Male Infertility Database

Search Result

Gene id

374786

Gene Summary Protein Summary Gene ontology Diseases PubMed

Gene Summary

Gene Symbol

EFCAB5 Gene UCSC Ensembl

Gene name

EF-hand calcium binding domain 5

Alternate names

EF-hand calcium-binding domain-containing protein 5,

Gene location

17q11.2 (29929902: 30108451) Exons: 28 NC_000017.11

OMIM

Protein Summary

Protein general information

A4FU69

Name: EF hand calcium binding domain containing protein 5

Length: 1503 Mass: 173404

Sequence

MNESASQEELRPAQENRKEDKERKWNLTEVKELHETLQSVPDVPVKEDTNSVVEKAMDEIKSQELNLEGQRKISP
GSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKK
LPRDNLAKEWFNTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNY
IKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDP
KGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADE
FREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGD
MDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEE
QQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSR
ESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRK
DSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQK
IEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLET
FVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQFSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYT
YKEGMEKESMKKAKLHIQFPKPHPGHEVRLSSKQFQNYIELVVSELRGNEDQVLESVVEFLMNALERSHIESLRN
SARRKWLHQIQCAAETSGVSLEPVYSETFKALMQDAEAHGNKKISAHISLLEENLLLPEKGNVLLRNVACTLDDA
QFVLNRVLYRDMKGISFTVVDEGKPIHVPQVQYHGNIFFWNQSRNKHDYNGSFLALPLQDAYMRIFGVLAVDTLR
DPHEINIFLPHEIRFYQGVANVFSTAYHYVHSREHILHIVITGIGWLYDVTSSITSITTYFVEPSPAQDSDYVLR
NMMVTGQLGLTEIHKNPPTIHRKSCIFRDFLFKCTDSSEVVLASACGETHIVVPLRERTGEALGVLDFNIGQNRM
LLCQEYKDLQKMMKVVQVACYEILGEFSGEIKKKYILEIENVREVQRAGILFFRIMLLELQESIQLLNSMEFVSL
LLYDHTLVTEPNSPQDSKSMELEANVKLVRDILKAVILFFHPELEFSSDFGSWDKCKFYVNKYLVNNICAFDPTA
KHVEVNVQLIDEYIRDHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAKMPGEGL
QEK

Structural information

Protein Domains	(869..90-) (/note="EF-hand-) (/evidence="ECO:0000255\|PROSITE-ProRule:PRU00448"-)
Interpro:	IPR018247 IPR002048 IPR029016
Prosite:	PS00018 PS50222
MINT:
STRING:	ENSP00000378312

Other Databases

GeneCards: EFCAB5 Malacards: EFCAB5

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
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
Teratozoospermia	MIK: 17327269

PubMed references

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PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
17327269	Teratozoos permia	19 (6 controls , 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)	Show 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

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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Diseases Expand All | Collapse All

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PubMed references

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Diseases

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