AutDB - Autism Database

Gene
CNV
Animal Model
PIN

BRCA2

Homo sapiens

Gene Name: breast cancer 2, early onset
Aliases: RP11-298P3.4, BRCC2, BROVCA2, FACD, FAD, FAD1, FANCB, FANCD, FANCD1, GLM3, PNCA2
Chromosome No: 13
Chromosome Band: 13q13.1
Genetic Category: Rare Single Gene variant

Summary Statistics:

ASD Reports: 8
Recent Reports: 0
Annotated variants: 13
Associated CNVs: 13
Evidence score: 2

Associated Disorders:

Summary
Sequence Variants

Relevance to Autism

Rare mutations in the BRCA2 gene have been identified in individuals with ASD (Neale et al., 2012).

Molecular Function

Inherited mutations in BRCA2 confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair.

External Links

References

Type

Title

Type of Disorder

Associated Disorders

Author, Year

Primary

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

ASD

Neale BM , et al. 2012

Support

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.

ID, epilepsy/seizures

Microcephaly

Rump P , et al. 2016

Support

Synaptic, transcriptional and chromatin genes disrupted in autism.

ASD

De Rubeis S , et al. 2014

Support

ASD, DD, ID, epilepsy/seizures

et al.

Support

ASD

Cirnigliaro M et al. 2023

Support

Integrating de novo and inherited variants in 42

ASD

Zhou X et al. 2022

Support

Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.

ASD

Macrocephaly

Wu H , et al. 2019

Support

Both rare and common genetic variants contribute to autism in the Faroe Islands.

ASD

Leblond CS , et al. 2019

Rare

Variant ID

Variant Type

Allele Change

Residue Change

Inheritance Pattern

Inheritance Association

Family Type

Author, Year

GEN337R001

missense_variant

c.6772G>A

p.Glu2258Lys

De novo

Simplex

Neale BM , et al. 2012

GEN337R002

missense_variant

c.7316G>A

p.Gly2439Glu

De novo

Simplex

Neale BM , et al. 2012

GEN337R003

missense_variant

c.9383G>A

p.Arg3128Gln

De novo

De Rubeis S , et al. 2014

GEN337R004a

frameshift_variant

c.9672dup

p.Tyr3225IlefsTer30

Familial

Both parents

Simplex

Rump P , et al. 2016

GEN337R005

stop_gained

c.9976A>T

p.Lys3326Ter

Familial

Paternal

Simplex

Leblond CS , et al. 2019

GEN337R006

stop_gained

c.9976A>T

p.Lys3326Ter

Familial

Paternal

Simplex

Leblond CS , et al. 2019

GEN337R007

splice_site_variant

c.8954-2A>G

Familial

Paternal

Simplex

Wu H , et al. 2019

GEN337R008

missense_variant

c.6814A>G

p.Arg2272Gly

De novo

Zhou X et al. 2022

GEN337R009

synonymous_variant

c.7632C>T

p.Gly2544%3D

De novo

Simplex

Zhou X et al. 2022

GEN337R010

frameshift_variant

c.658_659del

p.Val220IlefsTer4

Familial

Paternal

Multiplex

Cirnigliaro M et al. 2023

GEN337R011

frameshift_variant

c.5946del

p.Ser1982ArgfsTer22

Familial

Paternal

Multiplex

Cirnigliaro M et al. 2023

GEN337R012

frameshift_variant

c.10095_10096insT

p.Ser3366Ter

Familial

Maternal

Multiplex

Cirnigliaro M et al. 2023

GEN337R013

frameshift_variant

c.7300_7301del

p.Lys2434AlafsTer4

Unknown

et al.

Common

No Common Variants Available

Chromosome

CNV Locus

CNV Type

# of studies

Animal Model

13q11-q13.3

Duplication

13q11-q21.1

Deletion

13q11-q34

Duplication

13q12.11-q21.1

N/A

13q12.11-q21.2

Deletion

13q12.11-q34

Duplication

13q12.3-q13.1

Deletion

13q12.3-q13.2

Deletion

13q12.3-q21.33

Deletion

13q12.3-q31.1

Duplication

13q12.3-q31.3

Duplication

13q13.1

Deletion

13q13.1-q13.2

Duplication

No Animal Model Data Available

BRCA2

Homo sapiens

Gene Name: breast cancer 2, early onset
Gene Aliases: RP11-298P3.4, BRCC2, BROVCA2, FACD, FAD, FAD1, FAN

Summary Statistics:

Total Interactions: 84
Total Publications: 48

Interactome
Interaction Table

Download BRCA2's Cytoscape file

Interactor Symbol	Interactor Name	Entrez ID	Uniprot ID	Evidence	Reference
AARSD1	alanyl-tRNA synthetase domain containing 1	80755	Q9BTE6	IP; LC-MS/MS	Huttlin EL , et al. 2015
ATM	ataxia telangiectasia mutated	472	Q13315	EMSA	Wang X , et al. 2004
ATR	ataxia telangiectasia and Rad3 related	545	Q13535	in vitro kinase assay	Kim ST , et al. 1999
AURKB	aurora kinase B	9212	Q96GD4	IP/WB	Ryser S , et al. 2009
BACH1	BTB and CNC homology 1, basic leucine zipper transcription factor 1	571	O14867	IP/WB	Kumaraswamy E and Shiekhattar R 2007
BAG4	BCL2-associated athanogene 4	9530	O95429	IP; LC-MS/MS	Huttlin EL , et al. 2015
BARD1	BRCA1 associated RING domain 1	580	A0AVN2	IP/WB	Ryser S , et al. 2009
BCCIP	BRCA2 and CDKN1A interacting protein	56647	Q9P287	IP/WB; Y2H	Liu J , et al. 2001
BRCA1	breast cancer 1, early onset	672	P38398	IP/WB; GST	Chen J , et al. 1998
BRCC3	BRCA1/BRCA2-containing complex, subunit 3	79184	P46736	IP/WB	Kumaraswamy E and Shiekhattar R 2007
BUB1B	budding uninhibited by benzimidazoles 1 homolog beta (yeast)	701	O60566	Y2H; GST; in vitro kinase assay	Futamura M , et al. 2000
C11orf30	chromosome 11 open reading frame 30	56946	Q7Z589	Y2H; GST; IP/WB	Hughes-Davies L , et al. 2003
C19ORF45	Uncharacterized protein C19orf45	374877	Q8NA69	IP; LC-MS/MS	Huttlin EL , et al. 2015
C6ORF141	chromosome 6 open reading frame 141	135398	Q5SZD1	IP; LC-MS/MS	Huttlin EL , et al. 2015
CCNA2	cyclin A2	890	P20248	in vitro kinase assay	Esashi F , et al. 2005
CCNB1	cyclin B1	891	P14635	in vitro kinase assay	Esashi F , et al. 2005
CCND1	cyclin D1	595	P24385	IP; MS; GST; IP/WB	Jirawatnotai S , et al. 2011
CDK1	cyclin-dependent kinase 1	983	P06493	in vitro kinase assay	Esashi F , et al. 2005
CDK2	cyclin-dependent kinase 2	1017	P24941	in vitro kinase assay	Esashi F , et al. 2005
CEBPA	CCAAT/enhancer binding protein (C/EBP), alpha	1050	P49715	EMSA; ChIP	Maia AT , et al. 2012
CEP55	centrosomal protein 55kDa	55165	Q53EZ4	IP/WB	Mondal G , et al. 2012
CNKSR1	Connector enhancer of kinase suppressor of ras 1	10256	Q969H4	IP; LC-MS/MS	Huttlin EL , et al. 2015
CREBBP	CREB binding protein	1387	Q92793	GST	Siddique H , et al. 2009
DBP	D site of albumin promoter (albumin D-box) binding protein	1628	Q10586	EMSA; ChIP	Maia AT , et al. 2012
DMC1	DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)	11144	Q14565	IP/WB; GST; Y2H; Affinity chromatography; Peptide microarray	Thorslund T , et al. 2007
DMC1	DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)	11144	Q14565	EMSA; in vitro binding assay	Martinez JS , et al. 2016
DSN1	DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)	79980	Q9H410	IP; LC-MS/MS	Huttlin EL , et al. 2015
ERCC5	excision repair cross-complementing rodent repair deficiency, complementation group 5	2073	P28715	IP/WB	Trego KS , et al. 2016
FANCD2	Fanconi anemia, complementation group D2	2177	Q9BXW9	Y2H; IP/WB	Hussain S , et al. 2004
FANCE	Fanconi anemia, complementation group E	2178	Q9HB96	IP/WB	Wang X , et al. 2004
FANCG	Fanconi anemia, complementation group G	2189	O15287	Y2H; IP/WB	Hussain S , et al. 2003
FLNA	filamin A, alpha	2316	P21333	Y2H; GST; IP/WB	Yuan Y and Shen Z 2001
FMR1	fragile X mental retardation 1	2332	G8JLE9	PAR-CLIP	Ascano M Jr , et al. 2012
H2AFX	H2A histone family, member X	3014	P16104	IP; MS	Heo K , et al. 2008
HMG20B	high mobility group 20B	10362	Q9P0W2	IP; MS; IP/WB; GST	Marmorstein LY , et al. 2001
HMGA1	high mobility group AT-hook 1	3159	P17096	EMSA; ChIP	Maia AT , et al. 2012
KAT2B	K(lysine) acetyltransferase 2B	8850	Q92831	GST; IP/WB	Fuks F , et al. 1998
KIF23	kinesin family member 23	9493	Q02241	IP/WB	Mondal G , et al. 2012
KIF4A	kinesin family member 4A	24137	O95239	IP/WB	Wu G , et al. 2008
L3MBTL1	Lethal(3)malignant brain tumor-like protein 1	26013	Q9Y468-1	IP; LC-MS/MS	Huttlin EL , et al. 2015
MAGED1	melanoma antigen family D, 1	9500	Q9Y5V3	Y2H; IP/WB	Tian XX , et al. 2005
MCPH1	microcephalin 1	79648	Q8NEM0	IP/WB; GST	Wu X , et al. 2009
MGMT	O-6-methylguanine-DNA methyltransferase	4255	P16455	IP/WB	Philip S , et al. 2008
MIR1245A	microRNA 1245a	100302219	N/A	Luciferase reporter assay	Song L , et al. 2011
MLF1	myeloid leukemia factor 1	4291	P58340	IP; LC-MS/MS	Huttlin EL , et al. 2015
MORF4L1	mortality factor 4 like 1	10933	B7Z6R1	IP/WB	Hayakawa T , et al. 2010
MORF4L2	mortality factor 4 like 2	9643	Q15014	IP; LC-MS/MS	Huttlin EL , et al. 2015
NCAPH2	non-SMC condensin II complex, subunit H2	29781	Q6IBW4	IP; LC-MS/MS	Huttlin EL , et al. 2015
NSMCE4A	non-SMC element 4 homolog A (S. cerevisiae)	54780	Q9NXX6	IP; LC-MS/MS	Huttlin EL , et al. 2015
PALB2	partner and localizer of BRCA2	79728	Q86YC2	IP/WB	Xia B , et al. 2006
PALB2	partner and localizer of BRCA2	79728	Q86YC2	IP/WB	Trego KS , et al. 2016
PDCD6IP	programmed cell death 6 interacting protein	10015	Q8WUM4	IP/WB	Mondal G , et al. 2012
PDS5B	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	23047	Q9NTI5	IP/WB	Brough R , et al. 2012
PLK1	polo-like kinase 1	5347	P53350	IP/WB; in vitro kinase assay	Lin HR , et al. 2003
PMS1	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	5378	P54277	IP; TAP; MS	Cannavo E , et al. 2006
PMS2	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	5395	P54278	IP; TAP; MS	Cannavo E , et al. 2006
PPM1E	protein phosphatase, Mg2+/Mn2+ dependent, 1E	22843	Q8WY54	IP; LC-MS/MS	Huttlin EL , et al. 2015
PRC1	protein regulator of cytokinesis 1	9055	O43663	IP/WB	Mondal G , et al. 2012
PSMD3	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	5709	O43242	IP/WB	Gudmundsdottir K , et al. 2007
PSMD6	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	9861	Q15008	IP/WB	Gudmundsdottir K , et al. 2007
RABL2A	Rab-like protein 2A	11159	B7ZBD5	IP; LC-MS/MS	Huttlin EL , et al. 2015
RAD51	RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	5888	Q06609	IP/WB	Trego KS , et al. 2016
RFXANK	DNA-binding protein RFXANK	8625	O14593	IP; LC-MS/MS	Huttlin EL , et al. 2015
RPA1	replication protein A1, 70kDa	6117	P27694	GST	Wong JM , et al. 2003
SHFM1	split hand/foot malformation (ectrodactyly) type 1	7979	P60896	Y2H; M2H; IP/WB	Marston NJ , et al. 1999
SHFM1	split hand/foot malformation (ectrodactyly) type 1	7979	P60896	IP/WB	Trego KS , et al. 2016
SKP2	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	6502	B4DJT4	IP/WB	Moro L , et al. 2006
SMAD3	SMAD family member 3	4088	P84022	Luciferase reporter assay; GST; IP/WB	Preobrazhenska O , et al. 2002
SNX32	Sorting nexin-32	254122	Q86XE0	IP; LC-MS/MS	Huttlin EL , et al. 2015
SP1	Sp1 transcription factor	6667	P08047	IP/WB; Luciferase reporter assay; ChIP	Tapias A , et al. 2008
SPANXA1	sperm protein associated with the nucleus, X-linked, family member A1	30014	Q9NS26	IP; LC-MS/MS	Huttlin EL , et al. 2015
STAT5A	signal transducer and activator of transcription 5A	6776	A8K6I5	IP/WB	Vidarsson H , et al. 2002
SYCP3	synaptonemal complex protein 3	50511	Q8IZU3	IP/WB	Hosoya N , et al. 2011
TP53	tumor protein p53	7157	P04637	IP/WB	Marmorstein LY , et al. 1998
TSG101	tumor susceptibility gene 101	7251	Q99816	IP/WB	Mondal G , et al. 2012
UBC	ubiquitin C	7316	P63279	IP/WB	Schoenfeld AR , et al. 2004
UQCC	ubiquinol-cytochrome c reductase complex chaperone	55245	Q9NVA1	GST	Siddique H , et al. 2009
USP11	ubiquitin specific peptidase 11	8237	P51784	IP; Micro-HPLC; MS; IP/WB; in vitro deubiquitination assay	Schoenfeld AR , et al. 2004
WDR16	WD repeat domain 16	146845	Q8N1V2	IP/WB	Silva FP , et al. 2005
XRCC3	X-ray repair complementing defective repair in Chinese hamster cells 3	7517	O43542	IP/WB	Hussain S , et al. 2006
ZFP161	zinc finger protein 161 homolog (mouse)	7541	O43829	EMSA; ChIP	Maia AT , et al. 2012
GRIP1	glutamate receptor interacting protein 1	74053	Q925T6	IP/WB	Shin S and Verma IM 2003
Rad51	RAD51 homolog (S. cerevisiae)	19361	A3KGI0	Y2H; M2H	Sharan SK , et al. 1997

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Relevance to Autism

Molecular Function

External Links

References

Rare

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