FANCD2
MCID: FNC042
MIFTS: 54

Fanconi Anemia, Complementation Group D2 (FANCD2)

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

Aliases & Classifications for Fanconi Anemia, Complementation Group D2

MalaCards integrated aliases for Fanconi Anemia, Complementation Group D2:

Name: Fanconi Anemia, Complementation Group D2 57 29 13 6 39 70
Fanconi Anemia Complementation Group D2 12 72 15
Fancd2 57 12 72
Fad2 57 12 72
Fa4 57 12 72
Fanconi Pancytopenia Type 4 12 72
Fancd 57 72
Fanconi Anemia, Complementation Group D; Fancd; Facd 57
Fanconi Anemia, Complementation Group D 57
Fanconi Anemia Complementation Group D 72
Fanconi Pancytopenia, Type 4; Fa4 57
Fanconi Pancytopenia, Type 4 57
Facd 72

Characteristics:

OMIM®:

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


HPO:

31
fanconi anemia, complementation group d2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group D2

OMIM® : 57 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (227646) (Updated 05-Apr-2021)

MalaCards based summary : Fanconi Anemia, Complementation Group D2, also known as fanconi anemia complementation group d2, is related to fanconi anemia, complementation group b and fanconi anemia, complementation group i, and has symptoms including anemic pallor An important gene associated with Fanconi Anemia, Complementation Group D2 is FANCD2 (FA Complementation Group D2), and among its related pathways/superpathways are DNA Damage and BRCA1 Pathway. Affiliated tissues include bone marrow, breast and kidney, and related phenotypes are intellectual disability and agenesis of corpus callosum

Disease Ontology : 12 A Fanconi anemia that has material basis in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.

UniProtKB/Swiss-Prot : 72 Fanconi anemia complementation group D2: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Related Diseases for Fanconi Anemia, Complementation Group D2

Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group G
Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group V
Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group U
Fanconi Anemia, Complementation Group W Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group D2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group b 32.0 FANCD2 FANCB FANCA
2 fanconi anemia, complementation group i 32.0 H2AC18 FANCD2 FANCA
3 fanconi anemia, complementation group e 32.0 FANCD2 FANCA
4 sporadic breast cancer 32.0 RAD51 FANCD2 BRCA2
5 fanconi anemia, complementation group f 31.9 FANCD2 FANCA BRCA2
6 nijmegen breakage syndrome 31.9 RAD51 H2AC18 FANCD2 FANCB
7 esophageal atresia 31.9 FANCD2 FANCB FANCA
8 fanconi anemia, complementation group c 31.8 FANCD2 FANCB FANCA
9 fanconi anemia, complementation group v 31.8 FANCD2 FANCB FANCA
10 fanconi anemia, complementation group o 31.8 FANCD2 FANCB FANCA
11 fanconi anemia, complementation group u 31.7 FANCD2 FANCB FANCA
12 fanconi anemia, complementation group r 31.7 RAD51 FANCD2 FANCB FANCA
13 fanconi anemia, complementation group q 31.7 FANCD2 FANCB FANCA
14 fanconi anemia, complementation group t 31.7 H2AC18 FANCD2 FANCB FANCA
15 fanconi anemia, complementation group p 31.7 H2AC18 FANCD2 FANCB FANCA
16 xeroderma pigmentosum, variant type 31.7 RAD51 H2AC18 FANCD2 FANCA BRCA2
17 fanconi anemia, complementation group n 31.6 H2AC18 FANCD2 FANCB FANCA BRCA2
18 fanconi anemia, complementation group j 31.6 RAD51 H2AC18 FANCD2 FANCB FANCA BRCA2
19 seckel syndrome 31.6 RAD51 H2AC18 FANCD2 FANCA BRCA2
20 aplastic anemia 31.4 RAD51 IL3 H2AC18 FANCD2 FANCB FANCA
21 deficiency anemia 31.0 IL3 H2AC18 FANCD2 FANCB FANCA BRCA2
22 fanconi anemia, complementation group d1 30.8 RAD51 H2AC18 FANCD2 FANCB FANCA BRCA2
23 fanconi anemia, complementation group a 30.4 SCD RAD51 MBOAT2 LOC107303338 IL3 H2AC18
24 bloom syndrome 30.2 RAD51 FANCA BRCA2
25 leukemia, acute myeloid 30.0 RAD51 PRODH IL3 H2AC18 FANCA BRCA2
26 breast cancer 11.2
27 ovarian cancer 11.1
28 ataxia-telangiectasia 11.1
29 myelodysplastic syndrome 11.0
30 squamous cell carcinoma, head and neck 11.0
31 fanconi anemia, complementation group l 11.0
32 xeroderma pigmentosum, complementation group f 10.8
33 interstitial nephritis, karyomegalic 10.8
34 dyskeratosis congenita 10.8
35 orbit embryonal rhabdomyosarcoma 10.8
36 orbit rhabdomyosarcoma 10.8
37 pituitary stalk interruption syndrome 10.8
38 fetal akinesia deformation sequence 4 10.3 SCD FADS2
39 felty syndrome 10.3 IL3 H2AC18
40 b-lymphoblastic leukemia/lymphoma 10.2 IL3 H2AC18 BRCA2
41 autosomal recessive disease 10.2
42 microphthalmia 10.2
43 adenocarcinoma 10.2
44 plasmacytoma 10.2
45 von hippel-lindau syndrome 10.2 LOC107303341 LOC107303340 LOC107303339 LOC107303338 LOC107303337 H2AC18
46 fetal akinesia deformation sequence 1 10.2 SCD PRODH FADS2 DGAT1
47 autosomal genetic disease 10.2 RAD51 PRODH H2AC18 BRCA2
48 cerebellar disease 10.2 RAD51 PRODH H2AC18 FANCB BRCA2
49 blood platelet disease 10.1 PRODH IL3 H2AC18
50 allergic disease 10.1

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group D2:



Diseases related to Fanconi Anemia, Complementation Group D2

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group D2

Human phenotypes related to Fanconi Anemia, Complementation Group D2:

31 (show all 49)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 agenesis of corpus callosum 31 very rare (1%) HP:0001274
3 hydrocephalus 31 very rare (1%) HP:0000238
4 hearing impairment 31 very rare (1%) HP:0000365
5 hypertelorism 31 very rare (1%) HP:0000316
6 microcephaly 31 very rare (1%) HP:0000252
7 strabismus 31 very rare (1%) HP:0000486
8 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
9 low-set ears 31 very rare (1%) HP:0000369
10 horseshoe kidney 31 very rare (1%) HP:0000085
11 micropenis 31 very rare (1%) HP:0000054
12 microphthalmia 31 very rare (1%) HP:0000568
13 patent ductus arteriosus 31 very rare (1%) HP:0001643
14 tracheoesophageal fistula 31 very rare (1%) HP:0002575
15 renal duplication 31 very rare (1%) HP:0000075
16 pelvic kidney 31 very rare (1%) HP:0000125
17 blepharophimosis 31 very rare (1%) HP:0000581
18 preaxial hand polydactyly 31 very rare (1%) HP:0001177
19 short thumb 31 very rare (1%) HP:0009778
20 hypotelorism 31 very rare (1%) HP:0000601
21 partial duplication of thumb phalanx 31 very rare (1%) HP:0009944
22 abnormality of skin pigmentation 31 very rare (1%) HP:0001000
23 esophageal atresia 31 very rare (1%) HP:0002032
24 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
25 hypergonadotropic hypogonadism 31 very rare (1%) HP:0000815
26 bone marrow hypocellularity 31 very rare (1%) HP:0005528
27 annular pancreas 31 very rare (1%) HP:0001734
28 cafe-au-lait spot 31 very rare (1%) HP:0000957
29 absent radius 31 very rare (1%) HP:0003974
30 small for gestational age 31 very rare (1%) HP:0001518
31 absent thumb 31 very rare (1%) HP:0009777
32 aplasia of the 1st metacarpal 31 very rare (1%) HP:0010035
33 short stature 31 HP:0004322
34 anemia 31 HP:0001903
35 cryptorchidism 31 HP:0000028
36 thrombocytopenia 31 HP:0001873
37 leukemia 31 HP:0001909
38 neutropenia 31 HP:0001875
39 bruising susceptibility 31 HP:0000978
40 complete duplication of thumb phalanx 31 HP:0009943
41 abnormal heart morphology 31 HP:0001627
42 renal agenesis 31 HP:0000104
43 pancytopenia 31 HP:0001876
44 duplicated collecting system 31 HP:0000081
45 reticulocytopenia 31 HP:0001896
46 anemic pallor 31 HP:0001017
47 deficient excision of uv-induced pyrimidine dimers in dna 31 HP:0003213
48 prolonged g2 phase of cell cycle 31 HP:0003214
49 chromosomal breakage induced by crosslinking agents 31 HP:0003221

Symptoms via clinical synopsis from OMIM®:

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

Head And Neck Eyes:
strabismus
microphthalmia

Genitourinary Kidneys:
horseshoe kidney
duplicated collecting system
renal ectopia
absent kidney
kidney malformation
more
Skin Nails Hair Skin:
anemic pallor
hyperpigmentation
cafe-au-lait spots
bruisability
pigmentary changes

Head And Neck Ears:
deafness
ear anomaly

Neurologic Central Nervous System:
mental retardation

Growth Weight:
low birth weight

Hematology:
anemia
thrombocytopenia
neutropenia
pancytopenia
reticulocytopenia
more
Genitourinary External Genitalia Male:
cryptorchidism
hypergonadotropic hypogonadism

Neoplasia:
leukemia

Laboratory Abnormalities:
deficient excision of uv-induced pyrimidine dimers in dna
prolonged g2 phase of cell cycle
multiple chromosomal breaks
chromosomal breakage induced by diepoxybutane (deb), and mitomycin c

Cardiovascular Heart:
congenital heart defect

Skeletal Hands:
radial aplasia
thumb hypoplasia
thumb deformity
thumb aplasia
duplicated thumb

Growth Height:
small stature

Clinical features from OMIM®:

227646 (Updated 05-Apr-2021)

UMLS symptoms related to Fanconi Anemia, Complementation Group D2:


anemic pallor

Drugs & Therapeutics for Fanconi Anemia, Complementation Group D2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Identification of de Novo Fanconi Anemia Patients Using FANCD2 Western Blots Completed NCT01146210
2 A Study on the Homologous Recombination Deficiency Status in Chinese Population With Epithelial Ovarian Cancer Recruiting NCT04190667

Search NIH Clinical Center for Fanconi Anemia, Complementation Group D2

Genetic Tests for Fanconi Anemia, Complementation Group D2

Genetic tests related to Fanconi Anemia, Complementation Group D2:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group D2 29 FANCD2

Anatomical Context for Fanconi Anemia, Complementation Group D2

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group D2:

40
Bone Marrow, Breast, Kidney, Bone, Lung, Heart, Pancreas

Publications for Fanconi Anemia, Complementation Group D2

Articles related to Fanconi Anemia, Complementation Group D2:

(show top 50) (show all 893)
# Title Authors PMID Year
1
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. 61 57 6
17436244 2007
2
Positional cloning of a novel Fanconi anemia gene, FANCD2. 57 6 61
11239453 2001
3
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes. 61 6
25168418 2014
4
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 6 61
23613520 2013
5
Fancd2 functions in a double strand break repair pathway that is distinct from non-homologous end joining. 57 61
16135554 2005
6
Knockdown of zebrafish Fancd2 causes developmental abnormalities via p53-dependent apoptosis. 61 57
14667412 2003
7
Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice. 61 57
12893777 2003
8
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
9
Fanconi anemia: at the crossroads of DNA repair. 57
21568838 2011
10
A DNA double strand break repair defect in Fanconi anemia fibroblasts. 57
12361951 2002
11
Structural basis of FANCD2 deubiquitination by USP1-UAF1. 61
33795880 2021
12
Exploiting synthetic lethality to target BRCA1/2-deficient tumors: where we stand. 61
33716297 2021
13
Fanconi anemia and mTOR pathways functionally interact during stalled replication fork recovery. 61
33423298 2021
14
Targeting CX3CR1 Suppresses the Fanconi Anemia DNA Repair Pathway and Synergizes with Platinum. 61
33810010 2021
15
WNT inhibition creates a BRCA-like state in Wnt-addicted cancer. 61
33660437 2021
16
An unexpected butadiene diolepoxide-mediated genotoxicity implies alternative mechanism for 1,3-butadiene carcinogenicity. 61
33310515 2021
17
Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression. 61
33804295 2021
18
Structure of the FA core ubiquitin ligase closing the ID clamp on DNA. 61
33686268 2021
19
Network Analysis Identifies Drug Targets and Small Molecules to Modulate Apoptosis Resistant Cancers. 61
33670487 2021
20
The proximal proteome of 17 SARS-CoV-2 proteins links to disrupted antiviral signaling and host translation. 61
33655243 2021
21
FANCD2 and HES1 suppress inflammation-induced PPARɣ to prevent haematopoietic stem cell exhaustion. 61
33222180 2021
22
SLX4-XPF mediates DNA damage responses to replication stress induced by DNA-protein interactions. 61
33347546 2021
23
FANCD2 modulates the mitochondrial stress response to prevent common fragile site instability. 61
33514811 2021
24
FANCD2 knockdown with shRNA interference enhances the ionizing radiation sensitivity of nasopharyngeal carcinoma CNE-2 cells. 61
32940045 2021
25
Comprehensive Analysis of Ferroptosis Regulators in Lung Adenocarcinomas Identifies Prognostic and Immunotherapy-Related Biomarkers. 61
33778001 2021
26
SLFN11 promotes stalled fork degradation that underlies the phenotype in Fanconi anemia cells. 61
32735670 2021
27
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency. 61
33512438 2021
28
Melphalan and Exportin 1 Inhibitors Exert Synergistic Antitumor Effects in Preclinical Models of Human Multiple Myeloma. 61
33023948 2020
29
Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer. 61
33328484 2020
30
The forkhead box M1 (FOXM1) expression and antitumor effect of FOXM1 inhibition in malignant rhabdoid tumor. 61
33221995 2020
31
Loss of Mitochondrial Localization of Human FANCG Causes Defective FANCJ Helicase. 61
32989015 2020
32
Evidence for functional and regulatory cross-talk between Wnt/β-catenin signalling and Mre11-Rad50-Nbs1 complex in the repair of cisplatin-induced DNA cross-links. 61
33216839 2020
33
Two replication fork remodeling pathways generate nuclease substrates for distinct fork protection factors. 61
33188024 2020
34
Integrative genomics and pathway analysis identified prevalent FA-BRCA pathway alterations in arsenic-associated urinary bladder carcinoma: Chronic arsenic accumulation in cancer tissues hampers the FA-BRCA pathway. 61
32920123 2020
35
TFG-maintaining stability of overlooked FANCD2 confers early DNA-damage response. 61
33099537 2020
36
Structural insight into FANCI-FANCD2 monoubiquitination. 61
32725171 2020
37
Inactivation of ribosomal protein S27-like impairs DNA interstrand cross-link repair by destabilization of FANCD2 and FANCI. 61
33051438 2020
38
The ubiquitination machinery of the Fanconi Anemia DNA repair pathway. 61
33058944 2020
39
The synergistic proapoptotic effect of PARP-1 and HDAC inhibition in cutaneous T-cell lymphoma is mediated via Blimp-1. 61
33017467 2020
40
Novel TALEN-generated mCitrine-FANCD2 fusion reporter mouse model for in vivo research of DNA damage response. 61
32717583 2020
41
Acetylation modulates the Fanconi anemia pathway by protecting FAAP20 from ubiquitin-mediated proteasomal degradation. 61
32763975 2020
42
FANCD2 Confers a Malignant Phenotype in Esophageal Squamous Cell Carcinoma by Regulating Cell Cycle Progression. 61
32906798 2020
43
DNA Replication Stress Induced by Trifluridine Determines Tumor Cell Fate According to p53 Status. 61
32467171 2020
44
Activation of DNA damage repair factors in HPV positive oropharyngeal cancers. 61
32560902 2020
45
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report. 61
32867815 2020
46
Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis. 61
32488392 2020
47
A new survival model based on ferroptosis-related genes for prognostic prediction in clear cell renal cell carcinoma. 61
32688345 2020
48
Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene. 61
32563974 2020
49
WRNIP1 Is Recruited to DNA Interstrand Crosslinks and Promotes Repair. 61
32640220 2020
50
Differential functions of FANCI and FANCD2 ubiquitination stabilize ID2 complex on DNA. 61
32510829 2020

Variations for Fanconi Anemia, Complementation Group D2

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group D2:

6 (show top 50) (show all 179)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FANCD2 FANCD2, 376A-G Insertion Pathogenic 12039 GRCh37:
GRCh38:
2 FANCD2 FANCD2, EX17 DEL Deletion Pathogenic 12042 GRCh37:
GRCh38:
3 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.206-2A>T SNV Pathogenic 929641 GRCh37: 3:10076151-10076151
GRCh38: 3:10034467-10034467
4 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly) SNV Pathogenic 929642 GRCh37: 3:10076481-10076481
GRCh38: 3:10034797-10034797
5 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.692T>G (p.Leu231Arg) SNV Pathogenic 929643 GRCh37: 3:10081526-10081526
GRCh38: 3:10039842-10039842
6 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.696-121C>G SNV Pathogenic 929644 GRCh37: 3:10083186-10083186
GRCh38: 3:10041502-10041502
7 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.696-2A>T SNV Pathogenic 929645 GRCh37: 3:10083305-10083305
GRCh38: 3:10041621-10041621
8 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) SNV Pathogenic 929646 GRCh37: 3:10083393-10083393
GRCh38: 3:10041709-10041709
9 FANCD2 NC_000003.12:g.(10041711_10042558)_(10043865_10046579)dup Duplication Pathogenic 929647 GRCh37: 3:10083395-10088263
GRCh38:
10 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.1092G>A (p.Trp364Ter) SNV Pathogenic 929649 GRCh37: 3:10085270-10085270
GRCh38: 3:10043586-10043586
11 FANCD2 NM_001018115.3(FANCD2):c.2T>C (p.Met1Thr) SNV Pathogenic 929652 GRCh37: 3:10070343-10070343
GRCh38: 3:10028659-10028659
12 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro) SNV Pathogenic 929655 GRCh37: 3:10089692-10089692
GRCh38: 3:10048008-10048008
13 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.1414-69_1545+258del Deletion Pathogenic 929656 GRCh37: 3:10090986-10091444
GRCh38: 3:10049302-10049760
14 FANCD2 NC_000003.12:g.(10048052_10049373)_(10049506_10052386)del Deletion Pathogenic 929657 GRCh37: 3:10089736-10094070
GRCh38:
15 FANCD2 NC_000003.12:g.(10049506_10052386)_(10052498_10060293)del Deletion Pathogenic 929658 GRCh37: 3:10091190-10101977
GRCh38:
16 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.1948-16T>G SNV Pathogenic 929659 GRCh37: 3:10106024-10106024
GRCh38: 3:10064340-10064340
17 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.1948-6C>A SNV Pathogenic 929660 GRCh37: 3:10106034-10106034
GRCh38: 3:10064350-10064350
18 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter) SNV Pathogenic 929661 GRCh37: 3:10108911-10108911
GRCh38: 3:10067227-10067227
19 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.2661del (p.Glu888fs) Deletion Pathogenic 929662 GRCh37: 3:10114991-10114991
GRCh38: 3:10073307-10073307
20 FANCD2 , FANCD2OS NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs) Deletion Pathogenic 929666 GRCh37: 3:10128933-10128936
GRCh38: 3:10087249-10087252
21 FANCD2 , FANCD2OS NM_001018115.3(FANCD2):c.3599del (p.Ile1200fs) Deletion Pathogenic 929667 GRCh37: 3:10130550-10130550
GRCh38: 3:10088866-10088866
22 FANCD2 , FANCD2OS NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser) SNV Pathogenic 929668 GRCh37: 3:10131998-10131998
GRCh38: 3:10090314-10090314
23 FANCD2 , FANCD2OS NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter) SNV Pathogenic 929670 GRCh37: 3:10133890-10133890
GRCh38: 3:10092206-10092206
24 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del) Microsatellite Pathogenic 929648 GRCh37: 3:10084269-10084271
GRCh38: 3:10042585-10042587
25 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.1321_1322del (p.Ser441fs) Microsatellite Pathogenic 929654 GRCh37: 3:10089641-10089642
GRCh38: 3:10047957-10047958
26 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.2775_2776delinsTT (p.Arg926Ter) Indel Pathogenic 929663 GRCh37: 3:10116273-10116274
GRCh38: 3:10074589-10074590
27 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.2835dup (p.Asp947fs) Duplication Pathogenic 929664 GRCh37: 3:10116332-10116333
GRCh38: 3:10074648-10074649
28 LOC107303338 , FANCD2 NM_033084.5(FANCD2):c.958C>T (p.Gln320Ter) SNV Pathogenic 12041 rs121917788 GRCh37: 3:10084803-10084803
GRCh38: 3:10043119-10043119
29 LOC107303338 , FANCD2 NM_033084.5(FANCD2):c.1201del (p.Arg401fs) Deletion Pathogenic 435148 rs1553608812 GRCh37: 3:10088330-10088330
GRCh38: 3:10046646-10046646
30 LOC107303338 , FANCD2 NM_033084.5(FANCD2):c.757C>T (p.Arg253Ter) SNV Pathogenic 653154 rs374328858 GRCh37: 3:10083368-10083368
GRCh38: 3:10041684-10041684
31 LOC107303338 , FANCD2 NM_033084.5(FANCD2):c.2444G>A (p.Arg815Gln) SNV Pathogenic 241735 rs766567785 GRCh37: 3:10108951-10108951
GRCh38: 3:10067267-10067267
32 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.2715+1G>A SNV Pathogenic 667394 rs201811817 GRCh37: 3:10115047-10115047
GRCh38: 3:10073363-10073363
33 LOC107303338 , FANCD2 NM_033084.5(FANCD2):c.990-1G>A SNV Pathogenic 381559 rs112832879 GRCh37: 3:10085167-10085167
GRCh38: 3:10043483-10043483
34 LOC107303338 , FANCD2 NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) SNV Likely pathogenic 12040 rs121917787 GRCh37: 3:10084749-10084749
GRCh38: 3:10043065-10043065
35 LOC107303338 , FANCD2 NM_033084.5(FANCD2):c.2605+1G>A SNV Likely pathogenic 265138 rs142365855 GRCh37: 3:10114666-10114666
GRCh38: 3:10072982-10072982
36 FANCD2 NM_001018115.3(FANCD2):c.39dup (p.Glu14fs) Duplication Likely pathogenic 812894 rs1575723664 GRCh37: 3:10070377-10070378
GRCh38: 3:10028693-10028694
37 FANCD2 , FANCD2OS NM_001018115.3(FANCD2):c.3219del (p.Phe1073fs) Deletion Likely pathogenic 812895 rs1575824608 GRCh37: 3:10123139-10123139
GRCh38: 3:10081455-10081455
38 FANCD2 NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs) Deletion Likely pathogenic 623166 rs1559399574 GRCh37: 3:10122901-10122901
GRCh38: 3:10081217-10081217
39 LOC107303338 , FANCD2 NM_033084.5(FANCD2):c.2094_2096CCT[1] (p.Leu700del) Microsatellite Likely pathogenic 224709 rs869312805 GRCh37: 3:10106485-10106487
GRCh38: 3:10064801-10064803
40 LOC107303338 , FANCD2 NM_033084.5(FANCD2):c.1874C>T (p.Pro625Leu) SNV Uncertain significance 342363 rs886057690 GRCh37: 3:10105522-10105522
GRCh38: 3:10063838-10063838
41 FANCD2 , FANCD2OS NM_173472.2(FANCD2OS):c.43+4840G>A SNV Uncertain significance 342389 rs540249462 GRCh37: 3:10141042-10141042
GRCh38: 3:10099358-10099358
42 FANCD2 , FANCD2OS NM_173472.2(FANCD2OS):c.44-10660T>C SNV Uncertain significance 342377 rs886057692 GRCh37: 3:10133875-10133875
GRCh38: 3:10092191-10092191
43 FANCD2 , FANCD2OS NM_173472.2(FANCD2OS):c.43+4786G>A SNV Uncertain significance 342392 rs548255173 GRCh37: 3:10141096-10141096
GRCh38: 3:10099412-10099412
44 FANCD2 , FANCD2OS NM_173472.2(FANCD2OS):c.43+4560T>C SNV Uncertain significance 342395 rs886057697 GRCh37: 3:10141322-10141322
GRCh38: 3:10099638-10099638
45 LOC107303338 , FANCD2 NM_033084.5(FANCD2):c.1948-7C>T SNV Uncertain significance 342364 rs757782326 GRCh37: 3:10106033-10106033
GRCh38: 3:10064349-10064349
46 LOC107303338 , FANCD2 NM_033084.5(FANCD2):c.1265C>G (p.Ser422Cys) SNV Uncertain significance 342265 rs765378218 GRCh37: 3:10088394-10088394
GRCh38: 3:10046710-10046710
47 LOC107303338 , FANCD2 NM_033084.5(FANCD2):c.1546-8T>C SNV Uncertain significance 342271 rs530202330 GRCh37: 3:10094063-10094063
GRCh38: 3:10052379-10052379
48 LOC107303338 , FANCD2 NM_033084.5(FANCD2):c.1116C>T (p.Ala372=) SNV Uncertain significance 342258 rs370078641 GRCh37: 3:10085530-10085530
GRCh38: 3:10043846-10043846
49 FANCD2 , FANCD2OS NM_173472.2(FANCD2OS):c.43+5126G>A SNV Uncertain significance 342384 rs886057694 GRCh37: 3:10140756-10140756
GRCh38: 3:10099072-10099072
50 FANCD2 , FANCD2OS NM_173472.2(FANCD2OS):c.43+4821G>T SNV Uncertain significance 342390 rs550613588 GRCh37: 3:10141061-10141061
GRCh38: 3:10099377-10099377

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group D2:

72
# Symbol AA change Variation ID SNP ID
1 FANCD2 p.Ser126Gly VAR_022559 rs764507146
2 FANCD2 p.Arg302Trp VAR_022560 rs121917787
3 FANCD2 p.Arg1236His VAR_022562 rs121917786

Expression for Fanconi Anemia, Complementation Group D2

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group D2.

Pathways for Fanconi Anemia, Complementation Group D2

Pathways related to Fanconi Anemia, Complementation Group D2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.13 RAD51 FANCD2 FANCB FANCA BRCA2
2
Show member pathways
11.18 RAD51 FANCD2 FANCA BRCA2
3 10.99 RAD51 FANCD2 FANCB FANCA BRCA2
4 10.79 RAD51 FANCD2 FANCA

GO Terms for Fanconi Anemia, Complementation Group D2

Cellular components related to Fanconi Anemia, Complementation Group D2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral element GO:0000800 8.96 RAD51 BRCA2
2 Fanconi anaemia nuclear complex GO:0043240 8.62 FANCB FANCA

Biological processes related to Fanconi Anemia, Complementation Group D2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.8 RAD51 FANCD2 FANCB FANCA BRCA2
2 DNA repair GO:0006281 9.65 RAD51 FANCD2 FANCB FANCA BRCA2
3 response to X-ray GO:0010165 9.48 RAD51 BRCA2
4 regulation of regulatory T cell differentiation GO:0045589 9.46 FANCD2 FANCA
5 unsaturated fatty acid biosynthetic process GO:0006636 9.43 SCD FADS2
6 telomere maintenance via recombination GO:0000722 9.37 RAD51 BRCA2
7 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.32 RAD51 FANCB
8 regulation of CD40 signaling pathway GO:2000348 9.16 FANCD2 FANCA
9 mitotic recombination-dependent replication fork processing GO:1990426 8.96 RAD51 BRCA2
10 interstrand cross-link repair GO:0036297 8.92 RAD51 FANCD2 FANCB FANCA

Molecular functions related to Fanconi Anemia, Complementation Group D2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA polymerase binding GO:0070182 8.96 RAD51 FANCD2
2 stearoyl-CoA 9-desaturase activity GO:0004768 8.62 SCD FADS2

Sources for Fanconi Anemia, Complementation Group D2

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
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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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