|
Gene id |
83893 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
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|
Gene Symbol |
SPATA16 Gene UCSC Ensembl |
|
Aliases |
NYD-SP12, SPGF6 |
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Gene name |
spermatogenesis associated 16 |
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Alternate names |
spermatogenesis-associated protein 16, testicular tissue protein Li 185, testis development protein NYD-SP12, testis-specific Golgi protein, |
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Gene location |
3q26.31 (173141267: 172889356) Exons: 13 NC_000003.12
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|
Gene summary(Entrez) |
This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010]
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|
OMIM |
609856 |
Protein Summary
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| Protein general information
| Q9BXB7
Name: Spermatogenesis associated protein 16 (Testis development protein NYD SP12)
Length: 569 Mass: 65,263
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| Sequence |
MDAGSSRSLENAVNRIYHDQLVPKINTSKKMSTLAHPPNILEMSQEIKKNCGGKQVEITLERTKMTKGIKEKQSN DLEKAAFKRKAEGEEKPTRKKQAKITELDNQLITMPLPHIPLKNIMDVEMKLVYIDEMGVRYEFVESFMSTGSQP TCQAAEIVDPLSVHNFSFLPQIDKWLQVALKDASSCYRQKKYALAAGQFRTALELCSKGAVLGEPFDAPAEDIAS VASFIETKLVTCYLRMRKPDLALNHAHRSIVLNPAYFRNHLRQATVFRCLERYSEAARSAMIADYMFWLGGGREE SISKLIKLYWQAMIEEAITRAESFSVMYTPFATKIRADKIEKVKDAFTKTHPAYAEYMYTDLQALHMLPQTVDWS SFPPQQYLLTLGFKNKDDGKFLEKISSRKLPIFTEHKTPFGLTREDTVRQMETMGKRILPILDFIRSTQLNGSFP ASSGVMEKLQYASLLSQLQRVKEQSQVINQAMAELATIPYLQDISQQEAELLQSLMADAMDTLEGRRNNNERVWN MIQKVGQIEDFLYQLEDSFLKTKKLRTARRQKTKMKRLQTVQQR
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| Structural information |
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| Other Databases |
GeneCards: SPATA16  Malacards: SPATA16 |
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| GO accession | Term name | Evidence code | Go category |
|---|
| GO:0005794 |
Golgi apparatus
|
IEA |
cellular component |
GO:0007275 |
multicellular organism de velopment
|
IEA |
biological process |
GO:0007283 |
spermatogenesis
|
IEA |
biological process |
GO:0030154 |
cell differentiation
|
IEA |
biological process |
GO:0005794 |
Golgi apparatus
|
IEA |
cellular component |
GO:0005794 |
Golgi apparatus
|
IEA |
cellular component |
GO:0005794 |
Golgi apparatus
|
IEA |
cellular component |
GO:0007275 |
multicellular organism de velopment
|
IEA |
biological process |
GO:0007283 |
spermatogenesis
|
IEA |
biological process |
GO:0007283 |
spermatogenesis
|
IEA |
biological process |
GO:0030154 |
cell differentiation
|
IEA |
biological process |
|
|
| Associated diseases |
References |
| Cancer (prostate) | GAD: 22219177 |
| Cancer | GAD: 22219177 |
| Spermatogenesis defects | MIK: 12529416 |
| Spermatogenesis defects | MIK: 12529416 |
| Sertoli cell only syndrome (SCOS) | MIK: 12529416 |
| Globozoospermia | MIK: 24825417 |
| Spermatogenesis defects | OMIM: 609856 |
| Male infertility | MIK: 17847006 |
| Spermatogenic defects | MIK: 30358834 |
| Globozoospermia | MIK: 18547510 |
| Non obstructive azoospermia | MIK: 24012201 |
| Sertoli cell only syndrome | MIK: 23869807 |
| Sertoli cell-only syndrome | MIK: 12529416 |
| Teratozoospermia | MIK: 17327269 |
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|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 12529416 |
Spermatoge nic arrest , Sertoli cell-only syndrome
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|
|
|
Male infertility |
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Show abstract |
| 24825417 |
Globozoosp ermia
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SPATA16 mutation |
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1 globozoosperm ia
|
Male infertility |
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Show abstract |
| 21397063 |
Globozoosp ermia
|
DPY19L2 deletion |
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|
Male infertility |
DPY19L2 SPATA16 PICK1
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Show abstract |
| 18547510 |
Globozoosp ermia
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|
|
|
Male infertility |
SPATA16
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Show abstract |
| 17847006 |
Assocaited with male infertili ty in huma n globozoo spermia
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|
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3 brothers
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Male infertility |
|
Show abstract |
| 29065458 |
Spermatoge nic arrest , Male inf ertility
|
848G?A/R283Q |
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|
Male infertility |
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Show abstract |
| 27918162 |
Important for Sperma togenesis, Male infe rtility
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1526C>T + 1577T>C |
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107 patients wi th infertility (Gene responsib le for mutation in 2 of the pa tients)
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Male infertility |
|
Show abstract |
| 30358834 |
Associated with sper matogenesi s, Male in fertility
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64 (38 oligo-/o ligoastheno-zoo spermic inferti le patients, 26 normozoospermi c fertile men)
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Male infertility |
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Show abstract |
| 17327269 |
Teratozoos permia
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|
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13 (5 controls, 8 cases)
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Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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Show abstract |
| 24012201 |
Non obstru ctive azoo spermia
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|
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31 (4 controls, 27 cases)
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Male infertility |
GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
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Show abstract |
| 23869807 |
Non obstru ctive azoo spermia, S ertoli cel l only syn drome
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|
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20 (4 controls, 16 cases)
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Male infertility |
GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
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Show abstract |
| 27086357 |
Globozoosp ermia
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deletion of 22.6 Kb |
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|
Male infertility |
|
Show abstract |
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