Aliases for IGKC Gene

Aliases for IGKC Gene

  • Immunoglobulin Kappa Constant 2 3 4 5
  • HCAK1 2 3
  • Immunoglobulin Kappa (Invariant Region) 3
  • Immunoglobulin Kappa Light Chain (VJ) 3
  • Immunoglobulin Kappa Constant Region 3
  • Ig Kappa Chain C Region CUM 4
  • Ig Kappa Chain C Region ROY 4
  • Ig Kappa Chain C Region AG 4
  • Ig Kappa Chain C Region EU 4
  • Ig Kappa Chain C Region OU 4
  • Ig Kappa Chain C Region TI 4
  • Ig Kappa Chain C Region 4
  • IGKCD 3
  • IGKC 5
  • Km 3

External Ids for IGKC Gene

Previous GeneCards Identifiers for IGKC Gene

  • GC02M088711
  • GC02U900019
  • GC02M089043
  • GC02M089058
  • GC02M089060
  • GC02M088995
  • GC02M089010
  • GC02M088937
  • GC02M089156
  • GC02M088860
  • GC02M088871
  • GC02M088934
  • GC02M088975
  • GC02M088984
  • GC02M089081
  • GC02M088878
  • GC02M088886
  • GC02M088893
  • GC02M088900
  • GC02M088906
  • GC02M088913
  • GC02M088920
  • GC02M088927
  • GC02M089142
  • GC02M089883

Summaries for IGKC Gene

GeneCards Summary for IGKC Gene

IGKC (Immunoglobulin Kappa Constant) is a Protein Coding gene. Diseases associated with IGKC include Immunoglobulin Kappa Light Chain Deficiency and Plasma Cell Tumor. Among its related pathways are Immune response Lectin induced complement pathway and Immune response NFAT in immune response. Gene Ontology (GO) annotations related to this gene include antigen binding. An important paralog of this gene is IGLC3.

UniProtKB/Swiss-Prot Summary for IGKC Gene

  • Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).

Gene Wiki entry for IGKC Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGKC Gene

Genomics for IGKC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IGKC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J088853 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 250.7 -0.1 -126 10.4 POLR2A NFIC TAF1 SPI1 NR2F6 NFIB EGR2 TFDP1 NR2F2 YY1 HSALNG0016724 IGK IGKC IGKV1-13 THNSL2 RPIA IGKV4-1 ANKRD36BP2 EIF2AK3 HSALNG0016725
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGKC on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for IGKC Gene

Latest Assembly
chr2:88,857,161-88,857,683
(GRCh38/hg38)
Size:
523 bases
Orientation:
Minus strand

Previous Assembly
chr2:89,156,874-89,157,196
(GRCh37/hg19 by Entrez Gene)
Size:
323 bases
Orientation:
Minus strand

chr2:89,156,674-89,157,196
(GRCh37/hg19 by Ensembl)
Size:
523 bases
Orientation:
Minus strand

Genomic View for IGKC Gene

Genes around IGKC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGKC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGKC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGKC Gene

Proteins for IGKC Gene

  • Protein details for IGKC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01834-IGKC_HUMAN
    Recommended name:
    Immunoglobulin kappa constant
    Protein Accession:
    P01834
    Secondary Accessions:
    • A0A075B6H6
    • A0A087X130

    Protein attributes for IGKC Gene

    Size:
    107 amino acids
    Molecular mass:
    11765 Da
    Quaternary structure:
    • Immunoglobulins are composed of two identical heavy chains and two identical light chains; disulfide-linked.
    SequenceCaution:
    • Sequence=AAA58989.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IGKC Gene

neXtProt entry for IGKC Gene

Post-translational modifications for IGKC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IGKC Gene

ENSEMBL proteins:

Antibodies for research

No data available for DME Specific Peptides for IGKC Gene

Domains & Families for IGKC Gene

Gene Families for IGKC Gene

Protein Domains for IGKC Gene

InterPro:
Blocks:
  • Immunoglobulin C-type

Suggested Antigen Peptide Sequences for IGKC Gene

GenScript: Design optimal peptide antigens:
  • Ig kappa chain C region (IGKC_HUMAN)
genes like me logo Genes that share domains with IGKC: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IGKC Gene

Function for IGKC Gene

Molecular function for IGKC Gene

UniProtKB/Swiss-Prot Function:
Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).
GENATLAS Biochemistry:
immunoglobulin,kappa,constant chain (Km marker)

Gene Ontology (GO) - Molecular Function for IGKC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding IBA, NAS 5489770
GO:0034987 immunoglobulin receptor binding IBA 21873635
genes like me logo Genes that share ontologies with IGKC: view

Human Phenotype Ontology for IGKC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IGKC Gene

Localization for IGKC Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGKC Gene

Secreted. Cell membrane.

Gene Ontology (GO) - Cellular Components for IGKC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS, NAS --
GO:0005615 extracellular space IBA, HDA 21873635
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IBA 21873635
GO:0019814 immunoglobulin complex IEA --
genes like me logo Genes that share ontologies with IGKC: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for IGKC Gene

Pathways & Interactions for IGKC Gene

PathCards logo

SuperPathways for IGKC 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 IGKC: view

Pathways by source for IGKC Gene

7 GeneGo (Thomson Reuters) pathways for IGKC 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 IGKC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis HEP 23580065
GO:0002377 immunoglobulin production IBA 21873635
GO:0006898 receptor-mediated endocytosis TAS --
GO:0006910 phagocytosis, recognition IBA 21873635
GO:0006911 phagocytosis, engulfment IBA 21873635
genes like me logo Genes that share ontologies with IGKC: view

No data available for SIGNOR curated interactions for IGKC Gene

Drugs & Compounds for IGKC Gene

(19) Drugs for IGKC Gene - From: DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(1S,2S,5S)2-(4-GLUTARIDYLBENZYL)-5-PHENYL-1-CYCLOHEXANOL Experimental Pharma Target 0
(2S)-2-(BUTYRYLOXY)-3-HYDROXYPROPYL NONANOATE Experimental Pharma Target 0
(4Z)-2,8:7,12:11,15:14,18:17,22-PENTAANHYDRO-4,5,6,9,10,13,19,20,21-NONADEOXY-D-ARABINO-D-ALLO-D-ALLO-DOCOSA-4,9,20-TRIENITOL Experimental Pharma Target 0
[4-(4-ACETYLAMINO-PHENYL)-3,5-DIOXO-4-AZA-TRICYCLO[5.2.2.0 2,6]UNDEC-1-YLCARBAMOYLOXY]-ACETIC ACID Experimental Pharma Target 0
3-{[(9-CYANO-9,10-DIHYDRO-10-METHYLACRIDIN-9-YL)CARBONYL]AMINO}PROPANOIC ACID Experimental Pharma Target 0
genes like me logo Genes that share compounds with IGKC: view

Drug products for research

Transcripts for IGKC Gene

mRNA/cDNA for IGKC Gene

28 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for IGKC Gene

No ASD Table

Relevant External Links for IGKC Gene

GeneLoc Exon Structure for
IGKC

Expression for IGKC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IGKC Gene

Protein differential expression in normal tissues from HIPED for IGKC Gene

This gene is overexpressed in Pancreatic juice (8.7) and Urine (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IGKC Gene



Protein tissue co-expression partners for IGKC Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IGKC

SOURCE GeneReport for Unigene cluster for IGKC Gene:

Hs.449609

Phenotype-based relationships between genes and organs from Gene ORGANizer for IGKC Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
Regions:
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with IGKC: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for IGKC Gene

Orthologs for IGKC Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGKC Gene

Organism Taxonomy Gene Similarity Type Details
Mouse
(Mus musculus)
Mammalia Igkc 30
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IGKC 30
  • 55 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IGKC 30
  • 10 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii IGKC 30
  • 24 (a)
OneToOne
Species where no ortholog for IGKC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for IGKC Gene

ENSEMBL:
Gene Tree for IGKC (if available)
TreeFam:
Gene Tree for IGKC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IGKC: view image
Alliance of Genome Resources:
Additional Orthologs for IGKC

Paralogs for IGKC Gene

genes like me logo Genes that share paralogs with IGKC: view

Variants for IGKC Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IGKC Gene

IGKC_HUMAN-P01834
There are several alleles. The sequence shown is that of IMGT allele IGKC*01.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IGKC Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
VAR_066403 Immunoglobulin kappa light chain deficiency (IGKCD) [MIM:614102] p.Trp41Arg
VAR_003897 -- p.Val84Leu

Additional Variant Information for IGKC Gene

Human Gene Mutation Database (HGMD)
IGKC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGKC
Leiden Open Variation Database (LOVD)
IGKC

SNP Genotyping and Copy Number Assays for research

No data available for dbSNP identifiers (rs#s) for variants without ClinVar clinical significance , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGKC Gene

Disorders for IGKC Gene

MalaCards: The human disease database

(8) MalaCards diseases for IGKC Gene - From: OMI, CVR, GTR, ORP, SWI, and GCD

Disorder Aliases PubMed IDs
immunoglobulin kappa light chain deficiency
  • igkcd
plasma cell tumor
light chain deposition disease
  • light-chain deposition disease
plasmacytoma
  • myeloma - solitary
b cell prolymphocytic leukemia
  • leukemia, b cell prolymphocytic
- elite association - COSMIC cancer census association via MalaCards
Search IGKC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IGKC_HUMAN
  • Immunoglobulin kappa light chain deficiency (IGKCD) [MIM:614102]: A disease characterized by the complete absence of immunoglobulin kappa chains. {ECO:0000269 PubMed:3931219}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for IGKC

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IGKC: view

No data available for Genatlas for IGKC Gene

Publications for IGKC Gene

  1. Single nucleotide polymorphism of interleukin-1beta associated with Helicobacter pylori infection in immune thrombocytopenic purpura. (PMID: 19317746) Satoh T … Kuwana M (Tissue antigens 2009) 3 40
  2. Immunoglobulin gene polymorphisms are susceptibility factors in clinical and autoantibody subgroups of the idiopathic inflammatory myopathies. (PMID: 18821675) O'Hanlon TP … Miller FW (Arthritis and rheumatism 2008) 3 40
  3. TNF-alpha, IL1-beta, and immunoglobulin (GM and KM) gene polymorphisms in sarcoidosis. (PMID: 12039524) Pandey JP … ACCESS Research Group. A Case Control Etiologic Study of Sarcoidosis (Human immunology 2002) 3 40
  4. Immunoglobulin kappa light chain gene alleles are not associated with primary Sjögren's syndrome. (PMID: 12215905) Downie-Doyle S … Pile K (Genes and immunity 2002) 3 40
  5. Identification of a novel substitution in the constant region of a gene coding for an amyloidogenic kappa1 light chain. (PMID: 10354514) Wally J … Comenzo RL (Biochimica et biophysica acta 1999) 2 3

Products for IGKC Gene

Sources for IGKC Gene