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Aliases for NEXMIF Gene

Aliases for NEXMIF Gene

  • Neurite Extension And Migration Factor 2 3 5
  • KIAA2022 2 3 4
  • XLMR-Related Protein, Neurite Extension 2 3
  • XLMR Protein Related To Neurite Extension 3
  • Protein KIAA2022 3
  • KIDLIA 3
  • MRX98 3
  • XPN 3

External Ids for NEXMIF Gene

Previous HGNC Symbols for NEXMIF Gene

  • KIAA2022

Summaries for NEXMIF Gene

Entrez Gene Summary for NEXMIF 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 cognitive disability.[provided by RefSeq, Mar 2009]

GeneCards Summary for NEXMIF Gene

NEXMIF (Neurite Extension And Migration Factor) is a Protein Coding gene. Diseases associated with NEXMIF include Mental Retardation, X-Linked 98 and Xanthogranulomatous Pyelonephritis. An important paralog of this gene is REV3L.

UniProtKB/Swiss-Prot for NEXMIF Gene

  • May be involved in neuronal development.

Additional gene information for NEXMIF Gene

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

Genomics for NEXMIF Gene

Regulatory Elements for NEXMIF Gene

Enhancers for NEXMIF 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
GH0XH073943 1.2 ENCODE 22.9 +980.9 980946 2.2 MLX FEZF1 DMAP1 YBX1 YY1 ZNF416 ZNF143 ZNF548 SP3 ZC3H11A FTX ENSG00000271199 RAB11FIP1P1 JPX DDX3P1 RN7SL648P CHIC1 ENSG00000228906 TOMM20P4 ENSG00000271533
GH0XH074923 0.5 FANTOM5 4.8 +2.0 1964 0.2 CBFB IKZF1 IKZF2 NEXMIF PIR37292
GH0XH074324 0.5 ENCODE 3.4 +599.6 599596 2.2 MXI1 RFX1 POU5F1 KDM1A RAD21 ZCCHC13 FTX JPX NEXMIF ENSG00000226515
GH0XH074924 0.5 FANTOM5 3.3 +1.4 1440 0 PKNOX1 MLLT1 NEXMIF PIR37292
GH0XH074925 0.8 ENCODE 0.7 +0.6 556 1.7 CTCF PKNOX1 MXI1 MAX BACH1 SIN3A EBF1 CTBP1 POLR2A ZNF547 NEXMIF PIR37292
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NEXMIF on UCSC Golden Path with GeneCards custom track

Promoters for NEXMIF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247284 485 1600 CTCF PKNOX1 MXI1 MAX BACH1 SIN3A EBF1 CTBP1 POLR2A ZNF547

Genomic Locations for NEXMIF Gene

Genomic Locations for NEXMIF Gene
chrX:74,732,849-74,925,485
(GRCh38/hg38)
Size:
192,637 bases
Orientation:
Minus strand
chrX:73,952,684-74,145,287
(GRCh37/hg19)

Genomic View for NEXMIF Gene

Genes around NEXMIF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEXMIF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEXMIF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEXMIF Gene

Proteins for NEXMIF Gene

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

    Protein Symbol:
    Q5QGS0-K2022_HUMAN
    Recommended name:
    Protein KIAA2022
    Protein Accession:
    Q5QGS0
    Secondary Accessions:
    • A7YY87
    • Q5JUX9
    • Q8IVE9

    Protein attributes for NEXMIF 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 NEXMIF Gene

Post-translational modifications for NEXMIF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NEXMIF Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NEXMIF Gene

Domains & Families for NEXMIF Gene

Gene Families for NEXMIF Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NEXMIF Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for NEXMIF Gene

Function for NEXMIF Gene

Molecular function for NEXMIF Gene

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

Phenotypes for NEXMIF Gene

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

Human Phenotype Ontology for NEXMIF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for NEXMIF Gene

miRTarBase miRNAs that target NEXMIF

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for NEXMIF Gene

Localization for NEXMIF Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEXMIF gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Midbody (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NEXMIF Gene

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

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

Pathways & Interactions for NEXMIF Gene

SuperPathways for NEXMIF Gene

No Data Available

Interacting Proteins for NEXMIF Gene

Gene Ontology (GO) - Biological Process for NEXMIF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0042276 error-prone translesion synthesis IBA --
genes like me logo Genes that share ontologies with NEXMIF: view

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

Drugs & Compounds for NEXMIF Gene

No Compound Related Data Available

Transcripts for NEXMIF Gene

mRNA/cDNA for NEXMIF Gene

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for NEXMIF Gene

GeneLoc Exon Structure for
NEXMIF
ECgene alternative splicing isoforms for
NEXMIF

Expression for NEXMIF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of NEXMIF Gene:

NEXMIF

mRNA Expression by UniProt/SwissProt for NEXMIF 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.

Evidence on tissue expression from TISSUES for NEXMIF Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NEXMIF Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Thorax:
  • chest wall
  • esophagus
Abdomen:
  • abdominal wall
  • stomach
Pelvis:
  • penis
  • testicle
General:
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with NEXMIF: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for NEXMIF Gene

Orthologs for NEXMIF Gene

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

Orthologs for NEXMIF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA2022 33
  • 97.8 (n)
cow
(Bos Taurus)
Mammalia KIAA2022 34 33
  • 91.92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA2022 34 33
  • 91.41 (n)
OneToOne
mouse
(Mus musculus)
Mammalia C77370 34 16 33
  • 87.75 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1561931 33
  • 87.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA2022 34
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA2022 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA2022 34 33
  • 70.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA2022 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa2022 33
  • 64 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC796115 33
  • 57.04 (n)
KIAA2022 34
  • 44 (a)
OneToOne
Dr.15375 33
worm
(Caenorhabditis elegans)
Secernentea Y37B11A.2 34
  • 10 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REV3 34
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 8 (a)
ManyToMany
Species where no ortholog for NEXMIF 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 NEXMIF Gene

ENSEMBL:
Gene Tree for NEXMIF (if available)
TreeFam:
Gene Tree for NEXMIF (if available)

Paralogs for NEXMIF Gene

Paralogs for NEXMIF Gene

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

Variants for NEXMIF Gene

Sequence variations from dbSNP and Humsavar for NEXMIF Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1057518728 Pathogenic 74,740,308(-) TGCCT(-/T)GGTTA reference, frameshift-variant
rs1057518730 Pathogenic 74,743,180(-) GGACT(-/GT)AGTCG reference, frameshift-variant
rs397518478 Pathogenic 74,740,959(-) AAAAA(-/A)TCCCT reference, frameshift-variant
rs397518479 Pathogenic 74,744,374(-) TATCC(-/C)AGAGG reference, frameshift-variant
rs727503977 Pathogenic 74,742,975(-) AAAAG(-/A)GAAGA reference, frameshift-variant

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

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

Variation tolerance for NEXMIF 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 NEXMIF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEXMIF

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

Disorders for NEXMIF Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mental retardation, x-linked 98
  • x-linked mental retardation 98
xanthogranulomatous pyelonephritis
  • pyelonephritis, xanthogranulomatous
- 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 NEXMIF

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

No data available for Genatlas for NEXMIF Gene

Publications for NEXMIF 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 HY (Human molecular genetics 2013) 2 3 4 60
  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 (Journal of medical genetics 2004) 2 3 4 60
  3. The X-Linked Autism Protein KIAA2022/KIDLIA Regulates Neurite Outgrowth via N-Cadherin and δ-Catenin Signaling. (PMID: 27822498) Gilbert J … Man HY (eNeuro 2016) 2 3 60
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 60
  5. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. (PMID: 27358180) de Lange IM … Koeleman BP (Journal of medical genetics 2016) 3 60

Products for NEXMIF Gene

Sources for NEXMIF Gene

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