InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KIAA2022

Summary

InnateDB Protein

IDBP-77247.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KIAA2022

Protein Name

KIAA2022

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000055682

InnateDB Gene

IDBG-77243 (KIAA2022)

Protein Structure

UniProt Annotation

Function

May be involved in neuronal development. {ECO:0000250}.

Subcellular Localization

Disease Associations

Mental retardation, X-linked 98 (MRX98) [MIM:300912]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRX98 patients show delayed psychomotor development, absent or poor speech development, and postnatal growth retardation, often with microcephaly. Some patients show autistic behavioral features, such as stereotypic hand movements and repetitive behaviors. Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control. {ECO:0000269PubMed:15466006, ECO:0000269PubMed:23615299}. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving KIAA2022 is found in patients with severe mental retardation. Pericentric inversion inv(X)(p22.3;q13.2) with P2RY8 leading to inactivation of KIAA2022 (PubMed:15466006). {ECO:0000269PubMed:15466006}.

Tissue Specificity

Highly expressed in fetal and adult brain, predominantly in the cerebral cortex and the cerebellum. Also expressed in other tissues but to a lesser extent. {ECO:0000269PubMed:15466006}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003887	DNA-directed DNA polymerase activity
GO:0008408	3'-5' exonuclease activity

Biological Process

GO:0006287	base-excision repair, gap-filling
GO:0006297	nucleotide-excision repair, DNA gap filling
GO:0007346	regulation of mitotic cell cycle
GO:0007399	nervous system development
GO:0043137	DNA replication, removal of RNA primer
GO:0045004	DNA replication proofreading
GO:0090305	nucleic acid phosphodiester bond hydrolysis