THAP12 (THAP domain containing 12)

Gene

• Entrez ID: 5612
• Gene name: THAP domain containing 12
• Gene symbol: THAP12
• Synonyms (NCBI Gene): DAP4, P52rIPK, PRKRIR, THAP0
• Chromosome: 11
• Chromosome location: 11q13.5

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0007165	Process	Signal transduction	TAS	9447982
GO:0008270	Function	Zinc ion binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	9447982
GO:0046872	Function	Metal ion binding	IEA
GO:0046983	Function	Protein dimerization activity	IEA

Other IDs

• MIM: 607374
• HGNC: 9440
• e!Ensembl: ENSG00000137492

Protein

• UniProt ID: O43422
• Protein name: 52 kDa repressor of the inhibitor of the protein kinase (p52rIPK) (58 kDa interferon-induced protein kinase-interacting protein) (p58IPK-interacting protein) (Death-associated protein 4) (THAP domain-containing protein 0) (THAP domain-containing protein 1
• Protein function: Upstream regulator of interferon-induced serine/threonine protein kinase R (PKR). May block the PKR-inhibitory function of DNAJC3, resulting in restoration of kinase activity and suppression of cell growth.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05485	THAP	5 → 86	THAP domain	Domain
  PF14291	DUF4371	111 → 341	Domain of unknown function (DUF4371)	Family
  PF05699	Dimer_Tnp_hAT	634 → 729	hAT family C-terminal dimerisation region	Domain

• Sequence:

  MPNFCAAPNCTRKSTQSDLAFFRFPRDPARCQKWVENCRRADLEDKTPDQLNKHYRLCAK
  HFETSMICRTSPYRTVLRDNAIPTIFDLTSHLNNPHSRHRKRIKELSEDEIRTLKQKKID
  ETSEQEQKHKETNNSNAQNPSEEEGEGQDEDILPLTLEEKENKEYLKSLFEILILMGKQN
  IPLDGHEADEIPEGLFTPDNFQALLECRINSGEEVLRKRFETTAVNTLFCSKTQQRQMLE
  ICESCIREETLREVRDSHFFSIITDDVVDIAGEEHLPVLVRFVDESHNLREEFIGFLPYE
  ADAEILAVKFHTMITEKWGLNMEYCRGQAYIVSSGFSSKMKVVASRLLEKYPQAIYTLCS
  SCALNMWLAKSVPVMGVSVALGTIEEVCSFFHRSPQLLLELDNVISVLFQNSKERGKELK
  EICHSQWTGRHDAFEILVELLQALVLCLDGINSDTNIRWNNYIAGRAFVLCSAVSDFDFI
  VTIVVLKNVLSFTRAFGKNLQGQTSDVFFAAGSLTAVLHSLNEVMENIEVYHEFWFEEAT
  NLATKLDIQMKLPGKFRRAHQGNLESQLTSESYYKETLSVPTVEHIIQELKDIFSEQHLK
  ALKCLSLVPSVMGQLKFNTSEEHHADMYRSDLPNPDTLSAELHCWRIKWKHRGKDIELPS
  TIYEALHLPDIKFFPNVYALLKVLCILPVMKVENERYENGRKRLKAYLRNTLTDQRSSNL
  ALLNINFDIKHDLDLMVDTYIKLYTSKSELPTDNSETVENT

• Sequence length: 761

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Esophageal Squamous Cell Carcinoma	Associate	26857264	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	26857264	★☆☆☆☆ Found in Text Mining only
Nevus Sebaceous of Jadassohn	Associate	33308209	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	26857264	★☆☆☆☆ Found in Text Mining only