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Gene id 170261
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol ZCCHC12   Gene   UCSC   Ensembl
Aliases PNMA7A, SIZN, SIZN1
Gene name zinc finger CCHC-type containing 12
Alternate names zinc finger CCHC domain-containing protein 12, paraneoplastic Ma antigen family member 7A, smad-interacting zinc finger protein 1, zinc finger, CCHC domain containing 12,
Gene location Xq24 (118823823: 118826967)     Exons: 4     NC_000023.11
Gene summary(Entrez) This gene encodes a downstream effector of bone morphogenetic protein (BMP) signalling. This protein contains a zinc finger domain and functions as a transcriptional coactivator. Variation in this gene may be associated with X-linked cognitive disability.
OMIM 151510

Protein Summary
Protein general information Q6PEW1  

Name: Zinc finger CCHC domain containing protein 12 (Smad interacting zinc finger protein 1)

Length: 402  Mass: 45369

Sequence MASIIARVGNSRRLNAPLPPWAHSMLRSLGRSLGPIMASMADRNMKLFSGRVVPAQGEETFENWLTQVNGVLPDW
NMSEEEKLKRLMKTLRGPAREVMRVLQATNPNLSVADFLRAMKLVFGESESSVTAHGKFFNTLQAQGEKASLYVI
RLEVQLQNAIQAGIIAEKDANRTRLQQLLLGGELSRDLRLRLKDFLRMYANEQERLPNFLELIRMVREEEDWDDA
FIKRKRPKRSESMVERAVSPVAFQGSPPIVIGSADCNVIEIDDTLDDSDEDVILVESQDPPLPSWGAPPLRDRAR
PQDEVLVIDSPHNSRAQFPSTSGGSGYKNNGPGEMRRARKRKHTIRCSYCGEEGHSKETCDNESDKAQVFENLII
TLQELTHTEMERSRVAPGEYNDFSEPL
Structural information
Interpro:  IPR026523  IPR036875  
STRING:   ENSP00000308921
Other Databases GeneCards:  ZCCHC12  Malacards:  ZCCHC12

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0046872 metal ion binding
 IEA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:1903508 positive regulation of nu
cleic acid-templated tran
scription
 IEA biological process
GO:0030509 BMP signaling pathway
 IBA biological process
GO:0030374 nuclear receptor transcri
ption coactivator activit
y
 IBA molecular function
GO:0016607 nuclear speck
 IBA cellular component
GO:0008270 zinc ion binding
 IEA molecular function
GO:0003676 nucleic acid binding
 IEA molecular function
GO:0046872 metal ion binding
 IEA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:1903508 positive regulation of nu
cleic acid-templated tran
scription
 IEA biological process
GO:0030509 BMP signaling pathway
 IBA biological process
GO:0030374 nuclear receptor transcri
ption coactivator activit
y
 IBA molecular function
GO:0016607 nuclear speck
 IBA cellular component
GO:0008270 zinc ion binding
 IEA molecular function
GO:0003676 nucleic acid binding
 IEA molecular function

Diseases

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

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract