IMD12
MCID: IMM071
MIFTS: 42

Immunodeficiency 12 (IMD12)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 12

MalaCards integrated aliases for Immunodeficiency 12:

Name: Immunodeficiency 12 57 12 72 29 6 15 70
Imd12 57 12 72
Combined Immunodeficiency Due to Malt1 Deficiency 12 58
Immunodeficiency, Type 12 39

Characteristics:

Orphanet epidemiological data:

58
combined immunodeficiency due to malt1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

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

Miscellaneous:
one patient from a consanguineous lebanese family and one patient from a consanguineous kurdish family have been reported (last curated april 2014)
death may occur in late childhood


HPO:

31
immunodeficiency 12:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111988
OMIM® 57 615468
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D81.8
Orphanet 58 ORPHA397964
UMLS 70 C3809583

Summaries for Immunodeficiency 12

UniProtKB/Swiss-Prot : 72 Immunodeficiency 12: A primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay. Manifestations include mastoiditis, aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis, duodenitis, and meningitis. Levels of absolute lymphocytes and serum immunoglobulins are normal, but specific antibody titers are low despite immunization, and T-cells show impaired proliferative responses to mitogens.

MalaCards based summary : Immunodeficiency 12, also known as imd12, is related to immunodeficiency, common variable, 12, with autoimmunity and cardiac sarcoidosis. An important gene associated with Immunodeficiency 12 is MALT1 (MALT1 Paracaspase), and among its related pathways/superpathways are Metabolism of proteins and Developmental Biology. Affiliated tissues include t cells and bone, and related phenotypes are delayed skeletal maturation and osteoporosis

Disease Ontology : 12 A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has material basis in homozygous or compound heterozygous mutation in MALT1 on chromosome 18q21.32.

More information from OMIM: 615468 PS300755

Related Diseases for Immunodeficiency 12

Diseases related to Immunodeficiency 12 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 12, with autoimmunity 11.0
2 cardiac sarcoidosis 10.0 PSMB9 PSMB8
3 bare lymphocyte syndrome, type i 9.9 PSMB9 PSMB8
4 panniculitis 9.8 PSMB9 PSMB8

Symptoms & Phenotypes for Immunodeficiency 12

Human phenotypes related to Immunodeficiency 12:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 occasional (7.5%) HP:0002750
2 osteoporosis 31 occasional (7.5%) HP:0000939
3 immunodeficiency 31 HP:0002721
4 growth delay 31 HP:0001510
5 recurrent bacterial infections 31 HP:0002718
6 recurrent viral infections 31 HP:0004429

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Immunology:
recurrent bacterial infections
recurrent viral infections
primary immunodeficiency
poor antibody response
opportunistic infections
more
Skeletal:
delayed bone age (1 patient)
osteoporosis (1 patient)

Growth Other:
poor growth

Clinical features from OMIM®:

615468 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 12 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.56 MALT1 TUBB4A
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.56 MALT1 PSMB10 PSMB8 PSMB9 PSME1 TUBB4A
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.28 PSMB10 PSMB8 PSMB9 PSME1
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 PSMB10 PSMB8 PSMB9 PSME1 TUBB4A

MGI Mouse Phenotypes related to Immunodeficiency 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.02 PSMB8 PSMB9 PSME1 PSME2 TYRP1

Drugs & Therapeutics for Immunodeficiency 12

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 12

Genetic Tests for Immunodeficiency 12

Genetic tests related to Immunodeficiency 12:

# Genetic test Affiliating Genes
1 Immunodeficiency 12 29 MALT1

Anatomical Context for Immunodeficiency 12

MalaCards organs/tissues related to Immunodeficiency 12:

40
T Cells, Bone

Publications for Immunodeficiency 12

Articles related to Immunodeficiency 12:

# Title Authors PMID Year
1
Combined immunodeficiency associated with homozygous MALT1 mutations. 57 6
24332264 2014
2
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. 57 6
23727036 2013
3
Asthma as aetiology of bronchiectasis in Finland. 61
31128603 2019
4
Use of Galactomannan Antigen and Aspergillus DNA Real-time Polymerase Chain Reaction as Routine Methods for Invasive Aspergillosis in Immunosuppressed Children in Greece. 61
29807668 2018
5
[Estimation of glomerular filtration rate in adults with common variable immunodeficiency treated with intravenous immunoglobulin. What formula should we use?]. 61
24915615 2014
6
Common variable immunodeficiency and idiopathic primary hypogammaglobulinemia: two different conditions within the same disease spectrum. 61
23753020 2013
7
The utility of surgical lung biopsy in immunocompromised children. 61
22817907 2013
8
[Antibody deficiencies. A survey from three Clinical Immunology Centers for adults in Buenos Aires city]. 61
21893448 2011
9
[Treatment of immune thrombocytopenic purpura in Pediatrics. Therapeutic efficacy of a regional intravenous immunoglobulin G]. 61
11721317 2001
10
Clostridial infection in children. 61
7869351 1995

Variations for Immunodeficiency 12

ClinVar genetic disease variations for Immunodeficiency 12:

6 (show top 50) (show all 96)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MALT1 NM_006785.4(MALT1):c.266G>T (p.Ser89Ile) SNV Pathogenic 66089 rs398123058 GRCh37: 18:56348458-56348458
GRCh38: 18:58681226-58681226
2 MALT1 NM_006785.4(MALT1):c.1739G>C (p.Trp580Ser) SNV Pathogenic 127139 rs587777337 GRCh37: 18:56409232-56409232
GRCh38: 18:58742000-58742000
3 MALT1 NC_000018.10:g.(?_58671624)_(58747862_?)del Deletion Pathogenic 831577 GRCh37: 18:56338856-56415094
GRCh38:
4 MALT1 NM_006785.4(MALT1):c.571C>T (p.Arg191Ter) SNV Pathogenic 636343 rs1266114717 GRCh37: 18:56367745-56367745
GRCh38: 18:58700513-58700513
5 MALT1 NM_006785.4(MALT1):c.1321del (p.Cys441fs) Deletion Pathogenic 935699 GRCh37: 18:56400727-56400727
GRCh38: 18:58733495-58733495
6 MALT1 NM_006785.4(MALT1):c.611dup (p.Gln205fs) Duplication Pathogenic 662739 rs1602300615 GRCh37: 18:56367784-56367785
GRCh38: 18:58700552-58700553
7 MALT1 NM_006785.4(MALT1):c.596_599dup (p.Phe200fs) Duplication Pathogenic 971304 GRCh37: 18:56367769-56367770
GRCh38: 18:58700537-58700538
8 MALT1 NM_006785.4(MALT1):c.649+9C>T SNV Conflicting interpretations of pathogenicity 474596 rs200919386 GRCh37: 18:56367832-56367832
GRCh38: 18:58700600-58700600
9 MALT1 NM_006785.4(MALT1):c.2191C>G (p.Leu731Val) SNV Uncertain significance 1030155 GRCh37: 18:56414790-56414790
GRCh38: 18:58747558-58747558
10 MALT1-AS1 , MALT1 NM_006785.4(MALT1):c.133C>G (p.Leu45Val) SNV Uncertain significance 1031677 GRCh37: 18:56339008-56339008
GRCh38: 18:58671776-58671776
11 MALT1 NM_006785.4(MALT1):c.1401-15G>T SNV Uncertain significance 1031678 GRCh37: 18:56401524-56401524
GRCh38: 18:58734292-58734292
12 MALT1 NM_006785.4(MALT1):c.2273A>G (p.His758Arg) SNV Uncertain significance 1031679 GRCh37: 18:56414872-56414872
GRCh38: 18:58747640-58747640
13 MALT1-AS1 , MALT1 NM_006785.4(MALT1):c.67G>A (p.Ala23Thr) SNV Uncertain significance 1031680 GRCh37: 18:56338942-56338942
GRCh38: 18:58671710-58671710
14 MALT1 NM_006785.4(MALT1):c.1912-6T>G SNV Uncertain significance 1034634 GRCh37: 18:56412892-56412892
GRCh38: 18:58745660-58745660
15 MALT1 NM_006785.4(MALT1):c.1875A>G (p.Ile625Met) SNV Uncertain significance 1036816 GRCh37: 18:56411691-56411691
GRCh38: 18:58744459-58744459
16 MALT1 NM_006785.4(MALT1):c.950G>A (p.Cys317Tyr) SNV Uncertain significance 1038698 GRCh37: 18:56378177-56378177
GRCh38: 18:58710945-58710945
17 MALT1 NM_006785.4(MALT1):c.2117A>G (p.Asn706Ser) SNV Uncertain significance 1038861 GRCh37: 18:56414716-56414716
GRCh38: 18:58747484-58747484
18 MALT1 NM_006785.4(MALT1):c.1898C>T (p.Thr633Ile) SNV Uncertain significance 1039623 GRCh37: 18:56411714-56411714
GRCh38: 18:58744482-58744482
19 MALT1 NM_006785.4(MALT1):c.1359A>C (p.Glu453Asp) SNV Uncertain significance 1043644 GRCh37: 18:56400765-56400765
GRCh38: 18:58733533-58733533
20 MALT1 NM_006785.4(MALT1):c.878A>C (p.Tyr293Ser) SNV Uncertain significance 1047216 GRCh37: 18:56377257-56377257
GRCh38: 18:58710025-58710025
21 MALT1 NM_006785.4(MALT1):c.379A>G (p.Ile127Val) SNV Uncertain significance 1047643 GRCh37: 18:56363600-56363600
GRCh38: 18:58696368-58696368
22 MALT1 NM_006785.4(MALT1):c.1417A>T (p.Thr473Ser) SNV Uncertain significance 1047833 GRCh37: 18:56401555-56401555
GRCh38: 18:58734323-58734323
23 MALT1 NM_006785.4(MALT1):c.2195T>C (p.Met732Thr) SNV Uncertain significance 658035 rs141329024 GRCh37: 18:56414794-56414794
GRCh38: 18:58747562-58747562
24 MALT1-AS1 , MALT1 NM_006785.4(MALT1):c.41C>G (p.Ser14Trp) SNV Uncertain significance 848660 GRCh37: 18:56338916-56338916
GRCh38: 18:58671684-58671684
25 MALT1 NM_006785.4(MALT1):c.841G>A (p.Asp281Asn) SNV Uncertain significance 855404 GRCh37: 18:56377220-56377220
GRCh38: 18:58709988-58709988
26 MALT1 NM_006785.4(MALT1):c.641G>T (p.Ser214Ile) SNV Uncertain significance 855534 GRCh37: 18:56367815-56367815
GRCh38: 18:58700583-58700583
27 MALT1 NM_006785.4(MALT1):c.853C>G (p.Gln285Glu) SNV Uncertain significance 862645 GRCh37: 18:56377232-56377232
GRCh38: 18:58710000-58710000
28 MALT1 NM_006785.4(MALT1):c.1750C>T (p.His584Tyr) SNV Uncertain significance 934243 GRCh37: 18:56409243-56409243
GRCh38: 18:58742011-58742011
29 MALT1 NM_006785.4(MALT1):c.806A>G (p.His269Arg) SNV Uncertain significance 935215 GRCh37: 18:56376766-56376766
GRCh38: 18:58709534-58709534
30 MALT1 NM_006785.4(MALT1):c.2386_2400dup (p.Cys796_Arg800dup) Duplication Uncertain significance 944224 GRCh37: 18:56414983-56414984
GRCh38: 18:58747751-58747752
31 MALT1-AS1 , MALT1 NM_006785.4(MALT1):c.25C>G (p.Gln9Glu) SNV Uncertain significance 1054228 GRCh37: 18:56338900-56338900
GRCh38: 18:58671668-58671668
32 MALT1 NM_006785.4(MALT1):c.745G>C (p.Val249Leu) SNV Uncertain significance 1054719 GRCh37: 18:56376705-56376705
GRCh38: 18:58709473-58709473
33 MALT1-AS1 , MALT1 NM_006785.4(MALT1):c.75G>A (p.Pro25=) SNV Uncertain significance 1055404 GRCh37: 18:56338950-56338950
GRCh38: 18:58671718-58671718
34 MALT1-AS1 , MALT1 NM_006785.4(MALT1):c.26A>G (p.Gln9Arg) SNV Uncertain significance 1055735 GRCh37: 18:56338901-56338901
GRCh38: 18:58671669-58671669
35 MALT1-AS1 , MALT1 NM_006785.4(MALT1):c.136G>A (p.Asp46Asn) SNV Uncertain significance 1059387 GRCh37: 18:56339011-56339011
GRCh38: 18:58671779-58671779
36 MALT1 NM_006785.4(MALT1):c.1753+4C>T SNV Uncertain significance 1059962 GRCh37: 18:56409250-56409250
GRCh38: 18:58742018-58742018
37 MALT1 NM_006785.4(MALT1):c.1061G>C (p.Arg354Pro) SNV Uncertain significance 1000964 GRCh37: 18:56390322-56390322
GRCh38: 18:58723090-58723090
38 MALT1-AS1 , MALT1 NM_006785.4(MALT1):c.42G>A (p.Ser14=) SNV Uncertain significance 1005757 GRCh37: 18:56338917-56338917
GRCh38: 18:58671685-58671685
39 MALT1 NM_006785.4(MALT1):c.1018+6T>G SNV Uncertain significance 1008126 GRCh37: 18:56383205-56383205
GRCh38: 18:58715973-58715973
40 MALT1 NM_006785.4(MALT1):c.2341C>T (p.Arg781Trp) SNV Uncertain significance 1008799 GRCh37: 18:56414940-56414940
GRCh38: 18:58747708-58747708
41 MALT1 NM_006785.4(MALT1):c.2351A>T (p.Asp784Val) SNV Uncertain significance 541509 rs904452707 GRCh37: 18:56414950-56414950
GRCh38: 18:58747718-58747718
42 MALT1-AS1 , MALT1 NM_006785.4(MALT1):c.53C>T (p.Thr18Met) SNV Uncertain significance 652056 rs1602263180 GRCh37: 18:56338928-56338928
GRCh38: 18:58671696-58671696
43 MALT1 NM_006785.4(MALT1):c.2200A>G (p.Asn734Asp) SNV Uncertain significance 837903 GRCh37: 18:56414799-56414799
GRCh38: 18:58747567-58747567
44 MALT1 NM_006785.4(MALT1):c.446G>A (p.Arg149Gln) SNV Uncertain significance 838949 GRCh37: 18:56363667-56363667
GRCh38: 18:58696435-58696435
45 MALT1 NM_006785.4(MALT1):c.2320G>C (p.Ala774Pro) SNV Uncertain significance 851077 GRCh37: 18:56414919-56414919
GRCh38: 18:58747687-58747687
46 MALT1 NM_006785.4(MALT1):c.899A>G (p.Asp300Gly) SNV Uncertain significance 972590 GRCh37: 18:56377278-56377278
GRCh38: 18:58710046-58710046
47 MALT1 NM_006785.4(MALT1):c.664G>A (p.Val222Ile) SNV Uncertain significance 1025051 GRCh37: 18:56376624-56376624
GRCh38: 18:58709392-58709392
48 MALT1 NM_006785.4(MALT1):c.475C>A (p.Gln159Lys) SNV Uncertain significance 1025958 GRCh37: 18:56363696-56363696
GRCh38: 18:58696464-58696464
49 MALT1 NM_006785.4(MALT1):c.824A>G (p.Tyr275Cys) SNV Uncertain significance 541508 rs145169756 GRCh37: 18:56376784-56376784
GRCh38: 18:58709552-58709552
50 MALT1 NM_006785.4(MALT1):c.1238C>T (p.Ala413Val) SNV Uncertain significance 579357 rs146860698 GRCh37: 18:56400644-56400644
GRCh38: 18:58733412-58733412

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 12:

72
# Symbol AA change Variation ID SNP ID
1 MALT1 p.Ser89Ile VAR_070857 rs398123058

Expression for Immunodeficiency 12

Search GEO for disease gene expression data for Immunodeficiency 12.

Pathways for Immunodeficiency 12

Pathways related to Immunodeficiency 12 according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 TUBB4A PSME2 PSME1 PSMB9 PSMB8 PSMB10
2
Show member pathways
13.25 PSME2 PSME1 PSMB9 PSMB8 PSMB10 H2BC21
3
Show member pathways
13.19 PSME2 PSME1 PSMB9 PSMB8 PSMB10 MALT1
4
Show member pathways
13.18 TUBB4A PSME2 PSME1 PSMB9 PSMB8 PSMB10
5
Show member pathways
13.12 PSME2 PSME1 PSMB9 PSMB8 PSMB10
6
Show member pathways
13.09 PSME2 PSME1 PSMB9 PSMB8 PSMB10
7
Show member pathways
12.97 TUBB4A PSME2 PSME1 PSMB9 PSMB8 PSMB10
8
Show member pathways
12.92 PSME2 PSME1 PSMB9 PSMB8 PSMB10 H2BC21
9
Show member pathways
12.64 PSME2 PSME1 PSMB9 PSMB8 PSMB10
10
Show member pathways
12.61 PSME2 PSME1 PSMB9 PSMB8 PSMB10 H2BC21
11
Show member pathways
12.52 PSME2 PSME1 PSMB9 PSMB8 PSMB10 H2BC21
12
Show member pathways
12.39 PSME2 PSME1 PSMB9 PSMB8 PSMB10
13
Show member pathways
12.37 PSME2 PSME1 PSMB9 PSMB8 PSMB10 MALT1
14
Show member pathways
12.35 PSME2 PSME1 PSMB9 PSMB8 PSMB10
15
Show member pathways
12.25 PSME2 PSME1 PSMB9 PSMB8 PSMB10
16
Show member pathways
12.2 PSME2 PSME1 PSMB9 PSMB8 PSMB10 H2BC21
17 12.17 PSMB9 PSMB8 PSMB10
18 11.88 PSMB9 PSMB8 PSMB10
19
Show member pathways
11.84 PSME2 PSME1 PSMB9 PSMB8 PSMB10 MALT1
20 11.48 PSMB9 PSMB8 PSMB10
21
Show member pathways
11.45 PSME2 PSME1 PSMB9 PSMB8 PSMB10 MALT1

GO Terms for Immunodeficiency 12

Cellular components related to Immunodeficiency 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.02 TUBB4A PSME2 PSME1 PSMB9 PSMB8 PSMB10
2 extracellular exosome GO:0070062 9.88 TUBB4A PSME2 PSME1 PSMB9 PSMB8 H2BC21
3 proteasome core complex GO:0005839 9.43 PSMB9 PSMB8 PSMB10
4 proteasome core complex, beta-subunit complex GO:0019774 9.33 PSMB9 PSMB8 PSMB10
5 proteasome activator complex GO:0008537 9.32 PSME2 PSME1
6 spermatoproteasome complex GO:1990111 9.13 PSMB9 PSMB8 PSMB10
7 proteasome complex GO:0000502 9.02 PSME2 PSME1 PSMB9 PSMB8 PSMB10

Biological processes related to Immunodeficiency 12 according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.03 PSME2 PSME1 PSMB9 PSMB8 PSMB10
2 post-translational protein modification GO:0043687 10.02 PSME2 PSME1 PSMB9 PSMB8 PSMB10
3 MAPK cascade GO:0000165 10 PSME2 PSME1 PSMB9 PSMB8 PSMB10
4 protein polyubiquitination GO:0000209 10 PSME2 PSME1 PSMB9 PSMB8 PSMB10
5 protein deubiquitination GO:0016579 9.99 PSME2 PSME1 PSMB9 PSMB8 PSMB10
6 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.98 PSME2 PSME1 PSMB9 PSMB8 PSMB10
7 negative regulation of canonical Wnt signaling pathway GO:0090090 9.97 PSME2 PSME1 PSMB9 PSMB8 PSMB10
8 positive regulation of canonical Wnt signaling pathway GO:0090263 9.97 PSME2 PSME1 PSMB9 PSMB8 PSMB10
9 tumor necrosis factor-mediated signaling pathway GO:0033209 9.96 PSME2 PSME1 PSMB9 PSMB8 PSMB10
10 proteolysis GO:0006508 9.95 PSMB9 PSMB8 PSMB10 MALT1
11 regulation of mRNA stability GO:0043488 9.95 PSME2 PSME1 PSMB9 PSMB8 PSMB10
12 interleukin-1-mediated signaling pathway GO:0070498 9.93 PSME2 PSME1 PSMB9 PSMB8 PSMB10
13 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.92 PSME2 PSME1 PSMB9 PSMB8 PSMB10
14 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.91 PSME2 PSME1 PSMB9 PSMB8 PSMB10
15 anaphase-promoting complex-dependent catabolic process GO:0031145 9.89 PSME2 PSME1 PSMB9 PSMB8 PSMB10
16 regulation of mitotic cell cycle phase transition GO:1901990 9.88 PSME2 PSME1 PSMB9 PSMB8 PSMB10
17 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.85 PSME2 PSME1 PSMB9 PSMB8 PSMB10
18 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.83 PSME2 PSME1 PSMB9 PSMB8 PSMB10
19 proteolysis involved in cellular protein catabolic process GO:0051603 9.8 PSMB9 PSMB8 PSMB10
20 NIK/NF-kappaB signaling GO:0038061 9.8 PSME2 PSME1 PSMB9 PSMB8 PSMB10
21 T cell receptor signaling pathway GO:0050852 9.8 PSME2 PSME1 PSMB9 PSMB8 PSMB10 MALT1
22 proteasomal ubiquitin-independent protein catabolic process GO:0010499 9.79 PSMB9 PSMB8 PSMB10
23 regulation of hematopoietic stem cell differentiation GO:1902036 9.77 PSME2 PSME1 PSMB9 PSMB8 PSMB10
24 Fc-epsilon receptor signaling pathway GO:0038095 9.73 PSME2 PSME1 PSMB9 PSMB8 PSMB10 MALT1
25 T cell proliferation GO:0042098 9.65 PSMB10 MALT1
26 regulation of proteasomal protein catabolic process GO:0061136 9.64 PSME2 PSME1
27 regulation of G1/S transition of mitotic cell cycle GO:2000045 9.64 PSME2 PSME1
28 positive regulation of endopeptidase activity GO:0010950 9.63 PSME2 PSME1
29 negative regulation of G2/M transition of mitotic cell cycle GO:0010972 9.55 PSME2 PSME1 PSMB9 PSMB8 PSMB10
30 regulation of cellular amino acid metabolic process GO:0006521 9.35 PSME2 PSME1 PSMB9 PSMB8 PSMB10
31 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.1 PSME2 PSME1 PSMB9 PSMB8 PSMB10 MALT1

Molecular functions related to Immunodeficiency 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.56 PSMB9 PSMB8 PSMB10 MALT1
2 endopeptidase activator activity GO:0061133 9.16 PSME2 PSME1
3 endopeptidase activity GO:0004175 9.13 PSMB9 PSMB8 PSMB10
4 threonine-type endopeptidase activity GO:0004298 8.8 PSMB9 PSMB8 PSMB10

Sources for Immunodeficiency 12

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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