DIPK2A (divergent protein kinase domain 2A)

Gene

• Entrez ID: 205428
• Gene name: Divergent protein kinase domain 2A
• Gene symbol: DIPK2A
• Synonyms (NCBI Gene): C3orf58, DIA1, GoPro49, HASF
• Chromosome: 3
• Chromosome location: 3q24

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	18651652
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	23784961
GO:0005794	Component	Golgi apparatus	IEA
GO:0030126	Component	COPI vesicle coat	IBA
GO:0030126	Component	COPI vesicle coat	IDA	18651652
GO:0030137	Component	COPI-coated vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034392	Process	Negative regulation of smooth muscle cell apoptotic process	IDA	24269490
GO:0034392	Process	Negative regulation of smooth muscle cell apoptotic process	IEA
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	23784961
GO:0060038	Process	Cardiac muscle cell proliferation	IBA
GO:0060038	Process	Cardiac muscle cell proliferation	IDA	23784961
GO:1900020	Process	Positive regulation of protein kinase C activity	IGI	24269490

Other IDs

• MIM: 612200
• HGNC: 28490
• e!Ensembl: ENSG00000181744

Protein

• UniProt ID: Q8NDZ4
• Protein name: Divergent protein kinase domain 2A (Deleted in autism protein 1) (Golgi Protein of 49 kDa) (GoPro49) (Hypoxia and AKT-induced stem cell factor) (HASF)
• Protein function: May play a role in cardiomyocyte proliferation through paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling cascade.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12260	PIP49_C	206 → 405	Protein-kinase domain of FAM69	Family

• Sequence:

  MWRLVPPKLGRLSRSLKLAALGSLLVLMVLHSPSLLASWQRNELTDRRFLQLNKCPACFG
  TSWCRRFLNGQVVFEAWGRLRLLDFLNVKNVYFAQYGEPREGGRRRVVLKRLGSQRELAQ
  LDQSICKRATGRPRCDLLQAMPRTEFARLNGDVRLLTPEAVEGWSDLVHCPSQRLLDRLV
  RRYAETKDSGSFLLRNLKDSERMQLLLTLAFNPEPLVLQSFPSDEGWPFAKYLGACGRMV
  AVNYVGEELWSYFNAPWEKRVDLAWQLMEIAEQLTNNDFEFALYLLDVSFDNFAVGPRDG
  KVIIVDAENVLVADKRLIRQNKPENWDVWYESKFDDCDKEACLSFSKEILCARATVDHNY
  YAVCQNLLSRHATWRGTSGGLLHDPPSEIAKDGRLEALLDECANPKKRYGRFQAAKELRE
  YLAQLSNNVR

• Sequence length: 430

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
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21283809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	21283809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	18621663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	21264219, 21283809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	21264219, 23840464	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognitive disorder	BEFREE	21283809		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	21264219	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21283809		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	25744544		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12226751, 17575049		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	21283809		★☆☆☆☆ Found in Text Mining only
Methemoglobinemia, Type I	Methemoglobinemia	BEFREE	10874300		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24269490		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	25744544		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25744544		★☆☆☆☆ Found in Text Mining only