Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	340533
Gene name Gene Name - the full gene name approved by the HGNC.	Neurite extension and migration factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NEXMIF
Synonyms (NCBI Gene) Gene synonyms aliases	KIAA2022, KIDLIA, MRX98, XLID98, XPN
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq13.3
Summary Summary of gene provided in NCBI Entrez 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]

Show/Hide all(57)

SNP ID	Visualize variation	Clinical significance	Consequence
rs186535459	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199960807	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs397518478	->T	Pathogenic	Frameshift variant, coding sequence variant
rs397518479	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs727503977	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs758719615	G>A,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs786205208	G>A	Pathogenic	Stop gained, coding sequence variant
rs797045646	->GAAA	Pathogenic	Frameshift variant, coding sequence variant
rs875989829	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs878854418	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs878854419	GATATCATCATCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs878854423	->G	Pathogenic	Frameshift variant, coding sequence variant
rs878854425	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041427	->TTTAAATTTGATTTTATTGAGCACTTTCCTCTCT	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs886041570	CCAGCAGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041701	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041774	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041971	G>A	Pathogenic	Stop gained, coding sequence variant
rs886042023	G>T	Pathogenic	Stop gained, coding sequence variant
rs886042158	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518728	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1057518730	CA>-	Pathogenic	Coding sequence variant, stop gained
rs1060499652	G>T	Pathogenic	Coding sequence variant, stop gained
rs1064796882	G>A	Pathogenic	Coding sequence variant, stop gained
rs1556016224	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1556016292	ACCTTTGAGGGATTTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016350	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016352	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016381	ACTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016438	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016529	TTA>GT	Pathogenic	Frameshift variant, coding sequence variant
rs1556016555	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016632	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016642	CTCTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016723	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1556016724	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016731	G>A	Pathogenic	Stop gained, coding sequence variant
rs1556016735	A>C	Pathogenic	Stop gained, coding sequence variant
rs1556016802	G>T	Pathogenic	Stop gained, coding sequence variant
rs1569334937	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569335056	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569335135	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569335235	G>T	Pathogenic	Coding sequence variant, stop gained
rs1569335265	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569335485	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569335666	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1569335738	C>A	Pathogenic	Coding sequence variant, stop gained
rs1569335877	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569335893	C>A	Pathogenic	Coding sequence variant, stop gained
rs1569336024	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1602210960	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602211044	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1602211123	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1602211753	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602211981	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1602212618	ACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602212778	TAGAT>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT522849	hsa-miR-3133	HITS-CLIP	21572407
MIRT522848	hsa-miR-8485	HITS-CLIP	21572407
MIRT522847	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT522846	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT522845	hsa-miR-603	HITS-CLIP	21572407
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT522844	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT522843	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT522842	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT522841	hsa-miR-3941	HITS-CLIP	21572407
MIRT522840	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT522839	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT522838	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT522837	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT522847	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT522846	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT522845	hsa-miR-603	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522844	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT522841	hsa-miR-3941	HITS-CLIP	23824327
MIRT522840	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT522847	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT522846	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT522845	hsa-miR-603	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522844	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT522841	hsa-miR-3941	HITS-CLIP	23824327
MIRT522840	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT632802	hsa-miR-4323	HITS-CLIP	23824327
MIRT632801	hsa-miR-3943	HITS-CLIP	23824327
MIRT632800	hsa-miR-6769a-3p	HITS-CLIP	23824327
MIRT630970	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT630969	hsa-miR-1470	HITS-CLIP	23824327
MIRT630968	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT632799	hsa-miR-600	HITS-CLIP	23824327
MIRT632798	hsa-miR-4672	HITS-CLIP	23824327
MIRT632797	hsa-miR-466	HITS-CLIP	23824327
MIRT630967	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT522845	hsa-miR-603	HITS-CLIP	23824327
MIRT630970	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT630969	hsa-miR-1470	HITS-CLIP	23824327
MIRT630968	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT630967	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522849	hsa-miR-3133	PAR-CLIP	21572407
MIRT522848	hsa-miR-8485	PAR-CLIP	21572407
MIRT522847	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT522846	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT522845	hsa-miR-603	PAR-CLIP	21572407
MIRT379771	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT522844	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT522843	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT522842	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT522841	hsa-miR-3941	PAR-CLIP	21572407
MIRT522840	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT522839	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT522838	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT522837	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT522848	hsa-miR-8485	PAR-CLIP	21572407
MIRT522847	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT522846	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT522845	hsa-miR-603	PAR-CLIP	21572407
MIRT379771	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT522844	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT522841	hsa-miR-3941	PAR-CLIP	21572407
MIRT522840	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT522839	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT522848	hsa-miR-8485	PAR-CLIP	21572407
MIRT522847	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT522846	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT522845	hsa-miR-603	PAR-CLIP	21572407
MIRT379771	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT522844	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT522843	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT522842	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT522841	hsa-miR-3941	PAR-CLIP	21572407
MIRT522840	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT522839	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT522838	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT522837	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT522849	hsa-miR-3133	PAR-CLIP	23446348
MIRT522848	hsa-miR-8485	PAR-CLIP	23446348
MIRT522847	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT522846	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT522845	hsa-miR-603	PAR-CLIP	23446348
MIRT379771	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT522844	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT522843	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT522842	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT522841	hsa-miR-3941	PAR-CLIP	23446348
MIRT522840	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT522839	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT522838	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT522837	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT440376	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440376	hsa-miR-382-5p	HITS-CLIP	24374217

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence
GO:0001953	Process	Negative regulation of cell-matrix adhesion	IBA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0007399	Process	Nervous system development	IEA
GO:0030496	Component	Midbody	IDA
GO:0033629	Process	Negative regulation of cell adhesion mediated by integrin	IBA
GO:2000048	Process	Negative regulation of cell-cell adhesion mediated by cadherin	IBA
GO:2001223	Process	Negative regulation of neuron migration	IBA

MIM	HGNC	e!Ensembl
300524	29433	ENSG00000050030

Protein

UniProt ID

Q5QGS0

Protein name

Neurite extension and migration factor (XLMR protein related to neurite extension) (XPN)

Protein function

Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15735	DUF4683	284 → 690	Domain of unknown function (DUF4683)	Family

Tissue specificity

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:0000269|PubMed:15466006}.

Sequence

MDNQQDKAIVASANGENTLINGVKENDSEDQDVAMKSFAALEAAAPIQPTPVAQKETLMY
PRGLLPLPSKKPCMQSPPSPLGLIEAPEHAANSASVNAISLTSGIAKGLNTWSLPNECEK
APFAIMEPAGMSALNGDCLMQPSRTCLGCFMESKDAVDPEPGISLKVGDLNRDYETCAVS
DIGIQCINAGENMKYGEQLLSDQLLGFPLHKSRAGDRRETEKPDIDLEDPAQKSYYEALL
LDKCNTEEALLANSNQDWGYFETFISESKIELLDLCSKNELSVNLFSEEDVDNYMFDDDE
STLGSDVCSLKIRYESFQDNVRDKTTLLMQEDAQFNFFPSVFTTCPKRESKSGALKQSSD
FSQFKVPDVSIIWGEEDKNLDKKKGKEEGQEDKGVEKKDGKDNGEKPALNKPCSGTEVEQ
LKNPKQGHLANSLETSGSFSDDSSFIEISYDAMGEIKDCSRYMARDTNSGSSSSQQNYGL
RAKRKVRYSEDYLYDVDSLEGEKVNERKEWLPVGSKEEDDDEWCPKKRRKVTRKEPPVII
KYIIINRFKGEKNMLVKLGKVDASETTVNLSENQLNKYAKLAPLKGFWQKKKKQRNTNTD
SIKTPFSQKQSFEPGSFEVSFLPPARKRKSKLGNRHRIQRIPSIEISASSKQISLCNDQR
HASNHKEDGGLKGTLKSAPLGAPSCANGSHLNDITGPDSVKVKAQDTEFKGPERKVLNKI
KFKSEARLKSKKVKAAGQESKPIVQMSPLLENQSSKANLKNEVIPGTSNSSRLSEFHEAK
AAKSSTFLPTTCSSEMPLSSANVTTNIPVIPGGYLQTLLDASDLSNNTSISYFSHHSPEQ
NEGSLTQTEKSFVPLQPTQDCVLTSSSDSELQQSSHNFKMESSNYRNVWPNKATSGTQEF
MAEVSREIAPTQSSEFGASQVVSMENNLTPTTYNPICLNSGGSNCNKVLYDSMQDTQLPS
DDSYQLCHFNNGEICFPFQQGPVNMDDGRLFSFDSMAPLSVSSSNYCSLSLKSCEKDGDD
DITDDFLAHCSPKLVIQQSIDEIAPLKESTDLLDISNFTPDKFRHSSLSEMSPPDTPSLS
PQITRCESMKTLGTLKGFQEGVPGPLDSVEKIKWDCSTLSRQVQMEDGFTLNNHQFQFHM
FNDEDSVSLLQKNPCLSTFNDPSGQISTNNKVSKSRKKSSPSKSGAMNQSSSQKNTRKKS
LKGNNKGIEKPPGKNSRQVPKSTKKGKYMAAINGEKMQIGIGRGGSQTNTISSTGKTLAE
CIQHGGPMASMKMPSQKGLSGDWALGKESSPGWSDMSMGTNTNSLLDDDQREFQEPSYIL
SNIASGMADVQRFMMASIEPLWEPMEHHGDPNIFYSPESNSLKLKTLKILAGTPQESKKK
INSGSQGATKNHRSIKGVSKSNGKTAIGDPGRANMPGYNEDSRSTFFDKKYSNMSTLGNN
GPTHKKLYRHKSSSKALRDEKCKGKHMEREQVHKDESGTASFEKLRDSDYNLLKAETTFW
VLPVFEEETRIFQKDI

Sequence length

1516

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mental Retardation, X-Linked	x-linked intellectual disability, cantagrel type	rs886041701, rs1556016529, rs886041774, rs1556016224, rs886041971, rs1569335265, rs397518478, rs1057518728, rs1569336024, rs397518479, rs1057518730, rs1602211123, rs727503977, rs1060499652, rs1602210960 View all (11 more)	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Myoclonic-Astatic Epilepsy	myoclonic-astatic epilepsy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Amenorrhea	Associate	25747126
Atrioventricular Septal Defect	Associate	27396555
Autism Spectrum Disorder	Associate	33144681
Autistic Disorder	Associate	28846756
Developmental Disabilities	Associate	27568816
Down Syndrome	Associate	27396555
Drug Resistant Epilepsy	Associate	27358180
Epilepsies Myoclonic	Associate	27358180
Epilepsy	Associate	27358180, 27568816, 28846756, 33144681
Hypersensitivity Delayed	Associate	27568816
Intellectual Disability	Associate	15466006, 23871722, 27358180, 27568816, 28846756, 33144681
Language Disorders	Associate	27568816
Lennox Gastaut Syndrome	Associate	28846756
Peritonitis	Associate	27270314
Seizures	Associate	33144681
Stomach Neoplasms	Associate	27270314
Syndrome	Associate	28846756

NEXMIF (neurite extension and migration factor)