DIPK2A (divergent protein kinase domain 2A)

Gene

• Entrez ID: 205428
• Gene name: Divergent protein kinase domain 2A
• Gene symbol: DIPK2A
• Synonyms: 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:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	23784961
GO:0014066	Process	Regulation of phosphatidylinositol 3-kinase signaling	IBA	21873635
GO:0014066	Process	Regulation of phosphatidylinositol 3-kinase signaling	IDA	23784961
GO:0030126	Component	COPI vesicle coat	IBA	21873635
GO:0030126	Component	COPI vesicle coat	IDA	18651652
GO:0034392	Process	Negative regulation of smooth muscle cell apoptotic process	IDA	24269490
GO:0060038	Process	Cardiac muscle cell proliferation	IBA	21873635
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

Causal
Disease name	Disease term	dbSNP ID	References
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	21283809
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	18621663