Male Infertility Database

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Gene id

54849

Gene Summary Protein Summary Gene ontology Diseases PubMed

Gene Summary

Gene Symbol

DEF8 Gene UCSC Ensembl

Gene name

differentially expressed in FDCP 8 homolog

Alternate names

differentially expressed in FDCP 8 homolog, DEF-8,

Gene location

16q24.3 (89948730: 89968059) Exons: 16 NC_000016.10

OMIM

300050

Protein Summary

Protein general information

Q6ZN54

Name: Differentially expressed in FDCP 8 homolog (DEF 8)

Length: 512 Mass: 58710

Sequence

MAILSLRAPGPWQAMQVWADRTLLTPHTGVTSQVLGVAAAVMTPLPGGHAAGRTREARWDAMEYDEKLARFRQAH
LNPFNKQSGPRQHEQGPGEEVPDVTPEEALPELPPGEPEFRCPERVMDLGLSEDHFSRPVGLFLASDVQQLRQAI
EECKQVILELPEQSEKQKDAVVRLIHLRLKLQELKDPNEDEPNIRVLLEHRFYKEKSKSVKQTCDKCNTIIWGLI
QTWYTCTGCYYRCHSKCLNLISKPCVSSKVSHQAEYELNICPETGLDSQDYRCAECRAPISLRGVPSEARQCDYT
GQYYCSHCHWNDLAVIPARVVHNWDFEPRKVSRCSMRYLALMVSRPVLRLREINPLLFSYVEELVEIRKLRQDIL
LMKPYFITCREAMEARLLLQLQDRQHFVENDEMYSVQDLLDVHAGRLGCSLTEIHTLFAKHIKLDCERCQAKGFV
CELCREGDVLFPFDSHTSVCADCSAVFHRDCYYDNSTTCPKCARLSLRKQSLFQEPGPDVEA

Structural information

Interpro:	IPR002219 IPR025258
Prosite:	PS00479 PS50081
STRING:	ENSP00000268676

Other Databases

GeneCards: DEF8 Malacards: DEF8

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0045780	positive regulation of bo ne resorption	ISS	biological process
GO:0032418	lysosome localization	ISS	biological process
GO:1900029	positive regulation of ru ffle assembly	ISS	biological process
GO:0035556	intracellular signal tran sduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function

Diseases

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Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

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PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
21674046	Aberrant C pGs in Low Motility Sperm	18	Male infertility	GSE26881	Show abstract
28606200	Cryptorchi dism	Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract
28606200	Cryptorchi dism	Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract
28606200	Cryptorchi dism	Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract
28606200	Cryptorchi dism	Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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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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Diseases Expand All | Collapse All

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PubMed references

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Diseases

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