MCID: CMP028
MIFTS: 45

Complement Component 2 Deficiency

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for Complement Component 2 Deficiency

MalaCards integrated aliases for Complement Component 2 Deficiency:

Name: Complement Component 2 Deficiency 57 12 76 53 25 75 29 6 15 40 73
C2 Deficiency 57 25 75 13
C2d 57 25 75
Complement 2 Deficiency 25 73
Complement Component-2 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
complement component 2 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 217000
Disease Ontology 12 DOID:0060295
ICD10 33 D84.1
MedGen 42 C3150275
MeSH 44 D007105

Summaries for Complement Component 2 Deficiency

Genetics Home Reference : 25 Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. People with complement component 2 deficiency have a significantly increased risk of recurrent bacterial infections, specifically of the lungs (pneumonia), the membrane covering the brain and spinal cord (meningitis), and the blood (sepsis), which may be life-threatening. These infections most commonly occur in infancy and childhood and become less frequent in adolescence and adulthood.

MalaCards based summary : Complement Component 2 Deficiency, also known as c2 deficiency, is related to apolipoprotein c-ii deficiency and lupus erythematosus. An important gene associated with Complement Component 2 Deficiency is C2 (Complement C2), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement and coagulation cascades. The drugs Cetuximab and Irinotecan have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and skin, and related phenotypes are purpura and systemic lupus erythematosus

UniProtKB/Swiss-Prot : 75 Complement component 2 deficiency: A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus erythematosus. Skin and joint manifestations are common and renal disease is relatively rare. Patients with complement component 2 deficiency are also reported to have recurrent invasive infections.

NIH Rare Diseases : 53 Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.

Wikipedia : 76 Complement C2 is a protein that in humans is encoded by the C2 gene. The protein encoded by this gene is... more...

Description from OMIM: 217000

Related Diseases for Complement Component 2 Deficiency

Diseases related to Complement Component 2 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 apolipoprotein c-ii deficiency 11.2
2 lupus erythematosus 10.2
3 systemic lupus erythematosus 10.0
4 type i 9.9
5 discoid lupus erythematosus 9.9
6 cutaneous lupus erythematosus 9.8
7 subacute cutaneous lupus erythematosus 9.8
8 arthritis 9.7
9 common variable immunodeficiency 9.7
10 glomerulonephritis 9.7
11 rheumatic disease 9.7
12 enthesopathy 9.7
13 vasculitis 9.7
14 macular degeneration, age-related, 14 9.1 C2 CFB
15 retinal drusen 8.9 C2 CFB

Graphical network of the top 20 diseases related to Complement Component 2 Deficiency:



Diseases related to Complement Component 2 Deficiency

Symptoms & Phenotypes for Complement Component 2 Deficiency

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
henoch-schonlein purpura

Immunology:
autoimmune disease
systemic lupus erythematosus
sjogren syndrome
c2 deficiency

Muscle Soft Tissue:
polymyositis


Clinical features from OMIM:

217000

Human phenotypes related to Complement Component 2 Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 purpura 32 HP:0000979
2 systemic lupus erythematosus 32 HP:0002725

Drugs & Therapeutics for Complement Component 2 Deficiency

Drugs for Complement Component 2 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 130)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
2
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
3
Oxaliplatin Approved, Investigational Phase 2,Phase 1 61825-94-3 5310940 9887054 43805 6857599
4
Simvastatin Approved Phase 2 79902-63-9 54454
5
Carboplatin Approved Phase 2,Phase 1 41575-94-4 10339178 498142 38904
6
Cisplatin Approved Phase 2,Phase 1 15663-27-1 84093 441203 2767
7
Gemcitabine Approved Phase 2 95058-81-4 60750
8
Trametinib Approved Phase 2 871700-17-3 11707110
9
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
10
rituximab Approved Phase 2,Phase 1 174722-31-7 10201696
11
Palbociclib Approved, Investigational Phase 2,Phase 1 571190-30-2 11431660 5005498 5330286
12
Docetaxel Approved, Investigational Phase 2,Phase 1 114977-28-5 148124
13
Hydroxychloroquine Approved Phase 2 118-42-3 3652
14
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
15
Pembrolizumab Approved Phase 1, Phase 2 1374853-91-4
16
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
17 Estradiol valerate Approved, Investigational, Vet_approved Phase 2 979-32-8
18
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
19
Goserelin Approved Phase 2 65807-02-5 47725 5311128
20
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
21
Polyestradiol phosphate Approved Phase 2 28014-46-2
22
Ceritinib Approved Phase 2 1032900-25-6
23
Epinephrine Approved, Vet_approved Phase 1, Phase 2 51-43-4 5816
24
Racepinephrine Approved Phase 1, Phase 2 329-65-7 838
25
Radium Ra 223 dichloride Approved, Investigational Phase 1, Phase 2 444811-40-9
26
Etoposide Approved Phase 1, Phase 2 33419-42-0 36462
27
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 59-30-3 6037
28
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
29
Nicotinamide Approved, Investigational, Nutraceutical Phase 2 98-92-0 936
30
Camptothecin Experimental Phase 2 7689-03-4
31
Entinostat Investigational Phase 1, Phase 2,Phase 2 209783-80-2
32 Anticholesteremic Agents Phase 2
33 Antimetabolites Phase 2,Phase 1
34 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
35 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
36 Hypolipidemic Agents Phase 2
37 Lipid Regulating Agents Phase 2
38 topoisomerase I inhibitors Phase 2
39 Topoisomerase Inhibitors Phase 2,Phase 1
40 Protein Kinase Inhibitors Phase 2,Phase 1
41 Alkylating Agents Phase 2
42 Antibodies Phase 2,Phase 1
43 Antibodies, Monoclonal Phase 2,Phase 1
44 Antineoplastic Agents, Alkylating Phase 2
45 Bendamustine Hydrochloride Phase 2
46 Complement System Proteins Phase 2
47 Immunoglobulin G Phase 2
48 Immunoglobulins Phase 2,Phase 1
49 Nitrogen Mustard Compounds Phase 2
50 Anti-Infective Agents Phase 2,Phase 1

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Simvastatin + Cetuximab/Irinotecan in K-ras Mutant Colorectal Cancer (CRC) Completed NCT01281761 Phase 2 cetuximab/irinotecan/simvastatin
2 Safety and Efficacy Study for Solid Tumor Patients Treated With Eltrombopag Completed NCT01147809 Phase 2 Eltrombopag olamine
3 Open-label Study to Evaluate the Safety, PK, and PD of MEK Inhibitor GSK1120212 in Subjects With Relapsed or Refractory Leukemias Completed NCT00920140 Phase 2 GSK1120212;GSK1120212
4 Ofatumumab Plus Bendamustine in Frontline and Relapsed Chronic Lymphocytic Leukaemia (CLL) Completed NCT01520922 Phase 2 Bendamustine
5 Study Of Ispinesib In Subjects With Breast Cancer Completed NCT00089973 Phase 2 Ispinesib
6 A Phase I/II Study of the Tumor-targeting Human L19-IL2 Monoclonal Antibody-cytokine Fusion Protein in Combination With Rituximab in Relapsed or Refractory Diffuse Large B-cell Lymphoma (DLBCL) Recruiting NCT02957019 Phase 1, Phase 2 L19-IL2 - Ph I;L19-IL2 at RD - Ph II;Rituximab
7 Functional Imaging of T-Cell Activation With [18F]F-AraG in Urothelial Carcinoma Patients Receiving Neoadjuvant Therapy or Patients With Cancer Receiving Standard of Care Anti-PD-1/L1 Recruiting NCT03007719 Phase 2 Fluorine F 18 Ara-G
8 Sorafenib Induced Autophagy Using Hydroxychloroquine in Hepatocellular Cancer Recruiting NCT03037437 Phase 2 Sorafenib (SOR);Hydroxychloroquine (HCQ)
9 Ph1b/2 Dose-Escalation Study of Entinostat With Pembrolizumab in NSCLC With Expansion Cohorts in NSCLC, Melanoma, and Colorectal Cancer Recruiting NCT02437136 Phase 1, Phase 2 entinostat;pembrolizumab
10 Efficacy and Safety of Oral HBI-8000 in Patients With Relapsed or Refractory Peripheral T-cell Lymphoma (PTCL) Recruiting NCT02953652 Phase 2 HBI-8000
11 Alternative Dosing Schedule of Palbociclib in Metastatic Hormone Receptor Positive Breast Cancer Recruiting NCT03007979 Phase 2 Palbociclib;Letrozole;Fulvestrant;Goserelin
12 A Phase II Study to Evaluate the Efficacy and Safety of Oral Ceritinib in Patients With ALK-positive NSCLC Metastatic to the Brain and/or to Leptomeninges Recruiting NCT02336451 Phase 2 LDK378
13 Docetaxel With or Without AZD6244 in Melanoma Active, not recruiting NCT01256359 Phase 2 Docetaxel and AZD6244;Docetaxel and placebo
14 Dose-finding, Safety and Efficacy Study of Radium-223 Dichloride (XOFIGO) in RCC Patients With Bone Metastases. (EIFFEL) Active, not recruiting NCT02880943 Phase 1, Phase 2 XOFIGO
15 A Study of Abemaciclib in Recurrent Glioblastoma Active, not recruiting NCT02981940 Phase 2 Abemaciclib
16 Phase Ib/II Study of M3814 With Etoposide and Cisplatin in Small Cell Lung Cancer (SCLC) Extensive Disease (ED) Terminated NCT03116971 Phase 1, Phase 2 M3814;M3814 matching placebo;Cisplatin;Etoposide;M3814;Cisplatin;Etoposide
17 Phase 2 Study of Fulvestrant With and Without Entinostat in Postmenopausal Women With ER+ Advanced Breast Cancer Withdrawn NCT02115594 Phase 2 Fulvestrant;Entinostat;Placebo
18 Study to Assess Food Effect on Pharmacokinetics of Entinostat in Subjects With Breast Cancer or Non-Small Cell Lung Cancer Completed NCT01594398 Phase 1 entinostat;entinostat;Erlotinib;Erlotinib;Exemestane;Exemestane
19 A Trial To Assess Safety And Tolerability Of PF-04691502 In Cancer Patients Completed NCT00927823 Phase 1 PF-04691502
20 Relative Bioavailability Trial of Oral Dispersible Praziquantel Tablets in Healthy Volunteers Completed NCT02325713 Phase 1 Oral dispersible tablet of praziquantel (ODT-PZQ);Cysticide;ODT-PZQ;ODT-PZQ;ODT-PZQ;Cysticide
21 Escalating Dose Study in Subjects With Relapsed or Refractory B Cell Non-Hodgkin Lymphoma, Chronic Lymphocytic Leukemia, and Waldenstrom's Macroglobulinemia Completed NCT01351935 Phase 1 AVL-292
22 A Study Of Oral Palbociclib (PD-0332991), A Cyclin-Dependent Kinase Inhibitor, In Patients With Advanced Cancer Completed NCT00141297 Phase 1 PD-0332991
23 A Study Of Combined C- MET Inhibitor And PAN-HER Inhibitor (PF-02341066 And PF-00299804) In Patients With Non- Small Cell Lung Cancer Completed NCT01121575 Phase 1 PF-02341066;PF-00299804;PF-02341066;PF-00299804
24 A Study to Evaluate Corrected QT Interval and Drug-Drug Interaction of Trastuzumab on Carboplatin in the Presence of Docetaxel in Patients With HER2-Positive Metastatic or Locally Advanced Inoperable Cancer Completed NCT00927589 Phase 1 carboplatin;docetaxel;trastuzumab
25 Study Of SU011248 In Combination With Docetaxel In Patients With Metastatic Breast Cancer Completed NCT00291577 Phase 1 Sunitinib (Sutent);Taxotere
26 Obinutuzumab, High Dose Methylprednisolone (HDMP), and Lenalidomide for the Treatment of Patients With Richter's Syndrome Recruiting NCT03113695 Phase 1 Obinutuzumab;lenalidomide;HDMP
27 A Study of MORAb-202 in Participants With Solid Tumors Recruiting NCT03386942 Phase 1 MORAb-202
28 First in Human Evaluation of Safety, Pharmacokinetics, and Clinical Activity of a Monoclonal Antibody Targeting Netrin 1 in Patients With Advanced/Metastatic Solid Tumors Recruiting NCT02977195 Phase 1 NP137
29 Eribulin Mesylate and Radiation Therapy in Treating Patients With Retroperitoneal Liposarcoma That Can Be Removed by Surgery Recruiting NCT03361436 Phase 1 Eribulin Mesylate
30 Total Marrow and Lymphoid Irradiation Before Donor Transplant and Cyclophosphamide in Treating Patients With Acute Myeloid Leukemia Recruiting NCT03467386 Phase 1 Cyclophosphamide;Tacrolimus
31 Study of S 95005 in Combination With Oxaliplatin in Metastatic Colorectal Cancer Recruiting NCT02848443 Phase 1 Trifluridine/tipiracil hydrochloride (S 95005);Oxaliplatin;Bevacizumab;Nivolumab
32 A Study of the Safety, Pharmacokinetics, and Therapeutic Activity of RO6958688 in Combination With Atezolizumab in Participants With Locally Advanced and/or Metastatic Carcinoembryonic Antigen (CEA)-Positive Solid Tumors Active, not recruiting NCT02650713 Phase 1 Atezolizumab;RO6958688
33 Neoantigen-based Personalized Vaccine Combined With Immune Checkpoint Blockade Therapy in Patients With Newly Diagnosed, Unmethylated Glioblastoma Not yet recruiting NCT03422094 Phase 1
34 Clinical Study of Relapsed/Refractory Chronic Lymphocytic Leukemia (CLL) Suspended NCT02117336 Phase 1 P1446A-05
35 Biomarkers of Meats and Potatoes Intake. Completed NCT03305718 Not Applicable
36 Minimal Residual Disease in Peripheral T-cell Lymphoma Recruiting NCT03297697 Not Applicable

Search NIH Clinical Center for Complement Component 2 Deficiency

Genetic Tests for Complement Component 2 Deficiency

Genetic tests related to Complement Component 2 Deficiency:

# Genetic test Affiliating Genes
1 Complement Component 2 Deficiency 29 C2

Anatomical Context for Complement Component 2 Deficiency

MalaCards organs/tissues related to Complement Component 2 Deficiency:

41
Lung, Brain, Skin, Breast, Spinal Cord, T Cells, B Cells

Publications for Complement Component 2 Deficiency

Articles related to Complement Component 2 Deficiency:

(show all 38)
# Title Authors Year
1
Hereditary Heterozygous C2 Deficiency: Variable Clinical and Serological Manifestations Among Three Sisters. ( 27502238 )
2017
2
Niemann-Pick type C2 deficiency impairs autophagy-lysosomal activity, mitochondrial function, and TLR signaling in adipocytes. ( 27402802 )
2016
3
Supraglottitis due to group B streptococcus in an adult with IgG4 and C2 deficiency: a case report and review of the literature. ( 25124395 )
2015
4
Niemann-pick type C2 deficiency in human fibroblasts confers robust and selective activation of prostaglandin E2 biosynthesis. ( 23814065 )
2013
5
Overcoming C2 deficiency. ( 22863655 )
2012
6
Vaccination against encapsulated bacteria in hereditary C2 deficiency results in antibody response and opsonization due to antibody-dependent complement activation. ( 22842196 )
2012
7
Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: treatment with rituximab. ( 20890976 )
2011
8
Impaired opsonization with complement and phagocytosis of Streptococcus pyogenes in sera from subjects with inherited C2 deficiency. ( 20417301 )
2010
9
Recombinant human complement component C2 produced in a human cell line restores the classical complement pathway activity in-vitro: an alternative treatment for C2 deficiency diseases. ( 20727163 )
2010
10
Rheumatological manifestations, organ damage and autoimmunity in hereditary C2 deficiency. ( 17478473 )
2007
11
C2 deficiency primary meningococcal arthritis of the elbow by Neisseria meningitidis serogroup Y in a 12-year old girl. ( 17653506 )
2007
12
Homozygosity for the IgG2 subclass allotype G2M(n) protects against severe infection in hereditary C2 deficiency. ( 16785571 )
2006
13
Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease. ( 15643297 )
2005
14
Anti-tumor necrosis factor therapy is tolerated in an individual with homozygous complement C2 deficiency. ( 16357744 )
2005
15
Immunoglobulin deficiencies and susceptibility to infection among homozygotes and heterozygotes for C2 deficiency. ( 12959222 )
2003
16
Necrotic facial papules in an adolescent: C2 deficiency with eventual development of lupus erythematosus. ( 12869153 )
2003
17
Impaired IgG responses in a child with homozygous C2 deficiency and recurrent pneumococcal septicaemia. ( 11227345 )
2001
18
Low concentrations of immunoglobulin G antibodies to Salmonella serogroup C in C2 deficiency: suggestion of a mannan-binding lectin pathway-dependent mechanism. ( 10607303 )
1999
19
A novel type II complement C2 deficiency allele in an African- American family. ( 9670930 )
1998
20
HLA-Cw alleles associated with HLA extended haplotypes and C2 deficiency. ( 9802610 )
1998
21
C2 deficiency in blood donors and lupus patients: prevalence, clinical characteristics and HLA-associations in the Brazilian population. ( 9229366 )
1997
22
Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion. ( 8621452 )
1996
23
Serum concentrations of C4 isotypes and factor B in type I C2 deficiency suggest haplotype-dependent quantitative expression of MHC class III complement genes. ( 7576717 )
1995
24
Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. ( 8420996 )
1993
25
Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. ( 1577763 )
1992
26
Dapsone is an effective therapy for the skin lesions of subacute cutaneous lupus erythematosus and urticarial vasculitis in a patient with C2 deficiency. ( 2290166 )
1990
27
Increased amounts of C4-containing immune complexes and inefficient activation of C3 and the terminal complement pathway in a patient with homozygous C2 deficiency and systemic lupus erythematosus. ( 2300790 )
1990
28
Successful plasma infusion treatment of a patient with C2 deficiency and systemic lupus erythematosus: clinical experience over forty-five months. ( 2751722 )
1989
29
Subacute cutaneous lupus erythematosus in multiple members of a family with C2 deficiency. ( 3467658 )
1987
30
HLA genotypes in a family with a case of homozygous C2 deficiency and discoid lupus erythematosus. ( 2431580 )
1986
31
Enhancement of granulocyte oxidative metabolism in sera from patients with C2 deficiency and systemic lupus erythematosus. ( 6307890 )
1983
32
Familial discoid lupus erythematosus associated with heterozygote C2 deficiency. ( 6902670 )
1980
33
HLA-linked C2 deficiency in a Dutch patient with systemic lupus erythematosus. ( 469009 )
1979
34
Hereditary complement (C2) deficiency with discoid lupus erythematosus and idiopathic atrophoderma. ( 315933 )
1979
35
Hereditary C2 deficiency associated with common variable immunodeficiency. ( 313733 )
1979
36
Hereditary C2 deficiency and systemic lupus erythematosus associated with severe glomerulonephritis. ( 348363 )
1978
37
Linkage of gene for C2 deficiency and the major histocompatibility complex MHC in man. Family study of a further case. ( 133535 )
1976
38
Hereditary C2 deficiency: Genetic studies and association with the HL-A system. ( 1127385 )
1975

Variations for Complement Component 2 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Complement Component 2 Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 C2 p.Cys131Tyr VAR_008544 rs760744400
2 C2 p.Ser209Phe VAR_008545 rs28934590
3 C2 p.Gly464Arg VAR_008546 rs151340617

ClinVar genetic disease variations for Complement Component 2 Deficiency:

6
(show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh37 Chromosome 6, 31914180: 31914180
2 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh38 Chromosome 6, 31946403: 31946403
3 C2 NM_001282459.1(C2): c.841_868del28 (p.Val281Profs) deletion Likely pathogenic rs9332736 GRCh37 Chromosome 6, 31902068: 31902095
4 C2 NM_001282459.1(C2): c.841_868del28 (p.Val281Profs) deletion Likely pathogenic rs9332736 GRCh38 Chromosome 6, 31934291: 31934318
5 C2; CFB NM_001710.5(CFB): c.1598A> G (p.Lys533Arg) single nucleotide variant Benign/Likely benign rs149101394 GRCh37 Chromosome 6, 31918154: 31918154
6 C2; CFB NM_001710.5(CFB): c.1598A> G (p.Lys533Arg) single nucleotide variant Benign/Likely benign rs149101394 GRCh38 Chromosome 6, 31950377: 31950377
7 C2 NM_000063.5(C2): c.-145A> C single nucleotide variant Likely benign rs150299426 GRCh37 Chromosome 6, 31895385: 31895385
8 C2 NM_000063.5(C2): c.-145A> C single nucleotide variant Likely benign rs150299426 GRCh38 Chromosome 6, 31927608: 31927608
9 C2 NM_000063.5(C2): c.81C> T (p.Asn27=) single nucleotide variant Uncertain significance rs201336507 GRCh37 Chromosome 6, 31895766: 31895766
10 C2 NM_000063.5(C2): c.81C> T (p.Asn27=) single nucleotide variant Uncertain significance rs201336507 GRCh38 Chromosome 6, 31927989: 31927989
11 C2 NM_000063.5(C2): c.218C> T (p.Pro73Leu) single nucleotide variant Likely benign rs137902889 GRCh37 Chromosome 6, 31895903: 31895903
12 C2 NM_000063.5(C2): c.218C> T (p.Pro73Leu) single nucleotide variant Likely benign rs137902889 GRCh38 Chromosome 6, 31928126: 31928126
13 C2; CFB NM_000063.5(C2): c.1414G> A (p.Ala472Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142243595 GRCh38 Chromosome 6, 31943278: 31943278
14 C2; CFB NM_000063.5(C2): c.1414G> A (p.Ala472Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142243595 GRCh37 Chromosome 6, 31911055: 31911055
15 C2; CFB NM_000063.5(C2): c.1450A> G (p.Ile484Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145988012 GRCh38 Chromosome 6, 31943314: 31943314
16 C2; CFB NM_000063.5(C2): c.1450A> G (p.Ile484Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145988012 GRCh37 Chromosome 6, 31911091: 31911091
17 C2; CFB NM_000063.5(C2): c.1835G> A (p.Ser612Asn) single nucleotide variant Likely benign rs573509224 GRCh38 Chromosome 6, 31944159: 31944159
18 C2; CFB NM_000063.5(C2): c.1835G> A (p.Ser612Asn) single nucleotide variant Likely benign rs573509224 GRCh37 Chromosome 6, 31911936: 31911936
19 C2 NM_000063.5(C2): c.*120T> C single nucleotide variant Uncertain significance rs886061294 GRCh38 Chromosome 6, 31945477: 31945477
20 C2 NM_000063.5(C2): c.*120T> C single nucleotide variant Uncertain significance rs886061294 GRCh37 Chromosome 6, 31913254: 31913254
21 C2; CFB NM_000063.5(C2): c.*304A> G single nucleotide variant Conflicting interpretations of pathogenicity rs72842444 GRCh38 Chromosome 6, 31945661: 31945661
22 C2; CFB NM_000063.5(C2): c.*304A> G single nucleotide variant Conflicting interpretations of pathogenicity rs72842444 GRCh37 Chromosome 6, 31913438: 31913438
23 C2; CFB NM_001710.5(CFB): c.221G> A (p.Arg74His) single nucleotide variant Likely benign rs117314762 GRCh37 Chromosome 6, 31914306: 31914306
24 C2; CFB NM_001710.5(CFB): c.221G> A (p.Arg74His) single nucleotide variant Likely benign rs117314762 GRCh38 Chromosome 6, 31946529: 31946529
25 C2; CFB NM_001710.5(CFB): c.405C> T (p.Tyr135=) single nucleotide variant Likely benign rs4151650 GRCh37 Chromosome 6, 31914890: 31914890
26 C2; CFB NM_001710.5(CFB): c.405C> T (p.Tyr135=) single nucleotide variant Likely benign rs4151650 GRCh38 Chromosome 6, 31947113: 31947113
27 C2; CFB NM_001710.5(CFB): c.600C> T (p.Ser200=) single nucleotide variant Likely benign rs113197809 GRCh37 Chromosome 6, 31915240: 31915240
28 C2; CFB NM_001710.5(CFB): c.600C> T (p.Ser200=) single nucleotide variant Likely benign rs113197809 GRCh38 Chromosome 6, 31947463: 31947463
29 C2; CFB NM_001710.5(CFB): c.754G> A (p.Gly252Ser) single nucleotide variant Likely benign rs4151651 GRCh37 Chromosome 6, 31915614: 31915614
30 C2; CFB NM_001710.5(CFB): c.754G> A (p.Gly252Ser) single nucleotide variant Likely benign rs4151651 GRCh38 Chromosome 6, 31947837: 31947837
31 C2; CFB NM_001710.5(CFB): c.858C> T (p.Phe286=) single nucleotide variant Likely benign rs117905900 GRCh37 Chromosome 6, 31915819: 31915819
32 C2; CFB NM_001710.5(CFB): c.858C> T (p.Phe286=) single nucleotide variant Likely benign rs117905900 GRCh38 Chromosome 6, 31948042: 31948042
33 C2; CFB NM_001710.5(CFB): c.1143C> T (p.Arg381=) single nucleotide variant Likely benign rs150920440 GRCh37 Chromosome 6, 31916713: 31916713
34 C2; CFB NM_001710.5(CFB): c.1143C> T (p.Arg381=) single nucleotide variant Likely benign rs150920440 GRCh38 Chromosome 6, 31948936: 31948936
35 C2 NM_000063.5(C2): c.1066C> T (p.Leu356Phe) single nucleotide variant Uncertain significance rs886061293 GRCh37 Chromosome 6, 31905173: 31905173
36 C2 NM_000063.5(C2): c.1066C> T (p.Leu356Phe) single nucleotide variant Uncertain significance rs886061293 GRCh38 Chromosome 6, 31937396: 31937396
37 C2 NM_000063.5(C2): c.1130-11C> T single nucleotide variant Likely benign rs117576077 GRCh37 Chromosome 6, 31906997: 31906997
38 C2 NM_000063.5(C2): c.1130-11C> T single nucleotide variant Likely benign rs117576077 GRCh38 Chromosome 6, 31939220: 31939220
39 C2; CFB NM_000063.5(C2): c.1529G> A (p.Arg510His) single nucleotide variant Conflicting interpretations of pathogenicity rs45476300 GRCh38 Chromosome 6, 31943489: 31943489
40 C2; CFB NM_000063.5(C2): c.1529G> A (p.Arg510His) single nucleotide variant Conflicting interpretations of pathogenicity rs45476300 GRCh37 Chromosome 6, 31911266: 31911266
41 C2 NM_000063.5(C2): c.1602T> C (p.Leu534=) single nucleotide variant Uncertain significance rs767886405 GRCh38 Chromosome 6, 31943678: 31943678
42 C2 NM_000063.5(C2): c.1602T> C (p.Leu534=) single nucleotide variant Uncertain significance rs767886405 GRCh37 Chromosome 6, 31911455: 31911455
43 C2 NM_000063.5(C2): c.1902+5G> A single nucleotide variant Uncertain significance rs201711512 GRCh38 Chromosome 6, 31944231: 31944231
44 C2 NM_000063.5(C2): c.1902+5G> A single nucleotide variant Uncertain significance rs201711512 GRCh37 Chromosome 6, 31912008: 31912008
45 C2; CFB NM_000063.5(C2): c.1902+6G> C single nucleotide variant Benign/Likely benign rs9332730 GRCh38 Chromosome 6, 31944232: 31944232
46 C2; CFB NM_000063.5(C2): c.1902+6G> C single nucleotide variant Benign/Likely benign rs9332730 GRCh37 Chromosome 6, 31912009: 31912009
47 C2 NM_000063.5(C2): c.*82C> T single nucleotide variant Uncertain significance rs747202032 GRCh38 Chromosome 6, 31945439: 31945439
48 C2 NM_000063.5(C2): c.*82C> T single nucleotide variant Uncertain significance rs747202032 GRCh37 Chromosome 6, 31913216: 31913216
49 C2; CFB NM_001710.5(CFB): c.450A> G (p.Arg150=) single nucleotide variant Benign rs1048709 GRCh37 Chromosome 6, 31914935: 31914935
50 C2; CFB NM_001710.5(CFB): c.450A> G (p.Arg150=) single nucleotide variant Benign rs1048709 GRCh38 Chromosome 6, 31947158: 31947158

Expression for Complement Component 2 Deficiency

Search GEO for disease gene expression data for Complement Component 2 Deficiency.

Pathways for Complement Component 2 Deficiency

GO Terms for Complement Component 2 Deficiency

Biological processes related to Complement Component 2 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.16 C2 CFB
2 regulation of complement activation GO:0030449 8.96 C2 CFB
3 complement activation GO:0006956 8.62 C2 CFB

Molecular functions related to Complement Component 2 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.16 C2 CFB
2 serine-type endopeptidase activity GO:0004252 8.96 C2 CFB
3 serine-type peptidase activity GO:0008236 8.62 C2 CFB

Sources for Complement Component 2 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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