ZCCHC12 (zinc finger CCHC-type containing 12)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 170261
Gene name Zinc finger CCHC-type containing 12
Gene symbol ZCCHC12
Synonyms (NCBI Gene)
PNMA7ASIZNSIZN1
Chromosome X
Chromosome location Xq24
Summary 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.
miRNA miRNA information provided by mirtarbase database.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT039800 hsa-miR-615-3p CLASH 23622248
MIRT1506722 hsa-miR-34c-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0005515 Function Protein binding IPI 25416956, 25910212, 28514442, 32296183, 32814053, 33961781, 35914814
GO:0005634 Component Nucleus IBA
GO:0008270 Function Zinc ion binding IEA
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300701 27273 ENSG00000174460
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PEW1
Protein name Zinc finger CCHC domain-containing protein 12 (Smad-interacting zinc finger protein 1)
Protein function Transcriptional coactivator in the bone morphogenetic protein (BMP)-signaling pathway. It positively modulates BMP signaling by interacting with SMAD1 and associating with CBP in the transcription complex. It contributes to the BMP-induced enhan
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14893 PNMA 3 → 213 PNMA Family
Sequence 
MASIIARVGNSRRLNAPLPPWAHSMLRSLGRSLGPIMASMADRNMKLFSGRVVPAQGEET
FENWLTQVNGVLPDWNMSEEEKLKRLMKTLRGPAREVMRVLQATNPNLSVADFLRAMKLV
FGESESSVTAHGKFFNTLQAQGEKASLYVIRLEVQLQNAIQAGIIAEKDANRTRLQQLLL
GGELSRDLRLRLKDFLRMYANEQERLPNFLELIRMVREEEDWDDAFIKRKRPKRSESMVE
RAVSPVAFQGSPPIVIGSADCNVIEIDDTLDDSDEDVILVESQDPPLPSWGAPPLRDRAR
PQDEVLVIDSPHNSRAQFPSTSGGSGYKNNGPGEMRRARKRKHTIRCSYCGEEGHSKETC
DNESDKAQVFENLIITLQELTHTEMERSRVAPGEYNDFSEPL
Sequence length 402
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ZCCHC12-related disorder Benign rs60448399, rs34318459 RCV003974112
RCV003926261
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Intellectual Disability Associate 23871722
Thyroid Cancer Papillary Associate 36126191