Seroatlas · Human Serome Atlas

NEXN

Nexilin

Also known as: NELIN, nexilin, NEXN_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q0ZGT2
Gene: NEXN
Ensembl: ENSG00000162614
Chromosome: 1
Canonical length: 675 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Plasma membrane,Actin filaments

OverviewNCBI 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 described.[provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

675 residues, UniProt reviewed canonical sequence.

>Q0ZGT2|NEXN
     1  MNDISQKAEI LLSSSKPVPK TYVPKLGKGD VKDKFEAMQR AREERNQRRS RDEKQRRKEQ
    61  YIREREWNRR KQEIKEMLAS DDEEDVSSKV EKAYVPKLTG TVKGRFAEME KQRQEEQRKR
   121  TEEERKRRIE QDMLEKRKIQ RELAKRAEQI EDINNTGTES ASEEGDDSLL ITVVPVKSYK
   181  TSGKMKKNFE DLEKEREEKE RIKYEEDKRI RYEEQRPSLK EAKCLSLVMD DEIESEAKKE
   241  SLSPGKLKLT FEELERQRQE NRKKQAEEEA RKRLEEEKRA FEEARRQMVN EDEENQDTAK
   301  IFKGYRPGKL KLSFEEMERQ RREDEKRKAE EEARRRIEEE KKAFAEARRN MVVDDDSPEM
   361  YKTISQEFLT PGKLEINFEE LLKQKMEEEK RRTEEERKHK LEMEKQEFEQ LRQEMGEEEE
   421  ENETFGLSRE YEELIKLKRS GSIQAKNLKS KFEKIGQLSE KEIQKKIEEE RARRRAIDLE
   481  IKEREAENFH EEDDVDVRPA RKSEAPFTHK VNMKARFEQM AKAREEEEQR RIEEQKLLRM
   541  QFEQREIDAA LQKKREEEEE EEGSIMNGST AEDEEQTRSG APWFKKPLKN TSVVDSEPVR
   601  FTVKVTGEPK PEITWWFEGE ILQDGEDYQY IERGETYCLY LPETFPEDGG EYMCKAVNNK
   661  GSAASTCILT IESKN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NEXN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.54
Highest tissue expression: 634 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 634 nTPM
tongue: 513 nTPM
heart muscle: 379 nTPM
blood vessel: 154 nTPM
colon: 79 nTPM
smooth muscle: 66 nTPM

Single-cell type

myonuclei: 2,709 nCPM
thymic myoid cells: 1,332 nCPM
platelets: 1,327 nCPM
cardiomyocytes: 890 nCPM
hepatic stellate cells: 549 nCPM
vascular smooth muscle cells: 520 nCPM

Immune cell

total PBMC: 3.5 nTPM
classical monocyte: 1.7 nTPM
neutrophil: 1.4 nTPM
intermediate monocyte: 1 nTPM
myeloid DC: 0.9 nTPM
non-classical monocyte: 0.8 nTPM

Brain region

thalamus: 11 nTPM
midbrain: 7.7 nTPM
basal ganglia: 7 nTPM
choroid plexus: 5.8 nTPM
amygdala: 5.4 nTPM
hypothalamus: 4.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NEXN.

Disease | AllUniProt

Conditions NEXN is implicated in, by any mechanism.

Cardiomyopathy, dilated, 1CC (CMD1CC) MIM:613122
Cardiomyopathy, dilated, 2M (CMD2M) MIM:621261
Cardiomyopathy, familial hypertrophic, 20 (CMH20) MIM:613876

Disease | GeneticClinVar

29 pathogenic / likely-pathogenic of 857 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Dilated cardiomyopathy 1CC
Hypertrophic cardiomyopathy 20
Cardiomyopathy, dilated, 2M
Heart failure

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.78
gnomAD pLI: 0
gnomAD missense Z: -0.21
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NEXN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

CPVL

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NEXN as an antibody target. Whether an autoantibody or antibody against NEXN could matter depends on whether native NEXN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NEXN is annotated at the cell surface, where native NEXN is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label NEXN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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