Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2178
Gene name Gene Name - the full gene name approved by the HGNC.	FA complementation group E
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FANCE
Synonyms (NCBI Gene) Gene synonyms aliases	FACE, FAE
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.31
Summary Summary of gene provided in NCBI Entrez Gene.	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FAN

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434505	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121434506	C>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs587778337	C>-,CC	Not-provided, pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs754850404	G>-	Likely-pathogenic	Initiator codon variant, coding sequence variant, non coding transcript variant, frameshift variant
rs763151358	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs878854342	G>A	Pathogenic	Intron variant
rs1581696699	T>C	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice donor variant

Show/Hide all(124)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016378	hsa-miR-193b-3p	Microarray	20304954
MIRT756240	hsa-miR-26a-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34804856
MIRT989060	hsa-miR-1254	CLIP-seq
MIRT989061	hsa-miR-1255a	CLIP-seq
MIRT989062	hsa-miR-1255b	CLIP-seq
MIRT989063	hsa-miR-1827	CLIP-seq
MIRT989064	hsa-miR-2467-3p	CLIP-seq
MIRT989065	hsa-miR-3116	CLIP-seq
MIRT989066	hsa-miR-3192	CLIP-seq
MIRT989067	hsa-miR-3612	CLIP-seq
MIRT989068	hsa-miR-3664-3p	CLIP-seq
MIRT989069	hsa-miR-3689a-3p	CLIP-seq
MIRT989070	hsa-miR-3689c	CLIP-seq
MIRT989071	hsa-miR-3929	CLIP-seq
MIRT989072	hsa-miR-3942-5p	CLIP-seq
MIRT989073	hsa-miR-4257	CLIP-seq
MIRT989074	hsa-miR-4419b	CLIP-seq
MIRT989075	hsa-miR-4433	CLIP-seq
MIRT989076	hsa-miR-4459	CLIP-seq
MIRT989077	hsa-miR-4478	CLIP-seq
MIRT989078	hsa-miR-4703-5p	CLIP-seq
MIRT989079	hsa-miR-4728-5p	CLIP-seq
MIRT989080	hsa-miR-4732-3p	CLIP-seq
MIRT989081	hsa-miR-4768-3p	CLIP-seq
MIRT989082	hsa-miR-4793-3p	CLIP-seq
MIRT989083	hsa-miR-485-5p	CLIP-seq
MIRT989084	hsa-miR-508-5p	CLIP-seq
MIRT989085	hsa-miR-582-5p	CLIP-seq
MIRT989086	hsa-miR-650	CLIP-seq
MIRT989087	hsa-miR-766	CLIP-seq
MIRT1993084	hsa-miR-1262	CLIP-seq
MIRT989063	hsa-miR-1827	CLIP-seq
MIRT1993085	hsa-miR-2114	CLIP-seq
MIRT1993086	hsa-miR-216a	CLIP-seq
MIRT989064	hsa-miR-2467-3p	CLIP-seq
MIRT989067	hsa-miR-3612	CLIP-seq
MIRT989069	hsa-miR-3689a-3p	CLIP-seq
MIRT989070	hsa-miR-3689c	CLIP-seq
MIRT989071	hsa-miR-3929	CLIP-seq
MIRT1993087	hsa-miR-3974	CLIP-seq
MIRT989073	hsa-miR-4257	CLIP-seq
MIRT989074	hsa-miR-4419b	CLIP-seq
MIRT989077	hsa-miR-4478	CLIP-seq
MIRT1993088	hsa-miR-4480	CLIP-seq
MIRT1993089	hsa-miR-4701-3p	CLIP-seq
MIRT989079	hsa-miR-4728-5p	CLIP-seq
MIRT989083	hsa-miR-485-5p	CLIP-seq
MIRT1993090	hsa-miR-493	CLIP-seq
MIRT989085	hsa-miR-582-5p	CLIP-seq
MIRT989086	hsa-miR-650	CLIP-seq
MIRT1993091	hsa-miR-890	CLIP-seq
MIRT989063	hsa-miR-1827	CLIP-seq
MIRT1993085	hsa-miR-2114	CLIP-seq
MIRT989064	hsa-miR-2467-3p	CLIP-seq
MIRT989066	hsa-miR-3192	CLIP-seq
MIRT989067	hsa-miR-3612	CLIP-seq
MIRT989069	hsa-miR-3689a-3p	CLIP-seq
MIRT989070	hsa-miR-3689c	CLIP-seq
MIRT989071	hsa-miR-3929	CLIP-seq
MIRT989073	hsa-miR-4257	CLIP-seq
MIRT989074	hsa-miR-4419b	CLIP-seq
MIRT989077	hsa-miR-4478	CLIP-seq
MIRT989079	hsa-miR-4728-5p	CLIP-seq
MIRT989083	hsa-miR-485-5p	CLIP-seq
MIRT989085	hsa-miR-582-5p	CLIP-seq
MIRT989086	hsa-miR-650	CLIP-seq
MIRT2227005	hsa-miR-661	CLIP-seq
MIRT1993091	hsa-miR-890	CLIP-seq
MIRT2530801	hsa-miR-1228	CLIP-seq
MIRT989060	hsa-miR-1254	CLIP-seq
MIRT1993084	hsa-miR-1262	CLIP-seq
MIRT2530802	hsa-miR-1283	CLIP-seq
MIRT1993086	hsa-miR-216a	CLIP-seq
MIRT989065	hsa-miR-3116	CLIP-seq
MIRT2530803	hsa-miR-338-3p	CLIP-seq
MIRT2530804	hsa-miR-3607-3p	CLIP-seq
MIRT2530805	hsa-miR-3613-3p	CLIP-seq
MIRT2530806	hsa-miR-3614-5p	CLIP-seq
MIRT2530807	hsa-miR-3646	CLIP-seq
MIRT989068	hsa-miR-3664-3p	CLIP-seq
MIRT2530808	hsa-miR-3670	CLIP-seq
MIRT2530809	hsa-miR-3714	CLIP-seq
MIRT2530810	hsa-miR-371-5p	CLIP-seq
MIRT2530811	hsa-miR-371b-5p	CLIP-seq
MIRT989072	hsa-miR-3942-5p	CLIP-seq
MIRT989075	hsa-miR-4433	CLIP-seq
MIRT989076	hsa-miR-4459	CLIP-seq
MIRT1993088	hsa-miR-4480	CLIP-seq
MIRT1993089	hsa-miR-4701-3p	CLIP-seq
MIRT989078	hsa-miR-4703-5p	CLIP-seq
MIRT2530812	hsa-miR-4724-3p	CLIP-seq
MIRT989080	hsa-miR-4732-3p	CLIP-seq
MIRT989081	hsa-miR-4768-3p	CLIP-seq
MIRT2530813	hsa-miR-4768-5p	CLIP-seq
MIRT2530814	hsa-miR-634	CLIP-seq
MIRT2530815	hsa-miR-656	CLIP-seq
MIRT2530816	hsa-miR-940	CLIP-seq
MIRT2530817	hsa-miR-942	CLIP-seq
MIRT2530801	hsa-miR-1228	CLIP-seq
MIRT1993084	hsa-miR-1262	CLIP-seq
MIRT1993086	hsa-miR-216a	CLIP-seq
MIRT2530803	hsa-miR-338-3p	CLIP-seq
MIRT2530804	hsa-miR-3607-3p	CLIP-seq
MIRT2530805	hsa-miR-3613-3p	CLIP-seq
MIRT2530806	hsa-miR-3614-5p	CLIP-seq
MIRT989068	hsa-miR-3664-3p	CLIP-seq
MIRT2530808	hsa-miR-3670	CLIP-seq
MIRT2530809	hsa-miR-3714	CLIP-seq
MIRT2530810	hsa-miR-371-5p	CLIP-seq
MIRT2530811	hsa-miR-371b-5p	CLIP-seq
MIRT989072	hsa-miR-3942-5p	CLIP-seq
MIRT989075	hsa-miR-4433	CLIP-seq
MIRT989076	hsa-miR-4459	CLIP-seq
MIRT1993088	hsa-miR-4480	CLIP-seq
MIRT1993089	hsa-miR-4701-3p	CLIP-seq
MIRT989078	hsa-miR-4703-5p	CLIP-seq
MIRT2530812	hsa-miR-4724-3p	CLIP-seq
MIRT989080	hsa-miR-4732-3p	CLIP-seq
MIRT989081	hsa-miR-4768-3p	CLIP-seq
MIRT2530813	hsa-miR-4768-5p	CLIP-seq
MIRT2530814	hsa-miR-634	CLIP-seq
MIRT2530815	hsa-miR-656	CLIP-seq
MIRT2530816	hsa-miR-940	CLIP-seq
MIRT2530817	hsa-miR-942	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	22343915
GO:0001541	Process	Ovarian follicle development	IEA
GO:0005515	Function	Protein binding	IPI	12649160, 33961781, 35512704
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11001585
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IDA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0010467	Process	Gene expression	IEA
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0043240	Component	Fanconi anaemia nuclear complex	IBA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428, 22266823
GO:0043240	Component	Fanconi anaemia nuclear complex	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	NAS	22343915
GO:0048872	Process	Homeostasis of number of cells	IEA

MIM	HGNC	e!Ensembl
613976	3586	ENSG00000112039

Protein

UniProt ID

Q9HB96

Protein name

Fanconi anemia group E protein (Protein FACE)

Protein function

As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. {ECO:0000269|PubMed:12093742, ECO:0000269|PubMed:172

PDB

2ILR , 7KZP , 7KZQ , 7KZR , 7KZS , 7KZT , 7KZV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11510	FA_FANCE	274 → 535	Fanconi Anaemia group E protein FANCE	Family

Sequence

MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDW
GRLLEALCREEPVVQGPDGRLELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQI
AQQDLAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERCQRQLQSLCRGLGLGGRRLKS
PQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLE
SLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEE
GLEGLEDAPPVELQLLHECSPSQMDLLCAQLQLPQLSDLGLLRLCTWLLALSPDLSLSNA
TVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCSALLDPVLQAPGTGPAQTELL
CCLVKMESLEPDAQVLMLGQILELPWKEETFLVLQSLLERQVEMTPEKFSVLMEKLCKKG
LAATTSMAYAKLMLTVMTKYQANITETQRLGLAMALEPNTTFLRKSLKAALKHLGP

Sequence length

536

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway		Fanconi Anemia Pathway

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Fanconi Anemia	Fanconi anemia complementation group E, fanconi anemia	rs121434505, rs121434506, rs878854342, rs587778337, rs754850404, rs775076977, rs773363446, rs1581696699, rs760150539	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	Malignant tumor of breast	N/A	N/A	ClinVar
Insomnia	Insomnia	N/A	N/A	GWAS
Microcephaly	microcephaly	N/A	N/A	ClinVar
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anemia Hemolytic	Associate	17308347
Colorectal Neoplasms	Associate	27165003
Esophageal Neoplasms	Associate	21279724
Esophageal Squamous Cell Carcinoma	Associate	21279724, 23504502
Fanconi Anemia	Associate	11001585, 12239156, 15256425, 16127171, 17296736, 19405097, 21279724, 24451376, 27165003, 28678401
Head and Neck Neoplasms	Associate	33592580
Hereditary Breast and Ovarian Cancer Syndrome	Associate	27165003, 30306255
Hypogonadism	Associate	33270637
Neoplasms	Associate	28878254, 32778095, 33592580
Pancreatic Neoplasms	Associate	39256447
Primary Ovarian Insufficiency	Associate	39358799
Sarcoma	Associate	28878254
Squamous Cell Carcinoma of Head and Neck	Associate	28678401

FANCE (FA complementation group E)