DKCA3
MCID: DYS147
MIFTS: 45

Dyskeratosis Congenita, Autosomal Dominant 3 (DKCA3)

Categories: Blood diseases, Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dyskeratosis Congenita, Autosomal Dominant 3

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Dominant 3:

Name: Dyskeratosis Congenita, Autosomal Dominant 3 57 13
Dyskeratosis Congenita, Autosomal Dominant, 3 72 29 6 70
Dkca3 57 12 72
Autosomal Dominant Dyskeratosis Congenita 3 12 15
Dyskeratosis Congenita, Autosomal Dominant, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype and severity, even within families
age at onset ranges from childhood to adulthood
phenotypic overlap with revesz syndrome


HPO:

31
dyskeratosis congenita, autosomal dominant 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Dyskeratosis Congenita, Autosomal Dominant 3

OMIM® : 57 Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (127550). (613990) (Updated 05-Apr-2021)

MalaCards based summary : Dyskeratosis Congenita, Autosomal Dominant 3, also known as dyskeratosis congenita, autosomal dominant, 3, is related to dyskeratosis congenita, autosomal dominant 1 and revesz syndrome, and has symptoms including dry skin and cerebellar ataxia. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 3 is TINF2 (TERF1 Interacting Nuclear Factor 2), and among its related pathways/superpathways are Developmental Biology and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include bone marrow and bone, and related phenotypes are ataxia and cerebral calcification

Disease Ontology : 12 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.

UniProtKB/Swiss-Prot : 72 Dyskeratosis congenita, autosomal dominant, 3: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.

Related Diseases for Dyskeratosis Congenita, Autosomal Dominant 3

Graphical network of the top 20 diseases related to Dyskeratosis Congenita, Autosomal Dominant 3:



Diseases related to Dyskeratosis Congenita, Autosomal Dominant 3

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Dominant 3

Human phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 3:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 cerebral calcification 31 HP:0002514
3 hearing impairment 31 HP:0000365
4 delayed speech and language development 31 HP:0000750
5 microcephaly 31 HP:0000252
6 short stature 31 HP:0004322
7 retinopathy 31 HP:0000488
8 cryptorchidism 31 HP:0000028
9 dry skin 31 HP:0000958
10 osteoporosis 31 HP:0000939
11 intrauterine growth retardation 31 HP:0001511
12 alopecia 31 HP:0001596
13 thrombocytopenia 31 HP:0001873
14 pulmonary fibrosis 31 HP:0002206
15 premature graying of hair 31 HP:0002216
16 fine hair 31 HP:0002213
17 cerebellar hypoplasia 31 HP:0001321
18 nail dysplasia 31 HP:0002164
19 oral leukoplakia 31 HP:0002745
20 bone marrow hypocellularity 31 HP:0005528
21 leukopenia 31 HP:0001882
22 reticulated skin pigmentation 31 HP:0007427
23 epiphora 31 HP:0009926
24 aplastic anemia 31 HP:0001915

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Head And Neck Eyes:
retinopathy
epiphora
blockage of the lacrimal ducts

Skin Nails Hair Skin:
dry skin
leukoplakia
reticular pigmentation pattern

Growth Other:
intrauterine growth retardation
poor growth

Hematology:
thrombocytopenia
pancytopenia
leukopenia
aplastic anemia
bone marrow failure
more
Neurologic Central Nervous System:
cerebellar hypoplasia
cerebellar ataxia
intracranial calcifications
speech delay
learning difficulties

Head And Neck Ears:
deafness

Laboratory Abnormalities:
shortened telomeres
decreased telomerase activity

Neoplasia:
increased risk of malignancy

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal:
osteoporosis

Skin Nails Hair Hair:
alopecia
premature greying
short, fine hair

Respiratory Lung:
pulmonary fibrosis
pulmonary failure

Head And Neck Mouth:
oral leukoplakia

Skin Nails Hair Nails:
dysplastic nails

Head And Neck Teeth:
tooth loss

Skeletal Limbs:
avascular necrosis of the hip (2 patients)

Clinical features from OMIM®:

613990 (Updated 05-Apr-2021)

UMLS symptoms related to Dyskeratosis Congenita, Autosomal Dominant 3:


dry skin; cerebellar ataxia

GenomeRNAi Phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.17 PLK1
2 Decreased substrate adherent cell growth GR00193-A-2 9.17 PLK1 RPS6KA1 RPS6KA2
3 Decreased substrate adherent cell growth GR00193-A-3 9.17 PLK1
4 Decreased substrate adherent cell growth GR00193-A-4 9.17 PLK1 RPS6KA1
5 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.13 RPS6KA2 RPS6KA3 RPS6KA6

MGI Mouse Phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.1 KCNN1 KCNN3 MED28 RPS6KA3 TERF1 TINF2

Drugs & Therapeutics for Dyskeratosis Congenita, Autosomal Dominant 3

Search Clinical Trials , NIH Clinical Center for Dyskeratosis Congenita, Autosomal Dominant 3

Genetic Tests for Dyskeratosis Congenita, Autosomal Dominant 3

Genetic tests related to Dyskeratosis Congenita, Autosomal Dominant 3:

# Genetic test Affiliating Genes
1 Dyskeratosis Congenita, Autosomal Dominant, 3 29 TINF2

Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 3

MalaCards organs/tissues related to Dyskeratosis Congenita, Autosomal Dominant 3:

40
Bone Marrow, Bone

Publications for Dyskeratosis Congenita, Autosomal Dominant 3

Articles related to Dyskeratosis Congenita, Autosomal Dominant 3:

# Title Authors PMID Year
1
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. 57 6
21477109 2012
2
Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2. 57 6
21199492 2012
3
Ataxia and pancytopenia caused by a mutation in TINF2. 57 6
18979121 2008
4
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. 57 6
18669893 2008
5
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. 6 57
18252230 2008
6
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 6
29483670 2018
7
TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase. 6
21536674 2011
8
Dyskeratosis congenita: a genetic disorder of many faces. 57
18005359 2008

Variations for Dyskeratosis Congenita, Autosomal Dominant 3

ClinVar genetic disease variations for Dyskeratosis Congenita, Autosomal Dominant 3:

6 (show all 47)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TINF2 NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) SNV Pathogenic 5624 rs121918543 GRCh37: 14:24709848-24709848
GRCh38: 14:24240642-24240642
2 TINF2 NM_001099274.3(TINF2):c.845G>A (p.Arg282His) SNV Pathogenic 5625 rs121918544 GRCh37: 14:24709841-24709841
GRCh38: 14:24240635-24240635
3 TINF2 NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) SNV Pathogenic 5626 rs121918545 GRCh37: 14:24709842-24709842
GRCh38: 14:24240636-24240636
4 TINF2 NM_001099274.3(TINF2):c.805C>T (p.Gln269Ter) SNV Pathogenic 31541 rs387907153 GRCh37: 14:24709881-24709881
GRCh38: 14:24240675-24240675
5 TINF2 NM_001099274.3(TINF2):c.811C>T (p.Gln271Ter) SNV Pathogenic 31543 rs387907154 GRCh37: 14:24709875-24709875
GRCh38: 14:24240669-24240669
6 TINF2 NM_001099274.3(TINF2):c.826del (p.Arg276fs) Deletion Pathogenic 37090 rs863223324 GRCh37: 14:24709860-24709860
GRCh38: 14:24240654-24240654
7 TINF2 NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) SNV Pathogenic 5627 rs121918545 GRCh37: 14:24709842-24709842
GRCh38: 14:24240636-24240636
8 TINF2 NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) SNV Likely pathogenic 417880 rs1060499576 GRCh37: 14:24711458-24711458
GRCh38: 14:24242252-24242252
9 TINF2 NM_001099274.3(TINF2):c.1292del (p.Pro431fs) Deletion Likely pathogenic 646280 rs770529422 GRCh37: 14:24709067-24709067
GRCh38: 14:24239861-24239861
10 TINF2 NM_001099274.3(TINF2):c.503A>G (p.Gln168Arg) SNV Uncertain significance 977087 GRCh37: 14:24710414-24710414
GRCh38: 14:24241208-24241208
11 TINF2 NM_001099274.3(TINF2):c.494_502del (p.Pro165_Ala167del) Deletion Uncertain significance 992554 GRCh37: 14:24710415-24710423
GRCh38: 14:24241209-24241217
12 TINF2 NM_001099274.3(TINF2):c.-277C>G SNV Uncertain significance 312967 rs886050435 GRCh37: 14:24711815-24711815
GRCh38: 14:24242609-24242609
13 TINF2 NM_001099274.3(TINF2):c.-50A>G SNV Uncertain significance 312958 rs886050432 GRCh37: 14:24711588-24711588
GRCh38: 14:24242382-24242382
14 TINF2 NM_001099274.3(TINF2):c.*53G>A SNV Uncertain significance 312944 rs886050429 GRCh37: 14:24708950-24708950
GRCh38: 14:24239744-24239744
15 TINF2 NM_001099274.3(TINF2):c.-93T>C SNV Uncertain significance 312960 rs886050433 GRCh37: 14:24711631-24711631
GRCh38: 14:24242425-24242425
16 TINF2 NM_001099274.3(TINF2):c.-223C>G SNV Uncertain significance 312963 rs886050434 GRCh37: 14:24711761-24711761
GRCh38: 14:24242555-24242555
17 TINF2 NM_001099274.3(TINF2):c.1074T>C (p.Asp358=) SNV Uncertain significance 312948 rs886050430 GRCh37: 14:24709524-24709524
GRCh38: 14:24240318-24240318
18 TINF2 NM_001099274.3(TINF2):c.30A>G (p.Ala10=) SNV Uncertain significance 882334 GRCh37: 14:24711509-24711509
GRCh38: 14:24242303-24242303
19 TINF2 NM_001099274.3(TINF2):c.-130A>G SNV Uncertain significance 882601 GRCh37: 14:24711668-24711668
GRCh38: 14:24242462-24242462
20 TINF2 NM_001099274.3(TINF2):c.622T>C (p.Ser208Pro) SNV Uncertain significance 882556 GRCh37: 14:24710064-24710064
GRCh38: 14:24240858-24240858
21 TINF2 NM_001099274.3(TINF2):c.607T>C (p.Cys203Arg) SNV Uncertain significance 883336 GRCh37: 14:24710079-24710079
GRCh38: 14:24240873-24240873
22 TINF2 NM_001099274.3(TINF2):c.517G>A (p.Val173Met) SNV Uncertain significance 863456 GRCh37: 14:24710313-24710313
GRCh38: 14:24241107-24241107
23 TINF2 NM_001099274.3(TINF2):c.-233T>G SNV Uncertain significance 883384 GRCh37: 14:24711771-24711771
GRCh38: 14:24242565-24242565
24 TINF2 NM_001099274.3(TINF2):c.*33C>T SNV Likely benign 880922 GRCh37: 14:24708970-24708970
GRCh38: 14:24239764-24239764
25 TINF2 NM_001099274.3(TINF2):c.-161G>A SNV Likely benign 312961 rs577503785 GRCh37: 14:24711699-24711699
GRCh38: 14:24242493-24242493
26 TINF2 NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val) SNV Likely benign 662182 rs369249473 GRCh37: 14:24709052-24709052
GRCh38: 14:24239846-24239846
27 TINF2 NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn) SNV Likely benign 846888 GRCh37: 14:24710962-24710962
GRCh38: 14:24241756-24241756
28 TINF2 NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) SNV Likely benign 312956 rs202093758 GRCh37: 14:24711465-24711465
GRCh38: 14:24242259-24242259
29 TGM1 , TINF2 NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) SNV Likely benign 38918 rs199422322 GRCh37: 14:24709845-24709845
GRCh38: 14:24240639-24240639
30 TINF2 NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) SNV Likely benign 38915 rs199422321 GRCh37: 14:24709980-24709980
GRCh38: 14:24240774-24240774
31 TINF2 NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) SNV Likely benign 38916 rs142777869 GRCh37: 14:24709952-24709952
GRCh38: 14:24240746-24240746
32 TINF2 NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) SNV Benign 312951 rs17102313 GRCh37: 14:24709976-24709976
GRCh38: 14:24240770-24240770
33 TINF2 NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) SNV Benign 312947 rs184422577 GRCh37: 14:24709506-24709506
GRCh38: 14:24240300-24240300
34 TINF2 NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) SNV Benign 312946 rs10141326 GRCh37: 14:24709351-24709351
GRCh38: 14:24240145-24240145
35 TINF2 NM_001099274.3(TINF2):c.-225G>A SNV Benign 312964 rs35781178 GRCh37: 14:24711763-24711763
GRCh38: 14:24242557-24242557
36 TINF2 NM_001099274.3(TINF2):c.-172A>C SNV Benign 312962 rs11557911 GRCh37: 14:24711710-24711710
GRCh38: 14:24242504-24242504
37 TINF2 NM_001099274.3(TINF2):c.-260G>C SNV Benign 312965 rs28372734 GRCh37: 14:24711798-24711798
GRCh38: 14:24242592-24242592
38 TINF2 NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) SNV Benign 312955 rs189265179 GRCh37: 14:24710921-24710921
GRCh38: 14:24241715-24241715
39 TINF2 NM_001099274.3(TINF2):c.771C>T (p.His257=) SNV Benign 312949 rs75124018 GRCh37: 14:24709915-24709915
GRCh38: 14:24240709-24240709
40 TINF2 NM_001099274.3(TINF2):c.*91T>C SNV Benign 312943 rs183352266 GRCh37: 14:24708912-24708912
GRCh38: 14:24239706-24239706
41 TINF2 NM_001099274.3(TINF2):c.-266G>A SNV Benign 312966 rs35886534 GRCh37: 14:24711804-24711804
GRCh38: 14:24242598-24242598
42 TINF2 NM_001099274.3(TINF2):c.-91C>T SNV Benign 312959 rs36124829 GRCh37: 14:24711629-24711629
GRCh38: 14:24242423-24242423
43 TINF2 NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) SNV Benign 312957 rs367835995 GRCh37: 14:24711477-24711477
GRCh38: 14:24242271-24242271
44 TINF2 NM_001099274.3(TINF2):c.507+5C>T SNV Benign 312953 rs761308889 GRCh37: 14:24710405-24710405
GRCh38: 14:24241199-24241199
45 TINF2 NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) SNV Benign 238288 rs117234138 GRCh37: 14:24709123-24709123
GRCh38: 14:24239917-24239917
46 TINF2 NM_001099274.3(TINF2):c.253C>G (p.His85Asp) SNV Benign 880974 GRCh37: 14:24711140-24711140
GRCh38: 14:24241934-24241934
47 TINF2 NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) SNV Benign 312945 rs201083863 GRCh37: 14:24709069-24709069
GRCh38: 14:24239863-24239863

UniProtKB/Swiss-Prot genetic disease variations for Dyskeratosis Congenita, Autosomal Dominant 3:

72
# Symbol AA change Variation ID SNP ID
1 TINF2 p.Lys280Glu VAR_043914 rs121918543
2 TINF2 p.Arg282His VAR_043915 rs121918544
3 TINF2 p.Arg282Ser VAR_043916 rs121918545

Expression for Dyskeratosis Congenita, Autosomal Dominant 3

Search GEO for disease gene expression data for Dyskeratosis Congenita, Autosomal Dominant 3.

Pathways for Dyskeratosis Congenita, Autosomal Dominant 3

Pathways related to Dyskeratosis Congenita, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 TGM1 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 MED28
2
Show member pathways
13.26 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PTPA CASP7
3
Show member pathways
12.91 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PTPA
4 12.64 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 CASP7
5
Show member pathways
12.57 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
6
Show member pathways
12.43 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PTPA
7
Show member pathways
12.39 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
8
Show member pathways
12.37 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
9
Show member pathways
12.25 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 CASP7
10
Show member pathways
12.22 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
11
Show member pathways
12.16 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PLK1
12
Show member pathways
12.13 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
13
Show member pathways
12.09 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
14
Show member pathways
12.08 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 KCNN4 KCNN3
15
Show member pathways
12.06 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
16 12.03 RPS6KA3 RPS6KA2 RPS6KA1
17
Show member pathways
12 KCNN4 KCNN3 KCNN2 KCNN1
18 11.96 RPS6KA3 RPS6KA1 KCNN2
19
Show member pathways
11.95 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
20 11.93 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
21
Show member pathways
11.89 RPS6KA3 RPS6KA2 RPS6KA1
22
Show member pathways
11.87 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
23 11.85 RPS6KA3 RPS6KA2 RPS6KA1
24
Show member pathways
11.8 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
25
Show member pathways
11.76 RPS6KA3 RPS6KA2 RPS6KA1
26
Show member pathways
11.75 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 GAP43
27
Show member pathways
11.56 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
28 11.43 KCNN4 KCNN3 KCNN2 KCNN1
29
Show member pathways
11.4 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PTPA
30 11.07 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1

GO Terms for Dyskeratosis Congenita, Autosomal Dominant 3

Cellular components related to Dyskeratosis Congenita, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.85 TINF2 TERF1 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
2 neuron projection GO:0043005 9.62 KCNN4 KCNN3 KCNN2 KCNN1
3 neuronal cell body GO:0043025 9.56 KCNN4 KCNN3 KCNN2 KCNN1
4 nuclear telomere cap complex GO:0000783 8.96 TINF2 TERF1
5 shelterin complex GO:0070187 8.62 TINF2 TERF1

Biological processes related to Dyskeratosis Congenita, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.8 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PLK1
2 protein phosphorylation GO:0006468 9.77 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PLK1
3 potassium ion transport GO:0006813 9.56 KCNN4 KCNN3 KCNN2 KCNN1
4 telomere capping GO:0016233 9.46 TINF2 TERF1
5 potassium ion transmembrane transport GO:0071805 9.46 KCNN4 KCNN3 KCNN2 KCNN1
6 negative regulation of telomere maintenance via telomerase GO:0032211 9.43 TINF2 TERF1
7 regulation of DNA-templated transcription in response to stress GO:0043620 9.32 RPS6KA3 RPS6KA1
8 peptidyl-serine phosphorylation GO:0018105 9.02 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PLK1
9 regulation of translation in response to stress GO:0043555 8.96 RPS6KA3 RPS6KA1

Molecular functions related to Dyskeratosis Congenita, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.41 TINF2 TGM1 TERF1 RPS6KA6 RPS6KA3 RPS6KA2
2 kinase activity GO:0016301 9.83 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PLK1
3 protein kinase activity GO:0004672 9.8 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PLK1
4 protein serine/threonine kinase activity GO:0004674 9.77 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PLK1
5 magnesium ion binding GO:0000287 9.72 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1 PLK1
6 calmodulin binding GO:0005516 9.65 KCNN4 KCNN3 KCNN2 KCNN1 GAP43
7 protein serine/threonine/tyrosine kinase activity GO:0004712 9.51 RPS6KA2 RPS6KA1
8 telomeric DNA binding GO:0042162 9.49 TINF2 TERF1
9 cysteine-type endopeptidase inhibitor activity involved in apoptotic process GO:0043027 9.46 RPS6KA3 RPS6KA1
10 calcium-activated potassium channel activity GO:0015269 9.46 KCNN4 KCNN3 KCNN2 KCNN1
11 ribosomal protein S6 kinase activity GO:0004711 9.26 RPS6KA6 RPS6KA3 RPS6KA2 RPS6KA1
12 small conductance calcium-activated potassium channel activity GO:0016286 8.92 KCNN4 KCNN3 KCNN2 KCNN1

Sources for Dyskeratosis Congenita, Autosomal Dominant 3

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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