C2D
MCID: CMP028
MIFTS: 46

Complement Component 2 Deficiency (C2D)

Categories: Cardiovascular diseases, Genetic diseases, Immune diseases, Infectious 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 57 12 73 20 43 72 29 6 15 39 70
C2 Deficiency 57 43 72 13
C2d 57 43 72
Complement 2 Deficiency 43 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
complement component 2 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060295
OMIM® 57 217000
MeSH 44 D007105
ICD10 32 D84.1
MedGen 41 C3150275
UMLS 70 C0398756 C3150275

Summaries for Complement Component 2 Deficiency

MedlinePlus Genetics : 43 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 deficiency. An important gene associated with Complement Component 2 Deficiency is C2 (Complement C2), and among its related pathways/superpathways are Immune response Lectin induced complement pathway and Staphylococcus aureus infection. Affiliated tissues include spinal cord, skin and eye, 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.

GARD : 20 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 : 72 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 : 73 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 121)
# Related Disease Score Top Affiliating Genes
1 enterocolitis 29.9 CFH CFB
2 complement deficiency 29.8 CFH CFB C4B C4A C2
3 complement component 3 deficiency 29.4 CFH C4B C4A
4 angioedema 29.4 SERPINA1 C4B C4A
5 apolipoprotein c-ii deficiency 11.3
6 mitochondrial complex ii deficiency, nuclear type 1 11.0
7 complement factor b deficiency 10.4 CFB C2
8 systemic lupus erythematosus 10.3
9 macular degeneration, age-related, 14 10.3 CFB C2
10 bacterial infectious disease 10.3
11 vasculitis 10.3
12 lupus erythematosus 10.2
13 3-hydroxyacyl-coa dehydrogenase deficiency 10.2 HADHA ACADVL
14 atypical hemolytic uremic syndrome with complement gene abnormality 10.2 CFH CFB
15 dense deposit disease 10.2 CFH CFB
16 genetic atypical hemolytic-uremic syndrome 10.2 CFH CFB
17 c3 glomerulopathy 10.2 CFH CFB
18 macular degeneration, age-related, 6 10.2 CFH CFB
19 macular degeneration, age-related, 4 10.2 CFH CFB
20 juvenile dermatitis herpetiformis 10.1 C4B C4A
21 tick-borne relapsing fever 10.1 C4B C4A
22 carnitine palmitoyltransferase i deficiency 10.1 HADHA ACADVL
23 exanthem 10.1
24 haemophilus influenzae 10.1
25 discoid lupus erythematosus 10.1
26 acyl-coa dehydrogenase, short-chain, deficiency of 10.1 HADHA ACADVL
27 complement factor i deficiency 10.1 C4B C4A
28 pediatric systemic lupus erythematosus 10.1 C4B C4A
29 monkeypox 10.1 C4B C4A
30 epilepsy, familial temporal lobe, 2 10.0 C4B C4A
31 immunodeficiency due to a classical component pathway complement deficiency 10.0 C4B C4A C2
32 felty syndrome 10.0 C4B C4A
33 cutaneous lupus erythematosus 10.0
34 urticaria 10.0
35 glomerulonephritis 10.0
36 connective tissue disease 10.0
37 pneumococcal meningitis 10.0
38 complement component 5 deficiency 10.0 C4B C4A
39 bullous retinoschisis 10.0 CFH ARMS2
40 membranoproliferative glomerulonephritis 10.0 CFH CFB C4A
41 autoimmune disease 9.9
42 otitis media 9.9
43 myasthenia gravis 9.9
44 niemann-pick disease, type c2 9.9
45 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
46 neutropenia 9.9
47 meningitis 9.9
48 undifferentiated connective tissue disease 9.9
49 subacute cutaneous lupus erythematosus 9.9
50 steroid inherited metabolic disorder 9.9 CYP21A2 C4A

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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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
Spinal Cord, Skin, Eye, Small Intestine, Monocytes, Temporal Lobe, Lung

Publications for Complement Component 2 Deficiency

Articles related to Complement Component 2 Deficiency:

(show top 50) (show all 213)
# Title Authors PMID Year
1
Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. 6 57 61
1577763 1992
2
Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion. 57 61
8621452 1996
3
Complement factor 2 deficiency: a clinical and serological family study. 57 61
1361318 1992
4
Molecular heterogeneity of C2 deficiency. 61 57
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). 57 61
1684365 1991
6
Subacute cutaneous lupus erythematosus in multiple members of a family with C2 deficiency. 57 61
3467658 1987
7
Heterozygous C2 deficiency associated with angioedema, myasthenia gravis, and systemic lupus erythematosus. 57 61
3718019 1986
8
The molecular basis for genetic deficiency of the second component of human complement. 57 61
2582254 1985
9
Homozygous C2 deficiency, lupus erythematosus, and anti-Ro (SSA) antibodies. 61 57
6605148 1983
10
Serologic studies in a family with heterozygous C2 deficiency. 57 61
6797295 1981
11
Complement-human histocompatibility antigen haplotypes in C2 deficiency. 61 57
7462431 1981
12
Deficiency of the second component of complement. Its occurrence with membranoproliferative glomerulonephritis. 57 61
6998410 1980
13
Familial discoid lupus erythematosus associated with heterozygote C2 deficiency. 57 61
6902670 1980
14
Heterozygous C2-deficiency and myasthenia gravis. 57 61
7191069 1980
15
Studies on the C2-deficiency gene in man. 61 57
7380478 1980
16
Hereditary C2 deficiency associated with common variable immunodeficiency. 57 61
313733 1979
17
C2 deficiency and a lupus erythematosus-like illness: family re-evaluation. 61 57
434661 1979
18
Linkage relationship of C2 deficiency, HLA and glyoxalase I loci. 61 57
161677 1979
19
Homozygous C2 deficiency with fulminant lupus erythematosus: severe nephritis via the alternative complement pathway. 57 61
341897 1978
20
The chromosomal order of genes controlling the major histocompatibility complex, properdin factor B, and deficiency of the second component of complement. 61 57
993342 1976
21
Hereditary C2 deficiency: diagnosis and HLA gene complex associations. 61 57
1082903 1976
22
Linkage of gene for C2 deficiency and the major histocompatibility complex MHC in man. Family study of a further case. 61 57
133535 1976
23
Hereditary C2 deficiency: Genetic studies and association with the HL-A system. 61 57
1127385 1975
24
Hereditary complement (C2) deficiency with dermatomyositis. 57 61
1090155 1975
25
Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis. 57
3118362 1987
26
Primary structure of human complement component C2. Homology to two unrelated protein families. 57
2949737 1986
27
Guinea pigs with inherited deficiencies of complement components C2 or C4 have characteristics of immune complex disease. 57
2427541 1986
28
Isolation of cDNA clones for human complement component C2. 57
6199794 1984
29
Genetics and biosynthesis of complement proteins. 57
6450325 1981
30
Homozygous deficiency of the second component of complement presenting with recurrent bacterial meningitis. 57
7436487 1980
31
Mapping of the structural gene for the second component of complement with respect to the human major histocompatibility complex. 57
312013 1979
32
Inherited deficiency of the second component of complement (C2) with membranoproliferative glomerulonephritis. 57
860727 1977
33
Genetic linkage between the HL-A system and a deficit of the second component (C2) of complement in four generations of a family. 57
1251436 1976
34
Biosynthetic defect in monocytes from human beings with genetic deficiency of the second component of complement. 57
1124106 1975
35
Inherited abnormalities of the complement system in man. 57
4911921 1970
36
Hereditary deficiency of the second component of complement in man: an immunochemical study. 57
4179558 1969
37
Inherited c'2 deficiency in man: lack of immunochemically detectable c'2 protein in serums from deficient individuals. 57
17812292 1968
38
Inborn errors of the complement system of man. 57
5337467 1967
39
Hereditary deficiency of the second component of complement (C'2) in man: further observations on a second kindred. 57
6018771 1967
40
Hereditary deficiency of the second component of complement (C'2) in man. 57
4161820 1966
41
Essential hypocomplementemia: report of a case. 57
14446782 1960
42
Increased serum bactericidal activity of autologous serum in C2 deficiency after vaccination against Haemophilus influenzae type b, and further support for an MBL-dependent C2 bypass mechanism. 61
33509693 2021
43
Recurrent macroscopic hematuria in a pediatric patient: is it early to diagnose as having type I hereditary C2 deficiency? 61
32372346 2020
44
Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family. 61
32164349 2020
45
Inherited C2-complement deficiency: variable clinical manifestation (case reports and review). 61
32942894 2020
46
Gonococcal Arthritis and C2 Deficiency. 61
29102589 2019
47
Exome-based search for recurrent disease-causing alleles in Russian population. 61
31028847 2019
48
Quantification of human complement C2 protein using an automated turbidimetric immunoassay. 61
29729138 2018
49
Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies. 61
29619023 2018
50
Hereditary Heterozygous C2 Deficiency: Variable Clinical and Serological Manifestations Among Three Sisters. 61
27502238 2017

Variations for Complement Component 2 Deficiency

ClinVar genetic disease variations for Complement Component 2 Deficiency:

6 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFB , C2 NM_000063.6(C2):c.1360+1G>A SNV Pathogenic 369516 rs140225293 GRCh37: 6:31910877-31910877
GRCh38: 6:31943100-31943100
2 C2 NM_000063.6(C2):c.839_849del (p.Met280fs) Deletion Likely pathogenic 915386 GRCh37: 6:31902066-31902076
GRCh38: 6:31934289-31934299
3 C2 NM_000063.6(C2):c.841_849+19del Deletion Likely pathogenic 50634 rs9332736 GRCh37: 6:31902068-31902095
GRCh38: 6:31934289-31934316
4 C2 NM_000063.6(C2):c.1399A>C (p.Asn467His) SNV Uncertain significance 973621 GRCh37: 6:31911040-31911040
GRCh38: 6:31943263-31943263
5 C2 NM_000063.6(C2):c.849+59G>A SNV Uncertain significance 992548 GRCh37: 6:31902135-31902135
GRCh38: 6:31934358-31934358
6 C2 NM_000063.6(C2):c.2171C>T (p.Pro724Leu) SNV Uncertain significance 1032161 GRCh37: 6:31913046-31913046
GRCh38: 6:31945269-31945269
7 C2 NM_000063.6(C2):c.73C>T (p.Pro25Ser) SNV Uncertain significance 904584 GRCh37: 6:31895758-31895758
GRCh38: 6:31927981-31927981
8 C2 NM_000063.6(C2):c.109C>T (p.Leu37Phe) SNV Uncertain significance 904585 GRCh37: 6:31895794-31895794
GRCh38: 6:31928017-31928017
9 C2 NM_000063.6(C2):c.149C>T (p.Ser50Phe) SNV Uncertain significance 904586 GRCh37: 6:31895834-31895834
GRCh38: 6:31928057-31928057
10 C2-AS1 , C2 NM_000063.6(C2):c.980A>G (p.Asn327Ser) SNV Uncertain significance 904652 GRCh37: 6:31903830-31903830
GRCh38: 6:31936053-31936053
11 C2 NM_000063.6(C2):c.1613C>T (p.Ala538Val) SNV Uncertain significance 904727 GRCh37: 6:31911466-31911466
GRCh38: 6:31943689-31943689
12 C2 NM_000063.6(C2):c.1902+5G>A SNV Uncertain significance 356255 rs201711512 GRCh37: 6:31912008-31912008
GRCh38: 6:31944231-31944231
13 C2 NM_000063.6(C2):c.*183C>T SNV Uncertain significance 356264 rs567255004 GRCh37: 6:31913317-31913317
GRCh38: 6:31945540-31945540
14 C2-AS1 , C2 NM_000063.6(C2):c.988+5G>A SNV Uncertain significance 625900 rs780974763 GRCh37: 6:31903843-31903843
GRCh38: 6:31936066-31936066
15 C2 NM_000063.6(C2):c.*286T>C SNV Uncertain significance 904797 GRCh37: 6:31913420-31913420
GRCh38: 6:31945643-31945643
16 C2 NM_000063.6(C2):c.245C>T (p.Ala82Val) SNV Uncertain significance 905372 GRCh37: 6:31895930-31895930
GRCh38: 6:31928153-31928153
17 C2 NM_000063.6(C2):c.283T>G (p.Phe95Val) SNV Uncertain significance 905373 GRCh37: 6:31896535-31896535
GRCh38: 6:31928758-31928758
18 C2 NM_000063.6(C2):c.337G>A (p.Val113Met) SNV Uncertain significance 905374 GRCh37: 6:31896589-31896589
GRCh38: 6:31928812-31928812
19 C2-AS1 , C2 NM_000063.6(C2):c.1082C>T (p.Thr361Met) SNV Uncertain significance 905441 GRCh37: 6:31905189-31905189
GRCh38: 6:31937412-31937412
20 C2-AS1 , C2 NM_000063.6(C2):c.1109C>T (p.Ala370Val) SNV Uncertain significance 905442 GRCh37: 6:31905216-31905216
GRCh38: 6:31937439-31937439
21 C2-AS1 , C2 NM_000063.6(C2):c.1169A>C (p.Asp390Ala) SNV Uncertain significance 905443 GRCh37: 6:31907047-31907047
GRCh38: 6:31939270-31939270
22 C2 NM_000063.6(C2):c.1981G>A (p.Asp661Asn) SNV Uncertain significance 905517 GRCh37: 6:31912582-31912582
GRCh38: 6:31944805-31944805
23 C2 NM_000063.6(C2):c.1413C>T (p.Asn471=) SNV Uncertain significance 905958 GRCh37: 6:31911054-31911054
GRCh38: 6:31943277-31943277
24 C2 NM_000063.6(C2):c.2200C>T (p.Arg734Cys) SNV Uncertain significance 906027 GRCh37: 6:31913075-31913075
GRCh38: 6:31945298-31945298
25 C2 NM_000063.6(C2):c.386G>A (p.Arg129His) SNV Uncertain significance 906979 GRCh37: 6:31896638-31896638
GRCh38: 6:31928861-31928861
26 C2 NM_000063.6(C2):c.442+15T>G SNV Uncertain significance 906980 GRCh37: 6:31896709-31896709
GRCh38: 6:31928932-31928932
27 C2 NM_000063.6(C2):c.443-4G>A SNV Uncertain significance 906981 GRCh37: 6:31901383-31901383
GRCh38: 6:31933606-31933606
28 C2 NM_000063.6(C2):c.749C>G (p.Ser250Cys) SNV Uncertain significance 906982 GRCh37: 6:31901976-31901976
GRCh38: 6:31934199-31934199
29 C2 NM_000063.6(C2):c.*141C>T SNV Uncertain significance 907047 GRCh37: 6:31913275-31913275
GRCh38: 6:31945498-31945498
30 C2 NM_000063.6(C2):c.-36G>A SNV Uncertain significance 907891 GRCh37: 6:31895494-31895494
GRCh38: 6:31927717-31927717
31 C2 NM_000063.6(C2):c.-21G>A SNV Uncertain significance 907892 GRCh37: 6:31895509-31895509
GRCh38: 6:31927732-31927732
32 C2 NM_000063.6(C2):c.819C>T (p.Phe273=) SNV Uncertain significance 907956 GRCh37: 6:31902046-31902046
GRCh38: 6:31934269-31934269
33 C2-AS1 , C2 NM_000063.6(C2):c.913C>T (p.Leu305Phe) SNV Uncertain significance 907957 GRCh37: 6:31903763-31903763
GRCh38: 6:31935986-31935986
34 C2-AS1 , C2 NM_000063.6(C2):c.929A>G (p.Asn310Ser) SNV Uncertain significance 907958 GRCh37: 6:31903779-31903779
GRCh38: 6:31936002-31936002
35 C2-AS1 , C2 NM_000063.6(C2):c.936C>G (p.Asn312Lys) SNV Uncertain significance 907959 GRCh37: 6:31903786-31903786
GRCh38: 6:31936009-31936009
36 CFB , C2 NM_000063.6(C2):c.1577A>G (p.Lys526Arg) SNV Uncertain significance 908037 GRCh37: 6:31911430-31911430
GRCh38: 6:31943653-31943653
37 C2 NM_000063.6(C2):c.2201G>T (p.Arg734Leu) SNV Uncertain significance 356260 rs146067615 GRCh37: 6:31913076-31913076
GRCh38: 6:31945299-31945299
38 C2 NM_000063.6(C2):c.1239G>C (p.Val413=) SNV Uncertain significance 356248 rs751253087 GRCh37: 6:31910755-31910755
GRCh38: 6:31942978-31942978
39 C2 NM_000063.6(C2):c.1716G>C (p.Lys572Asn) SNV Uncertain significance 356253 rs376278843 GRCh37: 6:31911569-31911569
GRCh38: 6:31943792-31943792
40 C2 NM_000063.6(C2):c.2253C>T (p.Pro751=) SNV Uncertain significance 356261 rs771797450 GRCh37: 6:31913128-31913128
GRCh38: 6:31945351-31945351
41 CFB , C2 NM_000063.6(C2):c.1450A>G (p.Ile484Val) SNV Uncertain significance 356250 rs145988012 GRCh37: 6:31911091-31911091
GRCh38: 6:31943314-31943314
42 C2 NM_000063.6(C2):c.313G>A (p.Gly105Arg) SNV Uncertain significance 356244 rs886061292 GRCh37: 6:31896565-31896565
GRCh38: 6:31928788-31928788
43 C2 NM_000063.6(C2):c.81C>T (p.Asn27=) SNV Uncertain significance 356242 rs201336507 GRCh37: 6:31895766-31895766
GRCh38: 6:31927989-31927989
44 CFB , C2 NM_000063.6(C2):c.2080-8T>C SNV Uncertain significance 356259 rs201806170 GRCh37: 6:31912947-31912947
GRCh38: 6:31945170-31945170
45 CFB , C2 NM_000063.6(C2):c.1414G>A (p.Ala472Thr) SNV Uncertain significance 356249 rs142243595 GRCh37: 6:31911055-31911055
GRCh38: 6:31943278-31943278
46 C2 NM_001178063.3(C2):c.74-5894C>A SNV Uncertain significance 356241 rs776263411 GRCh37: 6:31895493-31895493
GRCh38: 6:31927716-31927716
47 C2-AS1 , C2 NM_000063.6(C2):c.1130-11C>T SNV Uncertain significance 356247 rs117576077 GRCh37: 6:31906997-31906997
GRCh38: 6:31939220-31939220
48 C2 NM_000063.6(C2):c.*120T>C SNV Uncertain significance 356263 rs886061294 GRCh37: 6:31913254-31913254
GRCh38: 6:31945477-31945477
49 C2 NM_000063.6(C2):c.1602T>C (p.Leu534=) SNV Uncertain significance 356252 rs767886405 GRCh37: 6:31911455-31911455
GRCh38: 6:31943678-31943678
50 C2 NM_000063.6(C2):c.218C>T (p.Pro73Leu) SNV Uncertain significance 356243 rs137902889 GRCh37: 6:31895903-31895903
GRCh38: 6:31928126-31928126

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

72
# 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
11.83 CFH CFB C8B C4B C4A C2
2 11.7 CFH CFB C4B C4A C2
3
Show member pathways
11.59 CFH CFB C8B C4B C4A C2
4
Show member pathways
11.56 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 space GO:0005615 9.86 VWF SERPINA1 CFH CFB C8B C4B
2 extracellular exosome GO:0070062 9.81 VWF SERPINA1 EYS CFH CFB C8B
3 extracellular region GO:0005576 9.65 VWF SERPINA1 OTOA EYS CFH CFB
4 blood microparticle GO:0072562 8.92 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 immune system process GO:0002376 9.88 CFH CFB C8B C4B C4A C2
2 innate immune response GO:0045087 9.8 CFH CFB C8B C4B C4A C2
3 complement activation, classical pathway GO:0006958 9.67 C8B C4B C4A C2
4 copper ion transport GO:0006825 9.46 SCO2 ATP7B
5 cellular copper ion homeostasis GO:0006878 9.43 SCO2 ATP7B
6 complement activation, alternative pathway GO:0006957 9.43 CFH CFB C8B
7 regulation of complement activation GO:0030449 9.43 CFH CFB C8B C4B C4A C2
8 positive regulation of apoptotic cell clearance GO:2000427 9.33 C4B C4A C2
9 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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