ZCCHC12 (zinc finger CCHC-type containing 12)

Gene

• Entrez ID: 170261
• Gene name: Zinc finger CCHC-type containing 12
• Gene symbol: ZCCHC12
• Synonyms (NCBI Gene): PNMA7A, SIZN, SIZN1
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT039800	hsa-miR-615-3p	CLASH	23622248
MIRT1506722	hsa-miR-34c-3p	CLIP-seq

Gene ontology (GO)

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

• MIM: 300701
• HGNC: 27273
• e!Ensembl: ENSG00000174460

Protein

• UniProt ID: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AORTIC ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZCCHC12-related disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Intellectual Disability	Mental retardation	BEFREE	21172456		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23871722	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	28424903		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	21172456		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	18798319, 19416967, 21172456		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	18798319		★☆☆☆☆ Found in Text Mining only
Nodular Goiter	Nodular Goiter	BEFREE	21739307		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	21739307, 28424903		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	30431698		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36126191	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	28424903		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28424903		★☆☆☆☆ Found in Text Mining only