Seroatlas · Human Serome Atlas

NPAS2

Neuronal PAS domain-containing protein 2

Also known as: bHLHe9, MOP4, NPAS2_HUMAN, PASD4

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

Protein identityUniProt · HPA

UniProt accession: Q99743
Gene: NPAS2
Ensembl: ENSG00000170485
Chromosome: 2
Canonical length: 824 aa
Protein class: Metabolic proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm

OverviewNCBI Gene

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

824 residues, UniProt reviewed canonical sequence.

>Q99743|NPAS2
     1  MDEDEKDRAK RASRNKSEKK RRDQFNVLIK ELSSMLPGNT RKMDKTTVLE KVIGFLQKHN
    61  EVSAQTEICD IQQDWKPSFL SNEEFTQLML EALDGFIIAV TTDGSIIYVS DSITPLLGHL
   121  PSDVMDQNLL NFLPEQEHSE VYKILSSHML VTDSPSPEYL KSDSDLEFYC HLLRGSLNPK
   181  EFPTYEYIKF VGNFRSYNNV PSPSCNGFDN TLSRPCRVPL GKEVCFIATV RLATPQFLKE
   241  MCIVDEPLEE FTSRHSLEWK FLFLDHRAPP IIGYLPFEVL GTSGYDYYHI DDLELLARCH
   301  QHLMQFGKGK SCCYRFLTKG QQWIWLQTHY YITYHQWNSK PEFIVCTHSV VSYADVRVER
   361  RQELALEDPP SEALHSSALK DKGSSLEPRQ HFNTLDVGAS GLNTSHSPSA SSRSSHKSSH
   421  TAMSEPTSTP TKLMAEASTP ALPRSATLPQ ELPVPGLSQA ATMPAPLPSP SSCDLTQQLL
   481  PQTVLQSTPA PMAQFSAQFS MFQTIKDQLE QRTRILQANI RWQQEELHKI QEQLCLVQDS
   541  NVQMFLQQPA VSLSFSSTQR PEAQQQLQQR SAAVTQPQLG AGPQLPGQIS SAQVTSQHLL
   601  RESSVISTQG PKPMRSSQLM QSSGRSGSSL VSPFSSATAA LPPSLNLTTP ASTSQDASQC
   661  QPSPDFSHDR QLRLLLSQPI QPMMPGSCDA RQPSEVSRTG RQVKYAQSQT VFQNPDAHPA
   721  NSSSAPMPVL LMGQAVLHPS FPASQPSPLQ PAQARQQPPQ HYLQVQAPTS LHSEQQDSLL
   781  LSTYSQQPGT LGYPQPPPAQ PQPLRPPRRV SSLSESSGLQ QPPR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NPAS2 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.54
Highest tissue expression: 49 nTPM

Expression across tissuesHPA

Tissue

esophagus: 49 nTPM
pancreas: 38 nTPM
heart muscle: 27 nTPM
skin: 27 nTPM
kidney: 27 nTPM
urinary bladder: 26 nTPM

Single-cell type

esophageal apical cells: 781 nCPM
urothelial cells: 665 nCPM
ocular epithelial cells: 354 nCPM
renal collecting duct principal cells: 341 nCPM
salivary acinar cells: 284 nCPM
papillary tip epithelial cells: 278 nCPM

Immune cell

naive CD4 T-cell: 0.3 nTPM
naive CD8 T-cell: 0.2 nTPM
T-reg: 0.2 nTPM
memory CD4 T-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM

Brain region

cerebral cortex: 61 nTPM
basal ganglia: 60 nTPM
thalamus: 59 nTPM
amygdala: 58 nTPM
hippocampal formation: 47 nTPM
midbrain: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NPAS2.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 147 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Non-obstructive azoospermia

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): 0.13
gnomAD pLI: 1
gnomAD missense Z: 2.5
DepMap mean gene effect: -0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 NPAS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NPAS2 as an antibody target. Whether an autoantibody or antibody against NPAS2 could matter depends on whether native NPAS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NPAS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NPAS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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