IGKC immunoglobulin kappa constant [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGKCprovided by HGNC
Official Full Name: immunoglobulin kappa constantprovided by HGNC
Primary source: HGNC:HGNC:5716
See related: Ensembl:ENSG00000211592 IMGT/GENE-DB:IGKC; MIM:147200; AllianceGenome:HGNC:5716
Gene type: other
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Km; HCAK1; IGKCD
Summary: Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Involved in retina homeostasis. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Annotation category: partial on reference assembly
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Genomic context

Location:: 2p11.2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (88857361..88857683, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (88866370..88866692, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (89156874..89157196, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prognostic Impact of CD38- and IgkappaC-Positive Tumor-Infiltrating Plasma Cells in Triple-Negative Breast Cancer.
Title: Prognostic Impact of CD38- and IgκC-Positive Tumor-Infiltrating Plasma Cells in Triple-Negative Breast Cancer.
Metachronous and clonally related classic Hodgkin lymphoma and nodular lymphocyte predominant Hodgkin lymphoma.
Title: Metachronous and clonally related classic Hodgkin lymphoma and nodular lymphocyte predominant Hodgkin lymphoma.
A rare case of selective Igkappa chain deficiency: Biologic and clinical implications.
Title: A rare case of selective Igκ chain deficiency: Biologic and clinical implications.
Prognostic value of kappa free light chains determination in first-ever multiple sclerosis relapse.
Title: Prognostic value of kappa free light chains determination in first-ever multiple sclerosis relapse.
Data suggest that immunoglobulin kappa light (IGkappaC) may be a high-risk factor for the initiation and progression of breast cancer.
Title: Stromal immunoglobulin κC expression is associated with initiation of breast cancer in TA2 mice and human breast cancer.
genetic polymorphism is associated with immunobiology of breast cancer in Japan
Title: IGKC and FcγR genotypes and humoral immunity to HER2 in breast cancer.
Data indicate the involvement of immunoglobulin allotypes immunoglobulin gamma and kappa chains in immunity to a cancer-testis antigen, which has important implications for XAGE-1b-based immunotherapeutic interventions in lung adenocarcinoma.
Title: Genetic variants of immunoglobulin γ and κ chains influence humoral immunity to the cancer-testis antigen XAGE-1b (GAGED2a) in patients with non-small cell lung cancer.
IGKC gene and protein expression in human non-small cell lung cancer is associated with prognosis.IGKC is expressed in stroma-infiltrating plasma cells.
Title: The prognostic relevance of tumour-infiltrating plasma cells and immunoglobulin kappa C indicates an important role of the humoral immune response in non-small cell lung cancer.
A humanized rat strain carries a chimeric human/rat IgH locus together with fully human IgL loci (variable kappas linked to Jkappa-Ckappa and Vlambdas linked to Jlambda-Clambda).
Title: High-affinity IgG antibodies develop naturally in Ig-knockout rats carrying germline human IgH/Igκ/Igλ loci bearing the rat CH region.
Expression of IGKC has an independent protective impact on DFS and OS in node-negative breast cancer
Title: Immunoglobulin kappa C predicts overall survival in node-negative breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Recurrent infections associated with rare immunoglobulin isotypes deficiency MedGen: C3279824 OMIM: 614102 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2846 (e-PCR)
- UniSTS:37133

PMC133732P6 (e-PCR)
- UniSTS:270646

GDB:181248 (e-PCR)
- UniSTS:155216

GDB:179398 (e-PCR)
- UniSTS:155045

RH70349 (e-PCR)
- UniSTS:71104

GDB:196845 (e-PCR)
- UniSTS:155887

GDB:196846 (e-PCR)
- UniSTS:155888

GDB:196847 (e-PCR)
- UniSTS:155889

SHGC-106094 (e-PCR)
- UniSTS:173818

Other Names

immunoglobulin kappa (invariant region)
immunoglobulin kappa constant region
immunoglobulin kappa light chain (VJ)

Clone Names

MGC62011, MGC72072, MGC88770, MGC88771, MGC88809, MGC111575

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antigen binding	IBA Inferred from Biological aspect of Ancestor more info
enables antigen binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in adaptive immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in adaptive immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in immunoglobulin mediated immune response	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of IgA immunoglobulin complex	NAS Non-traceable Author Statement more info	PubMed
part_of IgD immunoglobulin complex	NAS Non-traceable Author Statement more info	PubMed
part_of IgE immunoglobulin complex	NAS Non-traceable Author Statement more info	PubMed
part_of IgG immunoglobulin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of IgG immunoglobulin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of IgG immunoglobulin complex	NAS Non-traceable Author Statement more info	PubMed
part_of IgM immunoglobulin complex	NAS Non-traceable Author Statement more info	PubMed
located_in blood microparticle	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.