C2D
MCID: CMP028
MIFTS: 45

Complement Component 2 Deficiency (C2D)

Categories: Cardiovascular diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Complement Component 2 Deficiency

MalaCards integrated aliases for Complement Component 2 Deficiency:

Name: Complement Component 2 Deficiency 56 12 74 52 25 73 29 6 15 39 71
C2 Deficiency 56 25 73 13
C2d 56 25 73
Complement 2 Deficiency 25 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
complement component 2 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060295
OMIM 56 217000
MeSH 43 D007105
ICD10 32 D84.1
MedGen 41 C3150275
UMLS 71 C0398756 C3150275

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. Complement component 2 deficiency is also associated with an increased risk of developing autoimmune disorders such as systemic lupus erythematosus (SLE) or vasculitis. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. Between 10 and 20 percent of individuals with complement component 2 deficiency develop SLE. Females with complement component 2 deficiency are more likely to have SLE than affected males, but this is also true of SLE in the general population. The severity of complement component 2 deficiency varies widely. While some affected individuals experience recurrent infections and other immune system difficulties, others do not have any health problems related to the disorder.

MalaCards based summary : Complement Component 2 Deficiency, also known as c2 deficiency, is related to enterocolitis and complement component 3 deficiency. 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 Immune response Lectin induced complement pathway. Affiliated tissues include skin, lung and brain, and related phenotypes are purpura and systemic lupus erythematosus

Disease Ontology : 12 A complement deficiency that is characterized by recurrent bacterial infections, has material basis in autosomal recessive inheritance of mutation in the C2 gene.

NIH Rare Diseases : 52 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.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Complement C2 is a protein that in humans is encoded by the C2 gene. The protein encoded by this gene is... more...

More information 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 top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 enterocolitis 30.0 CFH CFB
2 complement component 3 deficiency 29.7 C4B C4A
3 complement deficiency 29.5 CFH CFB C4B C4A C2
4 apolipoprotein c-ii deficiency 11.5
5 complement factor b deficiency 10.5 CFB C2
6 macular degeneration, age-related, 14 10.5 CFB C2
7 lupus erythematosus 10.5
8 systemic lupus erythematosus 10.4
9 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.3 HADHA ACADVL
10 3-hydroxyacyl-coa dehydrogenase deficiency 10.3 HADHA ACADVL
11 acyl-coa dehydrogenase deficiency 10.3 HADHA ACADVL
12 bacterial infectious disease 10.3
13 vasculitis 10.3
14 complement factor i deficiency 10.3 C4B C2
15 atypical hemolytic uremic syndrome with complement gene abnormality 10.3 CFH CFB
16 dense deposit disease 10.2 CFH CFB
17 genetic atypical hemolytic-uremic syndrome 10.2 CFH CFB
18 c3 glomerulopathy 10.2 CFH CFB
19 acyl-coa dehydrogenase, short-chain, deficiency of 10.2 HADHA ACADVL
20 nephrotic syndrome, type 7 10.2 CFH CFB
21 3-methylcrotonyl-coa carboxylase deficiency 10.2 HADHA ACADVL
22 macular degeneration, age-related, 6 10.2 CFH CFB
23 carnitine palmitoyltransferase i deficiency 10.1 HADHA ACADVL
24 juvenile dermatitis herpetiformis 10.1 C4B C4A
25 macular degeneration, age-related, 4 10.1 CFH CFB
26 autoimmune disease 10.1
27 louse-borne relapsing fever 10.1 C4B C4A
28 atrial standstill 1 10.1 SCO2 HADHA ACADVL
29 tick-borne relapsing fever 10.1 C4B C4A
30 acyl-coa dehydrogenase, very long-chain, deficiency of 10.1 HADHA ACADVL
31 exanthem 10.1
32 discoid lupus erythematosus 10.1
33 carnitine deficiency, systemic primary 10.1 HADHA ACADVL
34 pediatric systemic lupus erythematosus 10.0 C4B C4A
35 immunodeficiency due to a classical component pathway complement deficiency 10.0 C4B C4A C2
36 cutaneous lupus erythematosus 10.0
37 urticaria 10.0
38 connective tissue disease 10.0
39 haemophilus influenzae 10.0
40 pneumococcal meningitis 10.0
41 complement component 5 deficiency 10.0 C4B C4A
42 acyl-coa dehydrogenase, medium-chain, deficiency of 10.0 HADHA ACADVL
43 otitis media 9.9
44 neutropenia 9.9
45 rheumatic disease 9.9
46 dermatitis 9.9
47 glomerulonephritis 9.9
48 meningitis 9.9
49 primary agammaglobulinemia 9.9
50 undifferentiated connective tissue disease 9.9

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

Human phenotypes related to Complement Component 2 Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 purpura 31 HP:0000979
2 systemic lupus erythematosus 31 HP:0002725

Symptoms via clinical synopsis from OMIM:

56
Immunology:
systemic lupus erythematosus
autoimmune disease
sjogren syndrome
c2 deficiency

Muscle Soft Tissue:
polymyositis

Skin Nails Hair Skin:
henoch-schonlein purpura

Clinical features from OMIM:

217000

Drugs & Therapeutics for Complement Component 2 Deficiency

Search Clinical Trials , 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:

40
Skin, Lung, Brain, Spinal Cord, T Cells, Monocytes, Small Intestine

Publications for Complement Component 2 Deficiency

Articles related to Complement Component 2 Deficiency:

(show top 50) (show all 209)
# Title Authors PMID Year
1
Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion. 61 56
8621452 1996
2
Complement factor 2 deficiency: a clinical and serological family study. 61 56
1361318 1992
3
Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. 61 56
1577763 1992
4
Molecular heterogeneity of C2 deficiency. 61 56
1542325 1992
5
A restriction fragment of the C2 gene is a unique marker for C2 deficiency and the uncommon C2 allele C2*B (a marker for type 1 diabetes). 61 56
1684365 1991
6
Subacute cutaneous lupus erythematosus in multiple members of a family with C2 deficiency. 61 56
3467658 1987
7
Heterozygous C2 deficiency associated with angioedema, myasthenia gravis, and systemic lupus erythematosus. 61 56
3718019 1986
8
The molecular basis for genetic deficiency of the second component of human complement. 61 56
2582254 1985
9
Serologic studies in a family with heterozygous C2 deficiency. 61 56
6797295 1981
10
Complement-human histocompatibility antigen haplotypes in C2 deficiency. 61 56
7462431 1981
11
Deficiency of the second component of complement. Its occurrence with membranoproliferative glomerulonephritis. 61 56
6998410 1980
12
Heterozygous C2-deficiency and myasthenia gravis. 61 56
7191069 1980
13
Studies on the C2-deficiency gene in man. 61 56
7380478 1980
14
Hereditary C2 deficiency associated with common variable immunodeficiency. 61 56
313733 1979
15
C2 deficiency and a lupus erythematosus-like illness: family re-evaluation. 61 56
434661 1979
16
Linkage relationship of C2 deficiency, HLA and glyoxalase I loci. 61 56
161677 1979
17
The chromosomal order of genes controlling the major histocompatibility complex, properdin factor B, and deficiency of the second component of complement. 61 56
993342 1976
18
Hereditary C2 deficiency: diagnosis and HLA gene complex associations. 61 56
1082903 1976
19
Linkage of gene for C2 deficiency and the major histocompatibility complex MHC in man. Family study of a further case. 61 56
133535 1976
20
Hereditary C2 deficiency: Genetic studies and association with the HL-A system. 61 56
1127385 1975
21
Hereditary complement (C2) deficiency with dermatomyositis. 61 56
1090155 1975
22
Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis. 56
3118362 1987
23
Primary structure of human complement component C2. Homology to two unrelated protein families. 56
2949737 1986
24
Guinea pigs with inherited deficiencies of complement components C2 or C4 have characteristics of immune complex disease. 56
2427541 1986
25
Isolation of cDNA clones for human complement component C2. 56
6199794 1984
26
Genetics and biosynthesis of complement proteins. 56
6450325 1981
27
Homozygous deficiency of the second component of complement presenting with recurrent bacterial meningitis. 56
7436487 1980
28
Mapping of the structural gene for the second component of complement with respect to the human major histocompatibility complex. 56
312013 1979
29
Inherited deficiency of the second component of complement (C2) with membranoproliferative glomerulonephritis. 56
860727 1977
30
Genetic linkage between the HL-A system and a deficit of the second component (C2) of complement in four generations of a family. 56
1251436 1976
31
Biosynthetic defect in monocytes from human beings with genetic deficiency of the second component of complement. 56
1124106 1975
32
Inherited abnormalities of the complement system in man. 56
4911921 1970
33
Hereditary deficiency of the second component of complement in man: an immunochemical study. 56
4179558 1969
34
Inherited c'2 deficiency in man: lack of immunochemically detectable c'2 protein in serums from deficient individuals. 56
17812292 1968
35
Inborn errors of the complement system of man. 56
5337467 1967
36
Hereditary deficiency of the second component of complement (C'2) in man: further observations on a second kindred. 56
6018771 1967
37
Hereditary deficiency of the second component of complement (C'2) in man. 56
4161820 1966
38
Essential hypocomplementemia: report of a case. 56
14446782 1960
39
Gonococcal Arthritis and C2 Deficiency. 61
29102589 2019
40
Exome-based search for recurrent disease-causing alleles in Russian population. 61
31028847 2019
41
Quantification of human complement C2 protein using an automated turbidimetric immunoassay. 61
29729138 2018
42
Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies. 61
29619023 2018
43
Hereditary Heterozygous C2 Deficiency: Variable Clinical and Serological Manifestations Among Three Sisters. 61
27502238 2017
44
Niemann-Pick type C2 deficiency impairs autophagy-lysosomal activity, mitochondrial function, and TLR signaling in adipocytes. 61
27402802 2016
45
High frequency of immunodeficiency-like states in systemic lupus erythematosus: a cross-sectional study in 300 consecutive patients. 61
27274095 2016
46
Primary complement and antibody deficiencies in autoimmune rheumatologic diseases with juvenile onset: a prospective study at two centers. 61
26590091 2015
47
Recurrent invasive pneumococcal disease in children--host factors and vaccination response. 61
26183055 2015
48
Immune responses following meningococcal serogroups A, C, Y and W polysaccharide vaccination in C2-deficient persons: evidence for increased levels of serum bactericidal antibodies. 61
25707694 2015
49
Supraglottitis due to group B streptococcus in an adult with IgG4 and C2 deficiency: a case report and review of the literature. 61
25124395 2015
50
Molecular characterization of the complement C1q, C2 and C4 genes in Brazilian patients with juvenile systemic lupus erythematosus. 61
26017655 2015

Variations for Complement Component 2 Deficiency

ClinVar genetic disease variations for Complement Component 2 Deficiency:

6 (show all 46) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C2 NM_000063.6(C2):c.841_849+19deldeletion Pathogenic/Likely pathogenic 50634 rs9332736 6:31902068-31902095 6:31934289-31934316
2 C2 , CFB NM_001710.5(CFB):c.1143C>T (p.Arg381=)SNV Conflicting interpretations of pathogenicity 356285 rs150920440 6:31916713-31916713 6:31948936-31948936
3 C2 , CFB NM_000063.6(C2):c.1529G>A (p.Arg510His)SNV Conflicting interpretations of pathogenicity 356251 rs45476300 6:31911266-31911266 6:31943489-31943489
4 C2 , CFB NM_000063.6(C2):c.2080-8T>CSNV Conflicting interpretations of pathogenicity 356259 rs201806170 6:31912947-31912947 6:31945170-31945170
5 C2 , CFB NM_000063.6(C2):c.*304A>GSNV Conflicting interpretations of pathogenicity 356265 rs72842444 6:31913438-31913438 6:31945661-31945661
6 C2 , CFB NM_000063.6(C2):c.1450A>G (p.Ile484Val)SNV Conflicting interpretations of pathogenicity 356250 rs145988012 6:31911091-31911091 6:31943314-31943314
7 C2 , CFB NM_000063.6(C2):c.1414G>A (p.Ala472Thr)SNV Conflicting interpretations of pathogenicity 356249 rs142243595 6:31911055-31911055 6:31943278-31943278
8 C2 NM_000063.6(C2):c.*120T>CSNV Uncertain significance 356263 rs886061294 6:31913254-31913254 6:31945477-31945477
9 C2 NM_000063.6(C2):c.81C>T (p.Asn27=)SNV Uncertain significance 356242 rs201336507 6:31895766-31895766 6:31927989-31927989
10 C2 NM_000063.6(C2):c.*183C>TSNV Uncertain significance 356264 rs567255004 6:31913317-31913317 6:31945540-31945540
11 C2 NM_000063.6(C2):c.*82C>TSNV Uncertain significance 356262 rs747202032 6:31913216-31913216 6:31945439-31945439
12 C2 NM_001178063.2(C2):c.74-5894C>ASNV Uncertain significance 356241 rs776263411 6:31895493-31895493 6:31927716-31927716
13 C2 NM_000063.6(C2):c.313G>A (p.Gly105Arg)SNV Uncertain significance 356244 rs886061292 6:31896565-31896565 6:31928788-31928788
14 C2 NM_000063.6(C2):c.1239G>C (p.Val413=)SNV Uncertain significance 356248 rs751253087 6:31910755-31910755 6:31942978-31942978
15 C2 NM_000063.6(C2):c.1716G>C (p.Lys572Asn)SNV Uncertain significance 356253 rs376278843 6:31911569-31911569 6:31943792-31943792
16 C2 NM_000063.6(C2):c.2201G>T (p.Arg734Leu)SNV Uncertain significance 356260 rs146067615 6:31913076-31913076 6:31945299-31945299
17 C2 NM_000063.6(C2):c.2253C>T (p.Pro751=)SNV Uncertain significance 356261 rs771797450 6:31913128-31913128 6:31945351-31945351
18 C2 NM_000063.6(C2):c.988+5G>ASNV Uncertain significance 625900 rs780974763 6:31903843-31903843 6:31936066-31936066
19 C2 NM_000063.6(C2):c.1602T>C (p.Leu534=)SNV Uncertain significance 356252 rs767886405 6:31911455-31911455 6:31943678-31943678
20 C2 NM_000063.6(C2):c.1902+5G>ASNV Uncertain significance 356255 rs201711512 6:31912008-31912008 6:31944231-31944231
21 C2 NM_000063.6(C2):c.1066C>T (p.Leu356Phe)SNV Uncertain significance 356246 rs886061293 6:31905173-31905173 6:31937396-31937396
22 C2 NM_000063.6(C2):c.1130-11C>TSNV Likely benign 356247 rs117576077 6:31906997-31906997 6:31939220-31939220
23 C2 , CFB NM_001710.5(CFB):c.600C>T (p.Ser200=)SNV Likely benign 356274 rs113197809 6:31915240-31915240 6:31947463-31947463
24 C2 , CFB NM_001710.5(CFB):c.754G>A (p.Gly252Ser)SNV Likely benign 356280 rs4151651 6:31915614-31915614 6:31947837-31947837
25 C2 , CFB NM_001710.5(CFB):c.858C>T (p.Phe286=)SNV Likely benign 356281 rs117905900 6:31915819-31915819 6:31948042-31948042
26 CFB NM_001710.5(CFB):c.1697A>C (p.Glu566Ala)SNV Likely benign 225314 rs45484591 6:31918468-31918468 6:31950691-31950691
27 C2 , CFB NM_001710.5(CFB):c.405C>T (p.Tyr135=)SNV Likely benign 356271 rs4151650 6:31914890-31914890 6:31947113-31947113
28 C2 , CFB NM_001710.5(CFB):c.221G>A (p.Arg74His)SNV Likely benign 356268 rs117314762 6:31914306-31914306 6:31946529-31946529
29 C2 , CFB NM_001710.5(CFB):c.1137C>T (p.Arg379=)SNV Likely benign 356284 rs45600936 6:31916707-31916707 6:31948930-31948930
30 C2 , CFB NM_000063.6(C2):c.1922T>C (p.Val641Ala)SNV Likely benign 356257 rs36221133 6:31912523-31912523 6:31944746-31944746
31 C2 , CFB NM_001710.5(CFB):c.672C>T (p.Tyr224=)SNV Likely benign 356277 rs4151670 6:31915532-31915532 6:31947755-31947755
32 C2 , CFB NM_001710.5(CFB):c.504G>A (p.Pro168=)SNV Likely benign 356273 rs4151669 6:31915144-31915144 6:31947367-31947367
33 C2 , CFB NM_001710.5(CFB):c.1524C>T (p.His508=)SNV Likely benign 356290 rs138207668 6:31918080-31918080 6:31950303-31950303
34 C2 NM_001178063.2(C2):c.74-6002A>CSNV Likely benign 356240 rs150299426 6:31895385-31895385 6:31927608-31927608
35 C2 , CFB NM_000063.6(C2):c.2046A>G (p.Ala682=)SNV Likely benign 356258 rs45507391 6:31912773-31912773 6:31944996-31944996
36 C2 , CFB NM_000063.6(C2):c.1835G>A (p.Ser612Asn)SNV Likely benign 356254 rs573509224 6:31911936-31911936 6:31944159-31944159
37 C2 NM_000063.6(C2):c.218C>T (p.Pro73Leu)SNV Likely benign 356243 rs137902889 6:31895903-31895903 6:31928126-31928126
38 C2 , CFB NM_001710.5(CFB):c.1365C>T (p.Val455=)SNV Benign/Likely benign 356287 rs2072634 6:31917291-31917291 6:31949514-31949514
39 C2 NM_000063.6(C2):c.1023G>A (p.Ala341=)SNV Benign/Likely benign 356245 rs1042663 6:31905130-31905130 6:31937353-31937353
40 C2 NM_000063.6(C2):c.954G>C (p.Glu318Asp)SNV Benign/Likely benign 12130 rs9332739 6:31903804-31903804 6:31936027-31936027
41 C2 , CFB NM_001710.5(CFB):c.95G>A (p.Arg32Gln)SNV Benign/Likely benign 16075 rs641153 6:31914180-31914180 6:31946403-31946403
42 C2 , CFB NM_001710.5(CFB):c.1598A>G (p.Lys533Arg)SNV Benign/Likely benign 225313 rs149101394 6:31918154-31918154 6:31950377-31950377
43 C2 , CFB NM_001710.5(CFB):c.26T>A (p.Leu9His)SNV Benign/Likely benign 16077 rs4151667 6:31914024-31914024 6:31946247-31946247
44 C2 , CFB NM_000063.6(C2):c.1902+6G>CSNV Benign/Likely benign 356256 rs9332730 6:31912009-31912009 6:31944232-31944232
45 C2 , CFB NM_001710.5(CFB):c.94C>T (p.Arg32Trp)SNV Benign 16076 rs12614 6:31914179-31914179 6:31946402-31946402
46 C2 , CFB NM_001710.5(CFB):c.450A>G (p.Arg150=)SNV Benign 356272 rs1048709 6:31914935-31914935 6:31947158-31947158

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

73
# 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

Expression for Complement Component 2 Deficiency

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

Pathways for Complement Component 2 Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.9 CFH CFB C8B C4B C4A C2
2
Show member pathways
11.76 CFH CFB C8B C4B C4A C2
3 11.7 CFH CFB C4B C4A C2
4
Show member pathways
11.46 CFH CFB C8B C4B C4A C2
5 11.43 C4B C4A C2
6 11.39 VWF SERPINA1 CFH CFB C8B C4B

GO Terms for Complement Component 2 Deficiency

Cellular components related to Complement Component 2 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.81 VWF SERPINA1 EYS CFH CFB C8B
2 extracellular region GO:0005576 9.32 VWF SERPINA1 OTOA EYS CFH CFB
3 blood microparticle GO:0072562 9.26 CFH CFB C4B C4A

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 9.8 CFH CFB C8B C4B C4A C2
2 complement activation, classical pathway GO:0006958 9.67 C8B C4B C4A C2
3 copper ion transport GO:0006825 9.43 SCO2 ATP7B
4 complement activation, alternative pathway GO:0006957 9.43 CFH CFB C8B
5 regulation of complement activation GO:0030449 9.43 CFH CFB C8B C4B C4A C2
6 cellular copper ion homeostasis GO:0006878 9.4 SCO2 ATP7B
7 positive regulation of apoptotic cell clearance GO:2000427 9.33 C4B C4A C2
8 complement activation GO:0006956 9.1 CFH CFB C8B C4B C4A C2

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

# Name GO ID Score Top Affiliating Genes
1 fatty-acyl-CoA binding GO:0000062 8.96 HADHA ACADVL
2 complement binding GO:0001848 8.62 CFB C4B

Sources for Complement Component 2 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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