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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2178
Gene name	FA complementation group E
Gene symbol	FANCE
Synonyms (NCBI Gene)	FACEFAE
Chromosome	6
Chromosome location	6p21.31
Summary	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

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Show/Hide all (124)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016378	hsa-miR-193b-3p	Microarray	20304954
MIRT756240	hsa-miR-26a-5p	Luciferase reporter assayWestern blottingqRT-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

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

780

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FANCE-related disorder	Likely pathogenic; Pathogenic	rs916124670, rs775076977	RCV003391451 RCV004751661
Fanconi anemia	Likely pathogenic; Pathogenic	rs755938406, rs2533657776, rs775076977	RCV002266522 RCV003331879 RCV004768556
Fanconi anemia complementation group E	Likely pathogenic; Pathogenic	rs1767163932, rs2150895088, rs752690798, rs1272613429, rs2150896309, rs773363446, rs1479445348, rs1767507722, rs2150885915, rs587778337, rs1561792535, rs2150889955, rs866005940, rs121434505, rs121434506 View all (48 more)	RCV001377608 RCV001377491 RCV001387796 RCV001383881 RCV001390298 RCV001536074 RCV001783262 RCV001781087 RCV003509701 RCV003460852 RCV001951367 RCV002026515 RCV003025051 RCV000009247 RCV000009248 RCV000009249 RCV003509810 RCV003468144 RCV003468145 RCV003468146 RCV003461478 RCV003461479 RCV003461481 RCV003468147 RCV003468148 RCV003461467 RCV003468141 RCV003461468 RCV003461469 RCV003468142 RCV003468143 RCV003461470 RCV003461471 RCV003461472 RCV003461473 RCV003461474 RCV003461475 RCV003509931 RCV003510855 RCV003510293 RCV003620537 RCV003620572 RCV003620714 RCV003621062 RCV003621413 RCV003619627 RCV003620212 RCV003855377 RCV003865806 RCV003861758 RCV003872191 RCV004576562 RCV004576563 RCV004576564 RCV003464038 RCV000686258 RCV003460997 RCV000987684 RCV001065359 RCV001255878 RCV001194795 RCV001194796 RCV001194800 RCV001237507 RCV001236898 RCV001244686
Sarcoma	Likely pathogenic; Pathogenic	rs775076977	RCV005901613
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2150895088	RCV005912595

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Carcinoma of colon	Conflicting classifications of pathogenicity	rs763151358	RCV000416904
Carcinoma of pancreas	Conflicting classifications of pathogenicity	rs587778337	RCV001391222
Cervical cancer	Benign	rs45467798	RCV005889526
Colorectal cancer	Uncertain significance	rs757769907	RCV005912506
Exstrophy-epispadias complex	Conflicting classifications of pathogenicity	rs139600847	RCV003389394
Gastric cancer	Benign; Uncertain significance	rs45467798, rs200659702	RCV005889527 RCV005932100
Hepatocellular carcinoma	Benign	rs45467798	RCV005889525
Hereditary breast ovarian cancer syndrome	Uncertain significance	rs371485747	RCV001374563
Hereditary cancer-predisposing syndrome	Uncertain significance	rs587778339	RCV005251073
Lung cancer	Benign	rs45467798	RCV005889529
Malignant tumor of breast	Conflicting classifications of pathogenicity	rs145068586	RCV001269487
Microcephaly	Uncertain significance	rs778622122	RCV001252751
Monogenic short stature	Uncertain significance	rs1027705914	RCV006443675
Ovarian cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs1225225979, rs139600847, rs141551053, rs1330517530, rs2150885900, rs779336261, rs201961713	RCV003154191 RCV003153392 RCV003153393 RCV003154216 RCV003154700 RCV003153564 RCV003153821
See cases	Uncertain significance	rs950301098	RCV002252240
Thymoma	Benign	rs45467798	RCV005889528

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)