KHDC3L

Homo sapiens

The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]

Dr

Drosophila melanogaster

Drop (Dr) encodes a homeodomain transcription factor involved in patterning of the neuroectoderm and wing disc, specification of myoblasts and neuroblasts, proper development of muscle, neuronal and glial cells, male genital disc, and regulation of glucose metabolism.

RT1-Db2

Rattus norvegicus

Predicted to enable MHC class II protein complex binding activity and peptide antigen binding activity. Predicted to be involved in several processes, including antigen processing and presentation of exogenous peptide antigen via MHC class II; peptide antigen assembly with MHC class II protein complex; and positive regulation of T cell activation. Predicted to be part of MHC class II protein complex. Predicted to be active in late endosome membrane and lysosomal membrane. Human ortholog(s) of this gene implicated in several diseases, including asthma (multiple); autoimmune disease (multiple); bacterial infectious disease (multiple); eye disease (multiple); and sarcoidosis (multiple). Orthologous to several human genes including HLA-DRB1 (major histocompatibility complex, class II, DR beta 1); HLA-DRB3 (major histocompatibility complex, class II, DR beta 3); and HLA-DRB4 (major histocompatibility complex, class II, DR beta 4); INTERACTS WITH 17beta-estradiol; 17beta-estradiol 3-benzoate; acetamide.

RT1-Db1

Rattus norvegicus

Predicted to enable several functions, including MHC class II receptor activity; peptide antigen binding activity; and signaling receptor binding activity. Involved in response to dexamethasone. Predicted to be located in external side of plasma membrane and immunological synapse. Predicted to be part of MHC class II protein complex. Predicted to be active in late endosome membrane and lysosomal membrane. Human ortholog(s) of this gene implicated in several diseases, including asthma (multiple); autoimmune disease (multiple); bacterial infectious disease (multiple); eye disease (multiple); and sarcoidosis (multiple). Orthologous to several human genes including HLA-DRB1 (major histocompatibility complex, class II, DR beta 1); PARTICIPATES IN interleukin-12 signaling pathway; allograft rejection pathway; antigen processing and presentation pathway; INTERACTS WITH 1-naphthyl isothiocyanate; 17beta-estradiol; 17beta-estradiol 3-benzoate.

HLA-DRB4

Homo sapiens

HLA-DRB4 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]

HLA-DRB3

Homo sapiens

HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]

HLA-DRB5

Homo sapiens

HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]

RT1-Da

Rattus norvegicus

Predicted to enable several functions, including MHC class II protein complex binding activity; T cell receptor binding activity; and peptide antigen binding activity. Predicted to be involved in several processes, including antigen processing and presentation of endogenous peptide antigen via MHC class II; antigen processing and presentation of exogenous peptide antigen via MHC class II; and regulation of T cell differentiation. Predicted to act upstream of or within immunoglobulin mediated immune response. Predicted to be located in external side of plasma membrane; immunological synapse; and lysosome. Predicted to be part of MHC class II protein complex. Predicted to be active in late endosome membrane and lysosomal membrane. Biomarker of prediabetes syndrome. Human ortholog(s) of this gene implicated in Parkinson's disease (multiple); allergic disease; asthma; and autoimmune disease (multiple). Orthologous to human HLA-DRA (major histocompatibility complex, class II, DR alpha); PARTICIPATES IN interleukin-12 signaling pathway; allograft rejection pathway; antigen processing and presentation pathway; INTERACTS WITH 1,2,4-trimethylbenzene; 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol.

HLA-DRB1

Homo sapiens

HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]