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 app... See more...

Aliases for IGKV@ Gene

Aliases for IGKV@ Gene

  • Immunoglobulin Kappa Variable Cluster 3
  • Immunoglobulin Kappa Variable Region 3
  • Immunoglobulin Kappa Variable Group 3
  • IGKV1@ 3
  • IGKV2@ 3
  • IGKV3@ 3
  • IGKV1 3
  • IGKV2 3
  • IGKV3 3
  • IGKV 3

External Ids for IGKV@ Gene

Summaries for IGKV@ Gene

Entrez Gene Summary for IGKV@ Gene

  • 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 and joining (J) genes (see MIM 146970). 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]

GeneCards Summary for IGKV@ Gene

IGKV@ (Immunoglobulin Kappa Variable Cluster) is a Gene Cluster. Diseases associated with IGKV@ include Breast Cancer. Among its related pathways are Immune response Lectin induced complement pathway and Immune response NFAT in immune response.

Additional gene information for IGKV@ Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGKV@ Gene

Genomics for IGKV@ Gene

Genomic Locations for IGKV@ Gene

Latest Assembly
chr2:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for IGKV@ Gene


Cytogenetic band:
GeneLoc Logo Gene Density

No data available for GeneHancer (GH) Regulatory Elements and RefSeq DNA sequence for IGKV@ Gene

Proteins for IGKV@ Gene

Post-translational modifications for IGKV@ Gene

No Post-translational modifications

No data available for DME Specific Peptides for IGKV@ Gene

Domains & Families for IGKV@ Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IGKV@ Gene

Function for IGKV@ Gene

Molecular function for IGKV@ Gene

GENATLAS Biochemistry:
immunoglobulin,kappa,variable region (32 genes,25 pseudogenes,16 sequences with minor defects,3 undetermined),in two groups called Lp (proximal) and Ld (distal)

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IGKV@ Gene

Localization for IGKV@ Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for IGKV@ Gene

Pathways & Interactions for IGKV@ Gene

PathCards logo

SuperPathways for IGKV@ Gene

SuperPathway Contained pathways
1 Immune response Fc epsilon RI pathway
.44
.44
2 Immune response Role of DAP12 receptors in NK cells
.32
3 Immune response Lectin induced complement pathway
.55
4 Development IGF-1 receptor signaling
.38
5 Immune response NFAT in immune response
.56
genes like me logo Genes that share pathways with IGKV@: view

Pathways by source for IGKV@ Gene

7 GeneGo (Thomson Reuters) pathways for IGKV@ Gene
  • Immune response BCR pathway
  • Immune response CD16 signaling in NK cells
  • Immune response Classical complement pathway
  • Immune response Fc epsilon RI pathway
  • Immune response IL-4 signaling pathway

Gene Ontology (GO) - Biological Process for IGKV@ Gene

None

No data available for Interacting Proteins and SIGNOR curated interactions for IGKV@ Gene

Drugs & Compounds for IGKV@ Gene

No Compound Related Data Available

Transcripts for IGKV@ Gene

Expression for IGKV@ Gene

SOURCE GeneReport for Unigene cluster for IGKV@ Gene:

Hs.535669
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IGKV@ Gene

Orthologs for IGKV@ Gene

No data available for Orthologs and Evolution for IGKV@ Gene

Paralogs for IGKV@ Gene

No data available for Paralogs for IGKV@ Gene

Variants for IGKV@ Gene

Additional Variant Information for IGKV@ Gene

Human Gene Mutation Database (HGMD)
IGKV@

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , dbSNP identifiers (rs#s) for variants without ClinVar clinical significance , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGKV@ Gene

Disorders for IGKV@ Gene

MalaCards: The human disease database

(1) MalaCards diseases for IGKV@ Gene - From: LNC

Disorder Aliases PubMed IDs
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards
Search IGKV@ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IGKV@

Human Genome Epidemiology Navigator
(HuGE)
genes like me logo Genes that share disorders with IGKV@: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IGKV@ Gene

Publications for IGKV@ Gene

  1. Immunoglobulin light chain variable (V) region genes influence clinical presentation and outcome in light chain-associated amyloidosis (AL). (PMID: 12515719) Abraham RS … Fonseca R (Blood 2003) 3 40
  2. Distribution of human kappa locus IGKV2-29 and IGKV2D-29 alleles in Swedish Caucasians and Hong Kong Chinese. (PMID: 11261927) Padyukov L … Hanson LA (Immunogenetics 2001) 3 40
  3. A Genome-Wide Knockout Screen in Human Macrophages Identified Host Factors Modulating Salmonella Infection. (PMID: 31594818) Yeung ATY … Dougan G (mBio 2019) 3
  4. LncRNAs as new biomarkers to differentiate triple negative breast cancer from non-triple negative breast cancer. (PMID: 26910840) Lv M … Fu Z (Oncotarget 2016) 72
  5. Biased immunoglobulin light chain use in the Chlamydophila psittaci negative ocular adnexal marginal zone lymphomas. (PMID: 23418012) Zhu D … Lossos IS (American journal of hematology 2013) 3

No data available for Mastermind for IGKV@ Gene

Products for IGKV@ Gene

Sources for IGKV@ Gene