Harmonizome 3.0

aortic aneurysm, familial abdominal 1

Aneurysm, familial abdominal 3

Aortic aneurysm, familial abdominal 2

Aortic aneurysm, familial abdominal, 4

Epilepsy, familial temporal lobe, 6

cardiomyopathy, familial restrictive, 2

Atrial fibrillation, familial, 8

Hyperuricemic nephropathy, familial juvenile, 3

gliosis, familial progressive subcortical

Beukes familial hip dysplasia

Epilepsy, familial adult myoclonic, 4

Epilepsy, familial adult myoclonic, 3

Progressive familial heart block, type II

benign familial infantile convulsions

Progressive familial heart block, type I, locus 1

epilepsy, familial temporal lobe

Hyperaldosteronism, familial, type II

familial cortical myoclonic tremor with epilepsy 2

familial cortical myoclonic tremor with epilepsy 1

Glioma, familial, 1

Pseudohyperkalemia, familial, 2, due to red cell leak

Syncope, familial vasovagal

Convulsions, benign familial infantile, 4

Atrial fibrillation, familial 1

familial atrial fibrillation 2

X inactivation, familial skewed, 2

Benign familial infantile convulsions-2

Epilepsy, familial mesial temporal lobe

Stuttering, familial persistent, 3

Stuttering, familial persistent 2

Stuttering, familial persistent 1

Stuttering, familial persistent, 4

cancer, familial, with in vitro radioresistance

Migraine, familial typical, susceptibility to

Migraine, familial, with or without aura, susceptibility to

Trichoepithelioma, multiple familial, 2

Febrile convulsions, familial, 9

Atrial fibrillation, familial, 5

Hypertriglyceridemia, familial

interstitial pneumonitis, desquamative, familial

Cardiomyopathy, familial hypertrophic, 21

candidiasis, familial 1

antiphospholipid syndrome, familial

eosinophilia, familial

Febrile convulsions, familial, 10

noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2

Thrombocytosis, familial X-linked

myasthenia gravis, familial infantile, 1

vestibulopathy, familial

Aortic aneurysm, familial thoracic 2

Aortic aneurysm, familial thoracic 1

Natural killer cell deficiency, familial isolated

immunoglobulin lambda variable (I)-38 (pseudogene)

immunoglobulin kappa variable 1/OR10-1 (pseudogene)

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

immunoglobulin heavy variable (II)-60-1 (pseudogene)

immunoglobulin heavy variable 1-8

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1-3

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1-2

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 6-25

immunoglobulin heavy variable 4-4

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin kappa variable 1-12

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

immunoglobulin kappa variable 1-16

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

immunoglobulin kappa variable 1-17

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

immunoglobulin superfamily, member 9B

Predicted to enable kinase binding activity. Predicted to be involved in synaptic membrane adhesion. Predicted to act upstream of or within homophilic cell adhesion via plasma membrane adhesion molecules and positive regulation of inhibitory postsynaptic potential. Predicted to be located in dendrite; inhibitory synapse; and neuronal cell body. Predicted to be active in GABA-ergic synapse; neuron projection; and postsynaptic specialization of symmetric synapse. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 5-78 (pseudogene)

immunoglobulin lambda variable 1-36

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

leukocyte immunoglobulin-like receptor subfamily B member 3

immunoglobulin kappa variable 2-36 (pseudogene)

immunoglobulin kappa variable 2-30

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

immunoglobulin kappa variable 2-38 (pseudogene)

immunoglobulin heavy variable (III)-26-1 (pseudogene)

immunoglobulin heavy variable 1-69-2

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1-45

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin kappa deleting element or like

recombination signal binding protein for immunoglobulin kappa J region-like

This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

immunoglobulin heavy variable 1-38-4 (non-functional)

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

killer cell immunoglobulin-like receptor 3DL1

immunoglobulin kappa variable 2/OR2-8 (pseudogene)

immunoglobulin (CD79A) binding protein 1

The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. [provided by RefSeq, Jul 2008]

immunoglobulin superfamily, member 10

Predicted to be involved in regulation of neuron migration. Predicted to act upstream of or within ossification. Located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

killer cell immunoglobulin-like receptor, three domains, X1

Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin kappa variable 2D-14 (pseudogene)

immunoglobulin kappa variable 2D-10 (pseudogene)

immunoglobulin kappa variable 2D-18 (pseudogene)

immunoglobulin kappa variable 2D-19 (pseudogene)

immunoglobulin superfamily, member 3 pseudogene

immunoglobulin heavy constant epsilon P2 (pseudogene)

immunoglobulin heavy constant epsilon P1 (pseudogene)

immunoglobulin lambda-like polypeptide 1

The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

immunoglobulin lambda-like polypeptide 5

This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

immunoglobulin heavy diversity 3/OR15-3B (non-functional)

immunoglobulin heavy diversity 3/OR15-3A (non-functional)

immunoglobulin heavy variable 3/OR16-7 (pseudogene)

immunoglobulin heavy variable 3-69-1 (pseudogene)

immunoglobulin lambda variable 5-45

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

immunoglobulin lambda variable 5-48 (non-functional)

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

leukocyte immunoglobulin-like receptor subfamily B member 3

immunoglobulin superfamily member 3-like

immunoglobulin heavy variable (II)-22-1 (pseudogene)

immunoglobulin kappa variable 3-11

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

immunoglobulin kappa variable 3-15

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

immunoglobulin superfamily, member 8

This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

immunoglobulin superfamily, member 9

Predicted to enable cell-cell adhesion mediator activity. Predicted to be involved in axon guidance; dendrite self-avoidance; and homophilic cell adhesion via plasma membrane adhesion molecules. Predicted to act upstream of or within dendrite development and regulation of synapse organization. Predicted to be located in dendrite and inhibitory synapse. Predicted to be active in axon; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin superfamily, member 5

Predicted to enable PDZ domain binding activity. Predicted to be involved in cell-cell adhesion. Predicted to be located in apical plasma membrane. Predicted to be active in bicellular tight junction and cell surface. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin superfamily, member 6

Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in cell surface receptor signaling pathway and immune response. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin superfamily, member 1

This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

immunoglobulin superfamily, member 3

The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]

immunoglobulin superfamily, DCC subclass, member 3 pseudogene

immunoglobulin heavy variable 3-37 (pseudogene)

immunoglobulin heavy variable 3-36 (pseudogene)

immunoglobulin heavy variable 3-35 (non-functional)

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-33

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-32 (pseudogene)

immunoglobulin heavy variable 3-30

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 heavy variable 3-38 (non-functional)

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin kappa variable 1-13 (gene/pseudogene)

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

immunoglobulin kappa variable 3-7 (non-functional)

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

immunoglobulin heavy diversity 6-19

immunoglobulin heavy diversity 6-13

immunoglobulin heavy joining 6

immunoglobulin heavy joining 5

immunoglobulin heavy joining 4

immunoglobulin heavy joining 3

immunoglobulin heavy joining 2

immunoglobulin heavy joining 1

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

immunoglobulin-like domain containing receptor 2

Involved in negative regulation of T cell activation. Predicted to be located in tight junction. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin-like domain containing receptor 1

This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

immunoglobulin lambda variable 8-61

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

recombination signal binding protein for immunoglobulin kappa J region pseudogene

immunoglobulin lambda variable 2-28 (pseudogene)

immunoglobulin lambda variable 2-23

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

region containing immunoglobulin superfamily, member 6 and DREV1

immunoglobulin superfamily containing leucine-rich repeat

Predicted to be involved in cell adhesion. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1-12 (pseudogene)

immunoglobulin heavy variable 1-14 (pseudogene)

immunoglobulin lambda-like polypeptide 4, pseudogene

immunoglobulin heavy variable 3/OR16-13 (non-functional)

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin A (IgA) deficiency susceptibility 1

osteoclast associated, immunoglobulin-like receptor

Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex protein family that plays critical roles in the regulation of both innate and adaptive immune responses. The encoded protein may play a role in oxidative stress-mediated atherogenesis as well as monocyte adhesion. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

immunoglobulin heavy variable 7-34-1 (pseudogene)

immunoglobulin heavy variable 3-30-2 (pseudogene)

immunoglobulin heavy variable 3-30-3

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-30-5

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda variable (IV)-53 (pseudogene)

immunoglobulin lambda variable (IV)-59 (pseudogene)

immunoglobulin lambda variable (IV)/OR22-2 (pseudogene)

immunoglobulin lambda variable (IV)/OR22-1 (pseudogene)

immunoglobulin heavy variable 4-38-2

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 2-2

immunoglobulin heavy diversity 2-8

immunoglobulin kappa variable 2D-29

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

immunoglobulin kappa variable 2D-28

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

immunoglobulin kappa variable 2D-24 (non-functional)

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

immunoglobulin kappa variable 2D-26

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

immunoglobulin kappa variable 2D-23 (pseudogene)

immunoglobulin kappa variable 1D-8

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

immunoglobulin lambda variable 7-35 (pseudogene)

immunoglobulin heavy variable (II)-49-1 (pseudogene)

immunoglobulin heavy diversity 3-9

immunoglobulin heavy diversity 3-3

IGHD3-3 belongs to a cluster of approximately 25 functional diversity (D) genes in the immunoglobulin (Ig) heavy chain locus on chromosome 14. For background information on the Ig heavy chain and the D gene cluster, see (MIM 146910).[supplied by OMIM, Apr 2008]

single immunoglobulin and toll-interleukin 1 receptor (TIR) domain

Involved in negative regulation of Toll signaling pathway. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

killer cell immunoglobulin-like receptor 2DL2

immunoglobulin heavy variable 1/OR15-2 (pseudogene)

immunoglobulin heavy variable 1/OR15-3 (pseudogene)

immunoglobulin heavy variable 1/OR15-1 (non-functional)

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1/OR15-6 (pseudogene)

immunoglobulin heavy variable 1/OR15-4 (pseudogene)

immunoglobulin heavy variable 1/OR15-9 (non-functional)

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy joining 1P (pseudogene)

leukocyte-associated immunoglobulin-like receptor 1

The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

leukocyte-associated immunoglobulin-like receptor 2

The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to leukocyte-associated immunoglobulin-like receptor 1, a membrane-bound receptor that modulates innate immune response. The protein encoded by this locus is a soluble receptor that may play roles in both inhibition of collagen-induced platelet aggregation and vessel formation during placental implantation. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]

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 heavy variable (II)-30-1 (pseudogene)

immunoglobulin heavy variable 2-70

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin kappa variable 1/OR2-9 (pseudogene)

immunoglobulin kappa variable 1D-22 (pseudogene)

immunoglobulin kappa variable 1D-27 (pseudogene)

immunoglobulin lambda constant/OR22-1 (pseudogene)

immunoglobulin lambda constant/OR22-2 (pseudogene)

immunoglobulin heavy variable 3-48

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-49

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-47 (pseudogene)

immunoglobulin heavy variable 3-42 (pseudogene)

immunoglobulin heavy variable 3-43

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-41 (pseudogene)

immunoglobulin lambda variable (I)-56 (pseudogene)

immunoglobulin heavy variable (II)-26-2 (pseudogene)

immunoglobulin kappa variable 2/OR2-10 (pseudogene)

killer cell immunoglobulin-like receptor 2DS1

immunoglobulin kappa variable 1/ORY-1 (pseudogene)

immunoglobulin heavy variable 3-43D

immunoglobulin heavy variable (III)-44 (pseudogene)

immunoglobulin heavy variable 3-11 (gene/pseudogene)

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda variable 10-54

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

immunoglobulin heavy variable (II)-31-1 (pseudogene)

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

killer cell immunoglobulin-like receptor, three domains, pseudogene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 pseudogene

immunoglobulin lambda variable 1-51

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

immunoglobulin lambda variable 1-50 (non-functional)

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

immunoglobulin heavy variable 7-40 (pseudogene)

immunoglobulin J polypeptide pseudogene 1

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2

The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1

This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]

killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]

killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]

immunoglobulin heavy diversity 3-22

leukocyte immunoglobulin-like receptor pseudogene 1

leukocyte immunoglobulin-like receptor pseudogene 2

immunoglobulin lambda variable 7-46 (gene/pseudogene)

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

immunoglobulin lambda variable 7-43

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

immunoglobulin heavy variable (II)-44-2 (pseudogene)

immunoglobulin heavy variable (III)-2-1 (pseudogene)

immunoglobulin heavy variable (III)-16-1 (pseudogene)

immunoglobulin heavy variable 2-70D

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1-67 (pseudogene)

immunoglobulin heavy variable 1-68 (pseudogene)

immunoglobulin heavy variable 1-69

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 4-39

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 4-31

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

leukocyte immunoglobulin-like receptor subfamily B member 3

immunoglobulin heavy joining 3P (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 (CD79A) binding protein 1 pseudogene 1

immunoglobulin (CD79A) binding protein 1 pseudogene 2

Predicted to enable protein phosphatase 2A binding activity. Predicted to be involved in regulation of dephosphorylation. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin (CD79A) binding protein 1 pseudogene 3

immunoglobulin (CD79A) binding protein 1 pseudogene 4

immunoglobulin (CD79A) binding protein 1 pseudogene 5

immunoglobulin lambda joining-constant/OR18 (pseudogene)

immunoglobulin heavy diversity 1-14 (non-functional)

immunoglobulin heavy variable 2-26

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane and immunoglobulin domain containing 3

This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]

transmembrane and immunoglobulin domain containing 2

Enables coreceptor activity. Involved in positive regulation of T cell activation; positive regulation of angiogenesis; and positive regulation of cytokine production. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

killer cell immunoglobulin-like receptor 2DS3 allele 0020101

immunoglobulin kappa variable 1/OR15-118 (pseudogene)

immunoglobulin heavy diversity 4-17

immunoglobulin heavy diversity 4-11 (non-functional)

immunoglobulin heavy diversity 2/OR15-2B (non-functional)

immunoglobulin heavy diversity 2/OR15-2A (non-functional)

immunoglobulin kappa variable 3D-7

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

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

immunoglobulin kappa variable 6D-41 (non-functional)

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

immunoglobulin heavy variable 4/OR15-8 (non-functional)

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin mu binding protein 2

This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]

immunoglobulin lambda variable 3-32 (non-functional)

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

immunoglobulin lambda variable 3-31 (pseudogene)

immunoglobulin lambda variable 3-30 (pseudogene)

immunoglobulin superfamily, member 11

IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005]

V-set and immunoglobulin domain containing 10 like

Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda variable 10-67 (pseudogene)

immunoglobulin kappa variable 2-4 (pseudogene)

immunoglobulin kappa variable 3-34 (pseudogene)

immunoglobulin kappa variable 3-31 (pseudogene)

immunoglobulin kappa variable 3/OR2-5 (pseudogene)

immunoglobulin heavy variable 3-19 (pseudogene)

immunoglobulin heavy variable 3-15

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-16 (non-functional)

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-13

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

immunoglobulin lambda variable (I)-20 (pseudogene)

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

immunoglobulin heavy variable (II)-43-1 (pseudogene)

immunoglobulin superfamily, DCC subclass, member 3

Predicted to be involved in cell-cell adhesion. Predicted to act upstream of or within neuromuscular process controlling balance. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin superfamily, DCC subclass, member 4

Predicted to be involved in cell-cell adhesion. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

leucine-rich repeats and immunoglobulin-like domains 3

Predicted to act upstream of or within otolith morphogenesis. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

leucine-rich repeats and immunoglobulin-like domains 2

This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

leucine-rich repeats and immunoglobulin-like domains 1

Predicted to act upstream of or within several processes, including innervation; otolith morphogenesis; and sensory perception of sound. Predicted to be located in plasma membrane. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 4-55 (pseudogene)

immunoglobulin kappa light chain variable region

immunoglobulin kappa variable 1-27

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

immunoglobulin kappa variable 1-22 (pseudogene)

immunoglobulin heavy variable (IV)-44-1 (pseudogene)

immunoglobulin superfamily DCC subclass member 3-like

immunoglobulin heavy variable 4-34

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin kappa variable 2-23 (pseudogene)

immunoglobulin kappa variable 2-26 (pseudogene)

immunoglobulin kappa variable 2-28

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

immunoglobulin kappa variable 2-29 (gene/pseudogene)

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

immunoglobulin kappa joining 1

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

immunoglobulin kappa joining 3

immunoglobulin kappa joining 5

immunoglobulin kappa joining cluster

Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains (see MIM 147100) and 2 identical light chains, either kappa or lambda (see MIM 147220), joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. The kappa and lambda light chains have no apparent functional differences. Each Ig kappa light chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by a C region gene (IGKC; MIM 147200), that provides signaling functions. The kappa light chain V region is encoded by 2 types of genes: V genes (see MIM 146980) and joining (J) genes. Random selection of just 1 gene of each type to assemble a V region accounts for the great diversity of V regions among Ig molecules. The kappa light chain locus on chromosome 2 contains approximately 40 functional V genes, followed by approximately 5 functional J genes. Due to polymorphism, the numbers of functional V and J genes differ among individuals (Janeway et al., 2005).[supplied by OMIM, Apr 2008]

immunoglobulin heavy variable (III)-47-1 (pseudogene)

immunoglobulin heavy diversity 4/OR15-4B (non-functional)

immunoglobulin heavy diversity 2-21

immunoglobulin heavy variable (II)-40-1 (pseudogene)

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 lambda variable (VI)-25-1 (pseudogene)

immunoglobulin heavy diversity 1-20

immunoglobulin heavy diversity 1-26

immunoglobulin heavy variable 6-1

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin kappa variable 1/OR-3 (pseudogene)

immunoglobulin kappa variable 1/OR-2 (pseudogene)

immunoglobulin kappa variable 1/OR-4 (pseudogene)

immunoglobulin lambda variable (VII)-41-1 (pseudogene)

immunoglobulin heavy variable (II)-65-1 (pseudogene)

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 diversity 6-6

immunoglobulin superfamily containing leucine-rich repeat 2

Predicted to be involved in positive regulation of axon extension. Predicted to be located in plasma membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin kappa variable 2/OR22-3 (pseudogene)

immunoglobulin kappa variable 2/OR22-4 (pseudogene)

immunoglobulin heavy variable (II)-53-1 (pseudogene)

immunoglobulin-like and fibronectin type III domain containing 1

Predicted to be located in Z disc and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda variable cluster

Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains (see MIM 147100) and 2 identical light chains, either kappa (see MIM 147200) or lambda, joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. The kappa and lambda light chains have no apparent functional differences. Each Ig lambda light chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by a C region gene (IGLC1; MIM 147220), that provides signaling functions. The lambda light chain V region is encoded by 2 types of genes: V genes and joining (J) genes (see MIM 147230). Random selection of just 1 gene of each type to assemble a V region accounts for the great diversity of V regions among Ig molecules. The lambda light chain locus on chromosome 22 contains approximately 30 functional V genes, followed by approximately 4 functional J genes. Due to polymorphism, the numbers of functional V and J genes differ among individuals (Janeway et al., 2005).[supplied by OMIM, Apr 2008]

immunoglobulin heavy variable 4-61

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable (II)-62-1 (pseudogene)

immunoglobulin heavy variable (II)-20-1 (pseudogene)

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]

V-set and immunoglobulin domain-containing protein 10-like

Predicted to enable cell adhesion molecule binding activity. Predicted to be involved in cell-cell adhesion. Predicted to be located in membrane. Predicted to be active in cell-cell junction and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable (II)-28-1 (pseudogene)

immunoglobulin lambda variable 5-37

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

immunoglobulin lambda variable 5-39

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

immunoglobulin heavy variable 3/OR16-12 (non-functional)

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3/OR16-11 (pseudogene)

immunoglobulin heavy variable 3/OR16-10 (non-functional)

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3/OR16-16 (pseudogene)

immunoglobulin heavy variable 3/OR16-15 (pseudogene)

tyrosine kinase with immunoglobulin-like and EGF-like domains 1

This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

immunoglobulin kappa variable 2-24

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

basic, immunoglobulin-like variable motif containing

Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda variable 4-60

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

immunoglobulin lambda variable 4-69

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

immunoglobulin kappa joining 2

immunoglobulin kappa joining 4

immunoglobulin heavy variable 3-25 (pseudogene)

immunoglobulin heavy variable 3-20

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-21

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-22 (pseudogene)

immunoglobulin heavy variable 3-23

IGHV3-23 belongs to a cluster of approximately 40 functional variable (V) genes in the immunoglobulin (Ig) heavy chain locus on chromosome 14. For background information on the Ig heavy chain and the V gene cluster, see (MIM 147070).[supplied by OMIM, Apr 2008]

immunoglobulin lambda variable (I)-70 (pseudogene)

immunoglobulin heavy variable 3-29 (pseudogene)

immunoglobulin heavy variable 7-27 (pseudogene)

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 variable 3/OR15-7 (pseudogene)

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy chain variable region

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin E concentration, serum

immunoglobulin kappa variable 3D-20

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

immunoglobulin kappa variable 3D-25 (pseudogene)

immunoglobulin heavy variable (II)-15-1 (pseudogene)

immunoglobulin lambda variable (VI)-22-1 (pseudogene)

killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

immunoglobulin heavy variable (III)-25-1 (pseudogene)

immunoglobulin lambda variable 2-34 (pseudogene)

immunoglobulin lambda variable 2-33 (non-functional)

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

immunoglobulin (CD79A) binding protein 1 pseudogene

immunoglobulin heavy diversity 4/OR15-4A (non-functional)

immunoglobulin heavy variable (III)-67-4 (pseudogene)

immunoglobulin heavy variable (III)-67-2 (pseudogene)

immunoglobulin heavy variable (III)-67-3 (pseudogene)

immunoglobulin kappa variable 1/OR2-3 (pseudogene)

immunoglobulin kappa variable 1/OR2-0 (non-functional)

immunoglobulin kappa variable 1/OR2-1 (pseudogene)

immunoglobulin kappa variable 1/OR2-6 (pseudogene)

immunoglobulin lambda variable 6-57

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

leukocyte immunoglobulin-like receptor subfamily B member 3

immunoglobulin lambda light chain-like

immunoglobulin heavy variable 3/OR16-9 (non-functional)

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

immunoglobulin heavy variable 3/OR16-8 (non-functional)

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 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]

immunoglobulin heavy variable 1/OR15-5 (non-functional)

immunoglobulin heavy variable 2-5

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin lambda-like polypeptide 3, pseudogene

immunoglobulin heavy variable 4-59

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 immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin kappa variable 1/OR22-1 (pseudogene)