA2  Malacards:  HHLA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001817	regulation of cytokine production	IBA	biological process
GO:0050776	regulation of immune response	IBA	biological process
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0050852	T cell receptor signaling pathway	IBA	biological process
GO:0031295	T cell costimulation	IDA	biological process
GO:0001819	positive regulation of cytokine production	IDA	biological process
GO:0042104	positive regulation of activated T cell proliferation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
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: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: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:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray