1. Gene
  2. NPAS3 - neuronal PAS domain protein 3 Gene

NPAS3 - neuronal PAS domain protein 3 Gene

Homo sapiens

Also known as MOP6; PASD6; bHLHe12

Gene ID: 64067 | Gene type: protein coding

About NPAS3

Cytogenetic location: 14q13.1 Genomic coordinates (GRCh38): 14:32,934,785-33,804,173 (from NCBI)

This gene has 16 transcripts (splice variants), 208 orthologues and 7 paralogues. Biased expression in brain (RPKM 3.9), endometrium (RPKM 1.3) and 4 other tissues.

Summary

This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and cognitive disability. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

NPAS3 Products(6)

mRNA Protein Name
NM_001164749.2 NP_001158221.1 neuronal PAS domain-containing protein 3 isoform 1
NM_001165893.2 NP_001159365.1 neuronal PAS domain-containing protein 3 isoform 4
NM_001394988.1 NP_001381917.1 neuronal PAS domain-containing protein 3 isoform 5
NM_001394989.1 NP_001381918.1 neuronal PAS domain-containing protein 3 isoform 6
NM_022123.3 NP_071406.1 neuronal PAS domain-containing protein 3 isoform 2
NM_173159.3 NP_775182.1 neuronal PAS domain-containing protein 3 isoform 3

NPAS3 Protein Structure

PAS

PAS: PAS fold (152 - 212)

PAS_3

PAS_3: PAS fold (343 - 429)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 933 a.a.
Protein Preferred Names Protein Names

neuronal PAS domain-containing protein 3

PAS domain-containing protein 6

Related Diseases

Diseases Alias
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Schizophrenia 15

SCZD15

Schizophrenia 15 With Or Without An Affective Disorder

Schizophrenia Susceptibility Locus, Chromosome 22q13-Related

Schizophrenia Susceptibility Locus Chromosome 22q13-Related

Schizophrenia, Type 15

Schizophrenia 18

SCZD18

Schizophrenia 18 With Or Without An Affective Disorder

Schizophrenia Susceptibility 18

Chromosome 7q36.3 Duplication Syndrome, 362-Kb

Schizophrenia, Type 18

Chromosome 14q11-Q22 Deletion Syndrome

14q11.2 Microdeletion Syndrome

Zahir-Friedman Syndrome

Del(14)(Q11.2)

Monosomy 14q11.2

Holoprosencephaly 8

HPE8

Holoprosencephaly-8

Schizophrenia 1

SCZD1

Schizophrenia Susceptibility Locus, Chromosome 5-Related

Schizophrenia 1 With Or Without An Affective Disorder

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Sotos Syndrome

Cerebral Gigantism

SOTOS

Chromosome 5q35 Deletion Syndrome

Sotos Syndrome 1, Formerly

Sotos1, Formerly

Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

Sotos Sequence

Sotos' Syndrome

Sotos1

Sotos Syndrome 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta NPAS3 VGNC VGNC:75213
Mus musculus NPAS3 MGD MGI:1351610
Bos taurus NPAS3 VGNC VGNC:59355
Felis catus NPAS3 VGNC VGNC:104572
Rattus norvegicus NPAS3 RGD RGD:1307181
Canis familiaris NPAS3 VGNC VGNC:56062