NEXMIF neurite extension and migration factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEXMIFprovided by HGNC
Official Full Name: neurite extension and migration factorprovided by HGNC
Primary source: HGNC:HGNC:29433
See related: Ensembl:ENSG00000050030 MIM:300524; AllianceGenome:HGNC:29433
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: XPN; MRX98; KIDLIA; XLID98; KIAA2022
Summary: 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]
Expression: Biased expression in brain (RPKM 2.3), adrenal (RPKM 0.6) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq13.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (74732856..74925452, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (73166463..73359096, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (73952691..74145287, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

[Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene].", trans "Epilepsiya i drugie fenotipicheskie osobennosti X-stseplennoi intellektual'noi nedostatochnosti, obuslovlennoi mutatsiyami gena KIAA2022.
Title: [Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene].
Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation.
Title: Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation.
NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.", trans "NEXMIF2.
Title: NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.
NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.
Title: NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Title: NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients.
Title: Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients.
Clinical spectrum of KIAA2022 pathogenic variants in males.[review]
Title: Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.
This study supports KIAA2022 as a novel cause of X-linked dominant intellectual disability, and broadens the phenotype for KIAA2022 mutations.
Title: De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
This is a study of the novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
Title: Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
Heterozygous loss of KIAA2022 expression is a cause of intellectual disability in females. Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy.
Title: De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

Associated conditions

Description	Tests
Non-syndromic X-linked intellectual disability MedGen: C3501611 GeneReviews: Not available	Compare labs
X-linked intellectual disability, Cantagrel type MedGen: C3806730 OMIM: 300912 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2019-06-26) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2019-06-26) ClinGen Genome Curation PagePubMed

Variation

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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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Markers

G35474 (e-PCR)
- UniSTS:7943

RH36660 (e-PCR)
- UniSTS:85790

DXS8092 (e-PCR)
- UniSTS:24611

AF020169 (e-PCR)
- UniSTS:54570

A006V02 (e-PCR)
- UniSTS:7038

AF020127 (e-PCR)
- UniSTS:6566

DXS7722 (e-PCR)
- UniSTS:41150

A002N28 (e-PCR)
- UniSTS:61410

RH18195 (e-PCR)
- UniSTS:46051

DXS8037 (e-PCR), detects polymorphism
- UniSTS:14836

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in negative regulation of cell adhesion mediated by integrin	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell-cell adhesion mediated by cadherin	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of neuron migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in midbody	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: neurite extension and migration factor

Names: XLMR protein related to neurite extension; XLMR-related protein, neurite extension

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.