Male Infertility Database

Search Result

Gene id

2178

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

FANCE Gene UCSC Ensembl

Aliases

FACE, FAE

Gene name

FA complementation group E

Alternate names

Fanconi anemia group E protein, Fanconi anemia complementation group E,

Gene location

6p21.31 (35452337: 35467105) Exons: 10 NC_000006.12

Gene summary(Entrez)

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

OMIM

605338

Protein Summary

Protein general information

Q9HB96

Name: Fanconi anemia group E protein (Protein FACE)

Length: 536 Mass: 58711

Sequence

MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDWGRLLEALCREEPVVQ
GPDGRLELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQIAQQDLAPDPDAWLRALGELLRRDLGVGTSM
EGASPLSERCQRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEE
EEDHEKERPEHKSLESLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEE
GLEGLEDAPPVELQLLHECSPSQMDLLCAQLQLPQLSDLGLLRLCTWLLALSPDLSLSNATVLTRSLFLGRILSL
TSSASRLLTTALTSFCAKYTYPVCSALLDPVLQAPGTGPAQTELLCCLVKMESLEPDAQVLMLGQILELPWKEET
FLVLQSLLERQVEMTPEKFSVLMEKLCKKGLAATTSMAYAKLMLTVMTKYQANITETQRLGLAMALEPNTTFLRK
SLKAALKHLGP

Structural information

Interpro:	IPR039685 IPR021025
CDD:	cd07439
PDB:	2ILR
PDBsum:	2ILR
DIP:	32845
MINT:
STRING:	ENSP00000229769

Other Databases

GeneCards: FANCE Malacards: FANCE

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0043240	Fanconi anaemia nuclear c omplex	IBA	cellular component
GO:0043240	Fanconi anaemia nuclear c omplex	IDA	cellular component
GO:0043240	Fanconi anaemia nuclear c omplex	IDA	cellular component
GO:0036297	interstrand cross-link re pair	IEA	biological process
GO:0043240	Fanconi anaemia nuclear c omplex	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0036297	interstrand cross-link re pair	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0003674	molecular_function	ND	molecular function

KEGG pathways

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Pathway id	Pathway name
hsa03460	Fanconi anemia pathway

Diseases

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Associated diseases	References
Fanconi anemia	KEGG:H00238
Fanconi anemia	KEGG:H00238
Spermatogenic defects	MIK: 31037746

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
31037746	Spermatoge nic defect s			28 men with az oospermia	Male infertility	Microarray	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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Gene Summary

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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