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Aliases for KIAA2022 Gene

Aliases for KIAA2022 Gene

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

Enhancers for KIAA2022 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around KIAA2022 on UCSC Golden Path with GeneCards custom track

Promoters for KIAA2022 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for KIAA2022 Gene

Chromosome:
X
Start:
74,732,849 bp from pter
End:
74,925,485 bp from pter
Size:
192,637 bases
Orientation:
Minus strand

Genomic View for KIAA2022 Gene

Genes around KIAA2022 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA2022 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q5QGS0-K2022_HUMAN
    Recommended name:
    Protein KIAA2022
    Protein Accession:
    Q5QGS0
    Secondary Accessions:
    • A7YY87
    • Q5JUX9
    • Q8IVE9

    Protein attributes for KIAA2022 Gene

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

neXtProt entry for KIAA2022 Gene

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 & Families for KIAA2022 Gene

Gene Families for KIAA2022 Gene

Protein Domains for KIAA2022 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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.

Phenotypes for KIAA2022 Gene

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

Human Phenotype Ontology for KIAA2022 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA2022 Gene

Localization for KIAA2022 Gene

Subcellular locations from

COMPARTMENTS
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 --
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 & Interactions 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:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with KIAA2022: view

No data available for Pathways by source and SIGNOR curated interactions for KIAA2022 Gene

Drugs & Compounds for KIAA2022 Gene

No Compound Related Data Available

Transcripts for KIAA2022 Gene

mRNA/cDNA for KIAA2022 Gene

Unigene Clusters for KIAA2022 Gene

KIAA2022:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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
KIAA2022
ECgene alternative splicing isoforms for
KIAA2022

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 from HIPED for KIAA2022 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KIAA2022 Gene



Protein tissue co-expression partners for KIAA2022 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIAA2022 Gene:

KIAA2022

SOURCE GeneReport for Unigene cluster for KIAA2022 Gene:

Hs.124128

mRNA Expression by UniProt/SwissProt for KIAA2022 Gene:

Q5QGS0-K2022_HUMAN
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 expression patterns with KIAA2022: view

Primer 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
cow
(Bos Taurus)
Mammalia KIAA2022 34
  • 91.92 (n)
  • 90.82 (a)
KIAA2022 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA2022 34
  • 91.41 (n)
  • 90.42 (a)
KIAA2022 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C77370 34
  • 87.75 (n)
  • 85.99 (a)
C77370 16
C77370 35
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIAA2022 34
  • 97.8 (n)
  • 97.31 (a)
rat
(Rattus norvegicus)
Mammalia RGD1561931 34
  • 87.59 (n)
  • 86.6 (a)
oppossum
(Monodelphis domestica)
Mammalia KIAA2022 35
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA2022 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA2022 34
  • 70.14 (n)
  • 65.44 (a)
KIAA2022 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA2022 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa2022 34
  • 64 (n)
  • 59.4 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.15375 34
LOC796115 34
  • 57.04 (n)
  • 49.21 (a)
KIAA2022 35
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y37B11A.2 35
  • 10 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REV3 35
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 8 (a)
ManyToMany
Species where no ortholog for KIAA2022 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for KIAA2022 (if available)
TreeFam:
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
rs12851763 - 74,741,222(+) ACTTG(A/G)TTTTT reference, missense
rs747672466 -- 74,741,981(+) AGTCC(C/T)GGGTA reference, missense
rs747676418 -- 74,822,971(+) TTATG(-/AATA)AATAA intron-variant
rs747715432 -- 74,845,692(+) CAATG(C/T)ATAAT intron-variant
rs747715568 -- 74,918,674(+) GAAAT(-/ATAATCATGAA)ATGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA2022 Gene

Variant ID Type Subtype PubMed ID
dgv2308e212 CNV loss 25503493
esv3574058 CNV loss 25503493
esv3574059 CNV loss 25503493
nsv1117911 CNV tandem duplication 24896259
nsv1129086 CNV duplication 24896259
nsv1132244 CNV deletion 24896259
nsv1141689 CNV duplication 24896259
nsv1149078 CNV duplication 26484159
nsv1151385 CNV insertion 26484159

Variation tolerance for KIAA2022 Gene

Residual Variation Intolerance Score: 2.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.67; 31.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA2022 Gene

Human Gene Mutation Database (HGMD)
KIAA2022
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA2022

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA2022 Gene

Disorders for KIAA2022 Gene

MalaCards: The human disease database

(5) MalaCards diseases for KIAA2022 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked 98
  • x-linked intellectual disability, cantagrel type
kiaa2022-related x-linked mental retardation
xanthogranulomatous pyelonephritis
  • pyelonephritis, xanthogranulomatous
pyelitis
  • pyelitis nos
chronic pyelonephritis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

K2022_HUMAN
  • 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}.

Relevant External Links for KIAA2022

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA2022
genes like me logo Genes that share disorders with KIAA2022: view

No data available for Genatlas for KIAA2022 Gene

Publications for KIAA2022 Gene

  1. 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 65
  2. 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 65
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 65
  4. A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism. (PMID: 25394356) Charzewska A. … Hoffman-Zacharska D. (Clin. Genet. 2015) 3 65
  5. Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features. (PMID: 25900396) Kuroda Y. … Kurosawa K. (Am. J. Med. Genet. A 2015) 3 65

Products for KIAA2022 Gene

Sources for KIAA2022 Gene

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