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Aliases for KIAA2022 Gene

Aliases for KIAA2022 Gene

  • KIAA2022 2 3
  • MRX98 3 6
  • XLMR Protein Related To Neurite Extension 3
  • XLMR-Related Protein, Neurite Extension 3
  • XLMR-Related Protein 2
  • Neurite Extension 2
  • Protein KIAA2022 3
  • XPN 3

External Ids for KIAA2022 Gene

Previous GeneCards Identifiers for KIAA2022 Gene

  • GC0XM072167
  • GC0XM072820
  • GC0XM073736
  • GC0XM073872
  • GC0XM067587

Summaries for KIAA2022 Gene

Entrez Gene Summary for KIAA2022 Gene

  • An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked mental retardation.[provided by RefSeq, Mar 2009]

GeneCards Summary for KIAA2022 Gene

KIAA2022 (KIAA2022) is a Protein Coding gene. Diseases associated with KIAA2022 include mental retardation, x-linked 98 and kiaa2022-related x-linked mental retardation. GO annotations related to this gene include DNA-directed DNA polymerase activity and 3-5 exonuclease activity. An important paralog of this gene is REV3L.

UniProtKB/Swiss-Prot for KIAA2022 Gene

  • May be involved in neuronal development.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA2022 Gene

Genomics for KIAA2022 Gene

Regulatory Elements for KIAA2022 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KIAA2022 Gene

74,732,849 bp from pter
74,925,485 bp from pter
192,637 bases
Minus strand

Genomic View for KIAA2022 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIAA2022 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA2022 Gene

Proteins for KIAA2022 Gene

  • Protein details for KIAA2022 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein KIAA2022
    Protein Accession:
    Secondary Accessions:
    • A7YY87
    • Q5JUX9
    • Q8IVE9

    Protein attributes for KIAA2022 Gene

    1516 amino acids
    Molecular mass:
    167551 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC23118.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KIAA2022 Gene

Proteomics data for KIAA2022 Gene at MOPED

Post-translational modifications for KIAA2022 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KIAA2022 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KIAA2022 Gene

Domains for KIAA2022 Gene

Protein Domains for KIAA2022 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA2022: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for KIAA2022 Gene

Function for KIAA2022 Gene

Molecular function for KIAA2022 Gene

UniProtKB/Swiss-Prot Function:
May be involved in neuronal development.

Gene Ontology (GO) - Molecular Function for KIAA2022 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003887 DNA-directed DNA polymerase activity IBA --
GO:0008408 3-5 exonuclease activity --
genes like me logo Genes that share ontologies with KIAA2022: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KIAA2022

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KIAA2022 Gene

Localization for KIAA2022 Gene

Subcellular locations from

Jensen Localization Image for KIAA2022 Gene COMPARTMENTS Subcellular localization image for KIAA2022 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for KIAA2022 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0016035 zeta DNA polymerase complex IBA --
GO:0043625 delta DNA polymerase complex --
genes like me logo Genes that share ontologies with KIAA2022: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KIAA2022 Gene

Pathways for KIAA2022 Gene

SuperPathways for KIAA2022 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA2022 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006261 DNA-dependent DNA replication IBA --
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 IEA --
genes like me logo Genes that share ontologies with KIAA2022: view

No data available for Pathways by source for KIAA2022 Gene

Transcripts for KIAA2022 Gene

mRNA/cDNA for KIAA2022 Gene

Unigene Clusters for KIAA2022 Gene

Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KIAA2022

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA2022 Gene

No ASD Table

Relevant External Links for KIAA2022 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KIAA2022 Gene

mRNA expression in normal human tissues for KIAA2022 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for KIAA2022 Gene

This gene is overexpressed in Cervix (39.8), Bone (15.1), and Lung (14.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for KIAA2022 Gene

SOURCE GeneReport for Unigene cluster for KIAA2022 Gene Hs.124128

mRNA Expression by UniProt/SwissProt for KIAA2022 Gene

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.
genes like me logo Genes that share expressions with KIAA2022: view

Expression partners for KIAA2022 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for KIAA2022 Gene

Orthologs for KIAA2022 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KIAA2022 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia KIAA2022 35
  • 91.92 (n)
  • 90.82 (a)
KIAA2022 36
  • 91 (a)
(Canis familiaris)
Mammalia KIAA2022 35
  • 91.41 (n)
  • 90.42 (a)
KIAA2022 36
  • 90 (a)
(Mus musculus)
Mammalia C77370 35
  • 87.75 (n)
  • 85.99 (a)
C77370 16
C77370 36
  • 86 (a)
(Pan troglodytes)
Mammalia KIAA2022 35
  • 97.8 (n)
  • 97.31 (a)
(Rattus norvegicus)
Mammalia RGD1561931 35
  • 87.59 (n)
  • 86.6 (a)
(Monodelphis domestica)
Mammalia KIAA2022 36
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia KIAA2022 36
  • 61 (a)
(Gallus gallus)
Aves KIAA2022 35
  • 70.14 (n)
  • 65.44 (a)
KIAA2022 36
  • 62 (a)
(Anolis carolinensis)
Reptilia KIAA2022 36
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa2022 35
  • 64 (n)
  • 59.4 (a)
(Danio rerio)
Actinopterygii Dr.15375 35
LOC796115 35
  • 57.04 (n)
  • 49.21 (a)
KIAA2022 36
  • 44 (a)
(Caenorhabditis elegans)
Secernentea Y37B11A.2 36
  • 10 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REV3 36
  • 8 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 8 (a)
Species with no ortholog for KIAA2022:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIAA2022 Gene

Gene Tree for KIAA2022 (if available)
Gene Tree for KIAA2022 (if available)

Paralogs for KIAA2022 Gene

Paralogs for KIAA2022 Gene

genes like me logo Genes that share paralogs with KIAA2022: view

Variants for KIAA2022 Gene

Sequence variations from dbSNP and Humsavar for KIAA2022 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1157490 -- 74,799,699(-) GAGCC(A/G)TGATC intron-variant
rs1343191 -- 74,846,769(+) GGCAC(A/G)TACCC intron-variant
rs1361828 -- 74,893,519(+) ATTTT(C/G)TGTGC intron-variant
rs1418989 -- 74,901,322(+) ATCTC(A/C)TAGGT intron-variant
rs1573169 -- 74,907,007(+) TCAGG(G/T)CACCT intron-variant

Relevant External Links for KIAA2022 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KIAA2022 Gene

Disorders for KIAA2022 Gene

(1) OMIM Diseases for KIAA2022 Gene (300524)


  • 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:0000269 PubMed:15466006, ECO:0000269 PubMed: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:0000269 PubMed:15466006}.

(1) University of Copenhagen DISEASES for KIAA2022 Gene

genes like me logo Genes that share disorders with KIAA2022: view

No data available for Novoseek inferred disease relationships , Genatlas and External Links for KIAA2022 Gene

Publications for KIAA2022 Gene

  1. Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. (PMID: 15466006) Cantagrel V. … Villard L. (J. Med. Genet. 2004) 2 3 4
  2. Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. (PMID: 23615299) Van Maldergem L. … Man H.Y. (Hum. Mol. Genet. 2013) 2 3 4
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3

Products for KIAA2022 Gene

Sources for KIAA2022 Gene

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