IGKC (immunoglobulin kappa constant)

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Gene Gene information from NCBI Gene database.
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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 Show/Hide all (27)
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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.
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MIM HGNC e!Ensembl
147200 5716 ENSG00000211592
Protein Protein information from UniProt database.
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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 
RTVAAPSVFIFPPSDEQLKSGTASVVCLLNNFYPREAKVQWKVDNALQSGNSQESVTEQD
SKDSTYSLSSTLTLSKADYEKHKVYACEVTHQGLSSPVTKSFNRGEC
Sequence length 107
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Recurrent infections associated with rare immunoglobulin isotypes deficiency Pathogenic rs2528720999 RCV000022621
RCV000022622
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (38)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 23370224
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28404947
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis Pubtator 10354514 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 32792518 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm LHGDN 16083750
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22351685, 24054945
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23028600, 29879453, 36581948 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 22351685
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 27662660 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dysgammaglobulinemia Dysgammaglobulinemia CTD_human_DG 3931219
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for IGKC.

No additional diseases found yet through genes similar to IGKC.