DIPK2B (divergent protein kinase domain 2B)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 79742
Gene name Divergent protein kinase domain 2B
Gene symbol DIPK2B
Synonyms (NCBI Gene)
4930578C19RikCXorf36DIA1REPQL1862PRO3743bA435K1.1
Chromosome X
Chromosome location Xp11.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300959 25866 ENSG00000147113
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H7Y0
Protein name Divergent protein kinase domain 2B (Deleted in autism-related protein 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12260 PIP49_C 211 → 392 Protein-kinase domain of FAM69 Family
Sequence 
MEPQLGPEAAALRPGWLALLLWVSALSCSFSLPASSLSSLVPQVRTSYNFGRTFLGLDKC
NACIGTSICKKFFKEEIRSDNWLASHLGLPPDSLLSYPANYSDDSKIWRPVEIFRLVSKY
QNEISDRRICASASAPKTCSIERVLRKTERFQKWLQAKRLTPDLVQGLASPLLRCPSQRL
LDRVVRRYAEVADAGSIFMDHFTDRDKLRLLYTLAVNSHPILLQIFPGAEGWPLPKYLGS
CGRFLVSTSTRPLQEFYDAPPDQAADLAYQLLGVLESLRSNDLNYFFYFTHIDAGMFGVF
NNGHLFIRDASAVGVIDKQEGSQEANRAGENKDIFSCLVSGCQAQLPSCESISEKQSLVL
VCQKLLPRLLQGRFPSPVQDDIDSILVQCGDSIRPDPEVLGAASQLKDILRPLRTCDSRF
AYRYPDCKYNDKF
Sequence length 433
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DIPK2B-related disorder Benign; Likely benign rs144500092, rs200347329, rs752948825, rs201256036, rs1132201, rs201729915, rs142916210 RCV003911807
RCV003951682
RCV003959284
RCV003956966
RCV003974749
RCV003962318
RCV003930585
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 21264219
Intellectual Disability Associate 21264219
Mental Retardation X Linked Associate 21264219
Neurologic Manifestations Associate 23840464