DIPK2A divergent protein kinase domain 2A [Homo sapiens (human)] - Gene

Summary

Official Symbol: DIPK2Aprovided by HGNC
Official Full Name: divergent protein kinase domain 2Aprovided by HGNC
Primary source: HGNC:HGNC:28490
See related: Ensembl:ENSG00000181744 MIM:612200; AllianceGenome:HGNC:28490
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DIA1; HASF; C3orf58; GoPro49
Summary: Involved in several processes, including cardiac muscle cell proliferation; negative regulation of smooth muscle cell apoptotic process; and positive regulation of protein kinase C activity. Located in Golgi membrane and extracellular space. Part of COPI vesicle coat. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in placenta (RPKM 13.9), bone marrow (RPKM 9.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q24

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (143971798..143992368)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (146718429..146738995)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (143690640..143711210)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DIPK2A promotes STX17- and VAMP7-mediated autophagosome-lysosome fusion by binding to VAMP7B.
Title: DIPK2A promotes STX17- and VAMP7-mediated autophagosome-lysosome fusion by binding to VAMP7B.
HASF (C3orf58) is a novel ligand of IGF1R.
Title: HASF (C3orf58) is a novel ligand of the insulin-like growth factor 1 receptor.
results support a model where the DIA1 and DIA1R regulate molecular traffic through the cellular secretory pathway or affect the function of secreted factors, and functional deficits cause disorders with ASD-like symptoms and/or mental retardation
Title: DIA1R is an X-linked gene related to Deleted In Autism-1.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cardiac muscle cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of smooth muscle cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein kinase C activity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of COPI vesicle coat	IBA Inferred from Biological aspect of Ancestor more info
part_of COPI vesicle coat	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: divergent protein kinase domain 2A

Names: Golgi Protein of 49 kDa; Golgi protein GoPro49; UPF0672 protein C3orf58; deleted in autism 1; deleted in autism protein 1; hypoxia and AKT-induced stem cell factor; hypoxia and Akt induced stem cell factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.