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.	91624
Gene name Gene Name - the full gene name approved by the HGNC.	Nexilin F-actin binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NEXN
Synonyms (NCBI Gene) Gene synonyms aliases	CDM2M, CMH20, NELIN
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p31.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been desc

Show/Hide all(14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853197	A>G	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs137853198	C>A	Pathogenic	Missense variant, coding sequence variant
rs200753280	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs201019553	T>G	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs372532824	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs387907079	C>G	Pathogenic	Coding sequence variant, missense variant
rs397517848	GGAGGA>-,GGA,GGAGGAGGA	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Inframe insertion, coding sequence variant, inframe deletion
rs397517853	GAG>-	Likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, inframe deletion
rs727505353	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs771262904	G>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs794729086	C>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs794729088	ACAA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs794729092	AA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1222794437	TACTT>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(48)

miRTarBase ID	miRNA	Experiments
MIRT1181370	hsa-miR-1244	CLIP-seq
MIRT1181371	hsa-miR-1253	CLIP-seq
MIRT1181372	hsa-miR-3163	CLIP-seq
MIRT1181373	hsa-miR-3180-5p	CLIP-seq
MIRT1181374	hsa-miR-3185	CLIP-seq
MIRT1181375	hsa-miR-325	CLIP-seq
MIRT1181376	hsa-miR-3609	CLIP-seq
MIRT1181377	hsa-miR-3647-3p	CLIP-seq
MIRT1181378	hsa-miR-4270	CLIP-seq
MIRT1181379	hsa-miR-4282	CLIP-seq
MIRT1181380	hsa-miR-4300	CLIP-seq
MIRT1181381	hsa-miR-4311	CLIP-seq
MIRT1181382	hsa-miR-4441	CLIP-seq
MIRT1181383	hsa-miR-4633-3p	CLIP-seq
MIRT1181384	hsa-miR-4685-5p	CLIP-seq
MIRT1181385	hsa-miR-4728-5p	CLIP-seq
MIRT1181386	hsa-miR-511	CLIP-seq
MIRT1181387	hsa-miR-520a-5p	CLIP-seq
MIRT1181388	hsa-miR-525-5p	CLIP-seq
MIRT1181389	hsa-miR-548ah	CLIP-seq
MIRT1181390	hsa-miR-548t	CLIP-seq
MIRT1181391	hsa-miR-920	CLIP-seq
MIRT1181392	hsa-miR-939	CLIP-seq
MIRT2052506	hsa-miR-1238	CLIP-seq
MIRT2052507	hsa-miR-3127-3p	CLIP-seq
MIRT2052508	hsa-miR-4766-5p	CLIP-seq
MIRT2281871	hsa-miR-141	CLIP-seq
MIRT2281872	hsa-miR-200a	CLIP-seq
MIRT2281871	hsa-miR-141	CLIP-seq
MIRT2281872	hsa-miR-200a	CLIP-seq
MIRT2431578	hsa-miR-3651	CLIP-seq
MIRT2431579	hsa-miR-4775	CLIP-seq
MIRT2431580	hsa-miR-590-3p	CLIP-seq
MIRT2431581	hsa-miR-889	CLIP-seq
MIRT2579940	hsa-miR-217	CLIP-seq
MIRT2579941	hsa-miR-3148	CLIP-seq
MIRT2579942	hsa-miR-3978	CLIP-seq
MIRT2579943	hsa-miR-4418	CLIP-seq
MIRT2579944	hsa-miR-4502	CLIP-seq
MIRT2579945	hsa-miR-509-3-5p	CLIP-seq
MIRT2579946	hsa-miR-509-5p	CLIP-seq
MIRT2579940	hsa-miR-217	CLIP-seq
MIRT2579941	hsa-miR-3148	CLIP-seq
MIRT2579942	hsa-miR-3978	CLIP-seq
MIRT2579943	hsa-miR-4418	CLIP-seq
MIRT2579944	hsa-miR-4502	CLIP-seq
MIRT2579945	hsa-miR-509-3-5p	CLIP-seq
MIRT2579946	hsa-miR-509-5p	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005912	Component	Adherens junction	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IBA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007411	Process	Axon guidance	IBA
GO:0008307	Function	Structural constituent of muscle	IMP	19881492
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0030334	Process	Regulation of cell migration	IDA	15823560
GO:0030424	Component	Axon	IBA
GO:0051015	Function	Actin filament binding	IDA	15823560
GO:0051493	Process	Regulation of cytoskeleton organization	IEP	15823560
GO:0070161	Component	Anchoring junction	IEA
GO:0070593	Process	Dendrite self-avoidance	IBA
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA

MIM	HGNC	e!Ensembl
613121	29557	ENSG00000162614

Protein

UniProt ID

Q0ZGT2

Protein name

Nexilin (F-actin-binding protein) (Nelin)

Protein function

Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity. {ECO:0000269|PubMed:12053183, ECO:0000269|PubMed:15823560, ECO:0000269|PubMed:1988

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07679	I-set	582 → 671	Immunoglobulin I-set domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in heart and skeletal muscle, and at lower levels in placenta, lung, liver and pancreas. Also expressed in HeLaS3 and MOLT-4 cell lines. {ECO:0000269|PubMed:12053183, ECO:0000269|PubMed:15823560, ECO:0000269|PubMed

Sequence

MNDISQKAEILLSSSKPVPKTYVPKLGKGDVKDKFEAMQRAREERNQRRSRDEKQRRKEQ
YIREREWNRRKQEIKEMLASDDEEDVSSKVEKAYVPKLTGTVKGRFAEMEKQRQEEQRKR
TEEERKRRIEQDMLEKRKIQRELAKRAEQIEDINNTGTESASEEGDDSLLITVVPVKSYK
TSGKMKKNFEDLEKEREEKERIKYEEDKRIRYEEQRPSLKEAKCLSLVMDDEIESEAKKE
SLSPGKLKLTFEELERQRQENRKKQAEEEARKRLEEEKRAFEEARRQMVNEDEENQDTAK
IFKGYRPGKLKLSFEEMERQRREDEKRKAEEEARRRIEEEKKAFAEARRNMVVDDDSPEM
YKTISQEFLTPGKLEINFEELLKQKMEEEKRRTEEERKHKLEMEKQEFEQLRQEMGEEEE
ENETFGLSREYEELIKLKRSGSIQAKNLKSKFEKIGQLSEKEIQKKIEEERARRRAIDLE
IKEREAENFHEEDDVDVRPARKSEAPFTHKVNMKARFEQMAKAREEEEQRRIEEQKLLRM
QFEQREIDAALQKKREEEEEEEGSIMNGSTAEDEEQTRSGAPWFKKPLKNTSVVDSEPVR
FTVKVTGEPKPEITWWFEGEILQDGEDYQYIERGETYCLYLPETFPEDGGEYMCKAVNNK
GSAASTCILTIESKN

Sequence length

675

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cardiomyopathy	Dilated cardiomyopathy 1CC	rs771262904	N/A
Dilated Cardiomyopathy	Dilated cardiomyopathy 1CC	rs771262904	N/A
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 20	rs387907079	N/A

Show/Hide Unknown Diseases (3)

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.
Arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular dysplasia 9	N/A	N/A	ClinVar
Left Ventricular Hypertrophy	left ventricular hypertrophy	N/A	N/A	ClinVar
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Atherosclerosis	Associate	26458985, 39801217
Cardiomegaly	Associate	35166435
Cardiomyopathies	Associate	38059363
Cardiomyopathy Dilated	Associate	31983221, 32041989, 35166435, 36129056, 38059363
Cardiomyopathy Hypertrophic	Associate	20970104, 33947203, 38059363
Cerebrovascular Disorders	Associate	26458985
Coronary Restenosis	Associate	26458985
Death Sudden Cardiac	Associate	38059363
Endocardial Fibroelastosis	Associate	35166435
Fetal Diseases	Associate	35166435
Hypertension	Associate	26458985
Papillary Thyroid Microcarcinoma	Associate	34856364
Paroxysmal ventricular fibrillation	Associate	38059363
Sudden Infant Death	Associate	38059363
Varicose Ulcer	Associate	26458985
Vascular Remodeling	Stimulate	26458985

NEXN (nexilin F-actin binding protein)