IGKC (immunoglobulin kappa constant)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 3514
Gene name Immunoglobulin kappa constant
Gene symbol IGKC
Synonyms (NCBI Gene)
HCAK1IGKCDKm
Chromosome 2
Chromosome location 2p11.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IDA 11498595
GO:0002250 Process Adaptive immune response IEA
GO:0002250 Process Adaptive immune response NAS 20176268
GO:0002376 Process Immune system process IEA
GO:0003823 Function Antigen binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
147200 5716 ENSG00000211592
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01834
Protein name Immunoglobulin kappa constant (Ig kappa chain C region) (Ig kappa chain C region AG) (Ig kappa chain C region CUM) (Ig kappa chain C region EU) (Ig kappa chain C region OU) (Ig kappa chain C region ROY) (Ig kappa chain C region TI)
Protein 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 s
PDB 1A4J , 1A4K , 1CLY , 1D5B , 1D5I , 1D6V , 1DFB , 1GAF , 1HEZ , 1HKL , 1HZH , 1I7Z , 1MIM , 1N0X , 1UCB , 2NY7 , 2O5X , 2O5Y , 2O5Z , 2QQK , 2QQL , 2QQN , 2QSC , 2R56 , 2RFX , 2VXQ , 3B2U , 3B2V , 3BDY , 3BE1 , 3BKY , 3BN9 , 3BQU , 3C08 , 3C09 , 3CFJ , 3CFK , 3CSY , 3D0L , 3D85 , 3DVG , 3DVN , 3EYF , 3EYO , 3EYQ , 3IU3 , 3O11 , 3QCT , 3QCU , 3QCV , 3RU8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07654 C1-set 8 → 94 Immunoglobulin C1-set domain Domain
Sequence
Sequence length 107
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Recurrent infections associated with rare immunoglobulin isotypes deficiency Pathogenic rs2528720999 RCV000022621
RCV000022622
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs202158801, rs232230 -
Show/Hide Text Mining Associations (23)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Disease Associate 32362107
Adenocarcinoma of Lung Associate 28404947
Amyloidosis Associate 10354514
Amyotrophic Lateral Sclerosis Associate 32792518
Breast Neoplasms Associate 23028600, 29879453, 36581948
Calcinosis Cutis Inhibit 27662660
Carcinoma Non Small Cell Lung Stimulate 29483918
Colorectal Neoplasms Associate 27662660
Esophageal Neoplasms Associate 36650114
Esophageal Squamous Cell Carcinoma Associate 36650114