Harmonizome 3.0

benign familial infantile convulsions

Nystagmus 5, infantile periodic alternating

ceroid-lipofuscinosis, neuronal 6, late infantile, variant

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]

Convulsions, benign familial infantile, 4

polycystic kidney disease, infantile severe, with tuberous sclerosis

Benign familial infantile convulsions-2

Infantile myoclonic epilepsy

glaucoma 3, primary infantile, B

Pyloric stenosis, infantile hypertrophic, 2

myasthenia gravis, familial infantile, 1

Pyloric stenosis, infantile hypertrophic, 5

Pyloric stenosis, infantile hypertrophic, 4

Pyloric stenosis, infantile hypertrophic, 3

protocadherin alpha constant

The genomic organization of the human protocadherin alpha, beta, and gamma gene clusters (PCDHA@, PCDHB@ and PCDHG@) is remarkably similar to that of immunoglobulin and T-cell receptor genes. The extracellular and transmembrane domains of each protocadherin protein are encoded by an unusually large `variable` region exon, while the intracellular domains are encoded by three small `constant` region exons located downstream from a tandem array of variable region exons. This locus represents the three exons comprising the constant region of the protocadherin alpha gene cluster. [provided by RefSeq, Jul 2008]

T cell receptor beta constant 1

Predicted to be involved in T cell receptor signaling pathway; adaptive immune response; and alpha-beta T cell activation. Predicted to be located in membrane. Predicted to be part of alpha-beta T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor beta constant 2

Predicted to be involved in T cell receptor signaling pathway; adaptive immune response; and alpha-beta T cell activation. Part of alpha-beta T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant epsilon P2 (pseudogene)

immunoglobulin heavy constant epsilon P1 (pseudogene)

immunoglobulin heavy constant gamma 4 (G4m marker)

Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in antibacterial humoral response and complement activation, classical pathway. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant gamma 1 (G1m marker)

Enables Fc-gamma receptor I complex binding activity. Involved in antibody-dependent cellular cytotoxicity and complement-dependent cytotoxicity. Located in extracellular space. Part of IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant gamma 2 (G2m marker)

Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in antibacterial humoral response and complement activation, classical pathway. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant gamma 3 (G3m marker)

Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in antibacterial humoral response and complement activation, classical pathway. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant gamma P (non-functional)

immunoglobulin lambda constant/OR22-1 (pseudogene)

immunoglobulin lambda constant/OR22-2 (pseudogene)

immunoglobulin kappa constant

Predicted to enable antigen binding activity. Involved in adaptive immune response. Located in blood microparticle and extracellular exosome. Part of IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda joining-constant/OR18 (pseudogene)

T cell receptor gamma constant 1

Enables small molecule binding activity. Predicted to be involved in T cell receptor signaling pathway; adaptive immune response; and gamma-delta T cell activation. Predicted to act upstream of or within homeostasis of number of cells within a tissue. Predicted to be located in membrane. Predicted to be part of gamma-delta T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor gamma constant 2

Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in T cell receptor signaling pathway and adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of gamma-delta T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant delta

Predicted to enable antigen binding activity. Involved in positive regulation of interleukin-1 production. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant epsilon

Enables immunoglobulin receptor binding activity. Involved in several processes, including B cell mediated immunity; Fc receptor-mediated immune complex endocytosis; and leukocyte degranulation. Located in extracellular space and plasma membrane. Part of IgE B cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant alpha 2 (A2m marker)

Contributes to immunoglobulin receptor binding activity. Involved in glomerular filtration and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant alpha 1

Contributes to immunoglobulin receptor binding activity. Involved in glomerular filtration and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda constant 4 (pseudogene)

immunoglobulin lambda constant 5 (pseudogene)

immunoglobulin lambda constant 6 (Kern+Oz- marker, gene/pseudogene)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda constant 7

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda constant 1 (Mcg marker)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda constant 2 (Kern-Oz- marker)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda constant 3 (Kern-Oz+ marker)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in blood microparticle and extracellular exosome. Part of IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant mu

Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see MIM 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by an individual C region gene, that determines the isotype of the antibody and provides effector or signaling functions. The heavy chain V region is encoded by 1 each of 3 types of genes: V genes (see MIM 147070), joining (J) genes (see MIM 147010), and diversity (D) genes (see MIM 146910). The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. The IGHM gene encodes the C region of the mu heavy chain, which defines the IgM isotype. Naive B cells express the transmembrane forms of IgM and IgD (see IGHD; MIM 1471770) on their surface. During an antibody response, activated B cells can switch to the expression of individual downstream heavy chain C region genes by a process of somatic recombination known as isotype switching. In addition, secreted Ig forms that act as antibodies can be produced by alternative RNA processing of the heavy chain C region sequences. Although the membrane forms of all Ig isotypes are monomeric, secreted IgM forms pentamers, and occasionally hexamers, in plasma (summary by Janeway et al., 2005).[supplied by OMIM, Aug 2010]

T cell receptor delta constant

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T cell receptor alpha constant

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

protocadherin gamma constant

The genomic organization of the human protocadherin alpha, beta, and gamma gene clusters (PCDHA@, PCDHB@ and PCDHG@) is remarkably similar to that of immunoglobulin and T-cell receptor genes. The extracellular and transmembrane domains of each protocadherin protein are encoded by an unusually large `variable` region exon, while the intracellular domains are encoded by three small `constant` region exons located downstream from a tandem array of variable region exons. This locus represents the three exons comprising the constant region of the protocadherin gamma gene cluster. [provided by RefSeq, Jul 2008]