DIPK1A (divergent protein kinase domain 1A)

Gene

• Entrez ID: 388650
• Gene name: Divergent protein kinase domain 1A
• Gene symbol: DIPK1A
• Synonyms (NCBI Gene): FAM69A
• Chromosome: 1
• Chromosome location: 1p22.1
• Summary: This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isof

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 614542
• HGNC: 32213
• e!Ensembl: ENSG00000154511

Protein

• UniProt ID: Q5T7M9
• Protein name: Divergent protein kinase domain 1A (Protein FAM69A)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14875	PIP49_N	19 → 176	N-term cysteine-rich ER, FAM69	Domain
  PF12260	PIP49_C	194 → 396	Protein-kinase domain of FAM69	Family

• Sequence:

  MARSLCPGAWLRKPYYLQARFSYVRMKYLFFSWLVVFVGSWIIYVQYSTYTELCRGKDCK
  KIICDKYKTGVIDGPACNSLCVTETLYFGKCLSTKPNNQMYLGIWDNLPGVVKCQMEQAL
  HLDFGTELEPRKEIVLFDKPTRGTTVQKFKEMVYSLFKAKLGDQGNLSELVNLILTVADG
  DKDGQVSLGEAKSAWALLQLNEFLLMVILQDKEHTPKLMGFCGDLYVMESVEYTSLYGIS
  LPWVIELFIPSGFRRSMDQLFTPSWPRKAKIAIGLLEFVEDVFHGPYGNFLMCDTSAKNL
  GYNDKYDLKMVDMRKIVPETNLKELIKDRHCESDLDCVYGTDCRTSCDQSTMKCTSEVIQ
  PNLAKACQLLKDYLLRGAPSEIREELEKQLYSCIALKVTANQMEMEHSLILNNLKTLLWK
  KISYTNDS

• Sequence length: 428

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
ANEMIA, DIAMOND-BLACKFAN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APLASTIC ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF OVARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAMOND-BLACKFAN ANEMIA 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROID HYPOPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATION OF AURICLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ARTERIAL HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR HYDROCELE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aase Smith syndrome 2	Aase-Smith syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	CLINVAR_DG	19061985, 19773262, 23718193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplastic Anemia	Aplastic anemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of ovary	Aplasia of the ovary	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diamond-Blackfan Anemia 1	Diamond-Blackfan anemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythroid hypoplasia	Erythroid hypoplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangioma	Hemangioma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	GWASDB_DG	20889312		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	GWASCAT_DG	20889312		★☆☆☆☆ Found in Text Mining only
Microspherocytosis	Microspherocytosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	19061985		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	20087403	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia Gravis	BEFREE	30696470		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	30696470	Associate	★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	30696470	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	GWASCAT_DG	20889312		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	GWASDB_DG	20889312		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Relative macrocephaly	Macrocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations