NNAT - neuronatin Gene

Homo sapiens

Also known as Peg5

Gene ID: 4826 | Gene type: protein coding

About NNAT

Cytogenetic location: 20q11.23 Genomic coordinates (GRCh38): 20:37,521,250-37,523,690 (from NCBI)

This gene has 5 transcripts (splice variants) and 70 orthologues. Biased expression in placenta (RPKM 54.6), brain (RPKM 50.1) and 3 other tissues.

Summary

The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder Cancer associated protein, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. [provided by RefSeq, Apr 2016]

NNAT Products(3)

mRNA	Protein	Name
NM_001322802.2	NP_001309731.1	neuronatin isoform gamma
NM_005386.4	NP_005377.1	neuronatin isoform alpha
NM_181689.3	NP_859017.1	neuronatin isoform beta

Protein Preferred Names

Protein Names

neuronatin

Related Diseases

Diseases

Alias

Alopecia-Mental Retardation Syndrome 1

APMR1	Alopecia-Intellectual Disability Syndrome 1
Amr Syndrome	Alopecia-Intellectual Disability Syndrome
Amr Syndrome 1	Alopecia With Severe Intellectual Deficit
Apmr	Alopecia Intellectual Disbility Syndrome 1
Perniola-Krajewska-Carnevale Syndrome	Alopecia - Intellectual Disability Syndrome
Alopecia With Mental Retardation Syndrome 1	Perniola Krajewska Carnevale Syndrome

Myoclonic Epilepsy Of Lafora

Lafora Disease	Epilepsy, Progressive Myoclonic 2b
EPM2	Melf
Epilepsy, Progressive Myoclonic 2a	Epm2a
Lafora'S Disease	Lafora Body Disease
Lbd	Epilepsy, Progressive Myoclonic, 2a
Lafora Progressive Myoclonic Epilepsy	Epilepsy Progressive Myoclonic 2
Lafora Body Disorder	Pme Type 2
Progressive Myoclonic Epilepsy Type 2	Progressive Myoclonus Epilepsy Type 2
Epilepsy, Progressive Myoclonic 2	Epm2b
Ld	Progressive Myoclonic Epilepsy 2
Progressive Myoclonic Epilepsy 2a	Progressive Myoclonic Epilepsy 2b
Progressive Myoclonic Epilepsy Lafora Type	Epilepsy, Myoclonic, Of Lafora

Distal Muscular Dystrophy With Anterior Tibial Onset

Dmat

Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal	Tndm
Chromosome 6-Associated Transient Diabetes Mellitus	Dmtn
Diabetes Mellitus, 6q24-Related Transient Neonatal	Tndm1
Neonatal Diabetes Mellitus, Transient	Tndm -[Transient Neonatal Diabetes Mellitus]

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Hemoglobin H Disease

HBH	Hemoglobin H Disease, Nondeletional
Hemoglobin H Disease, Deletional	Alpha-Thalassemia Intermedia
Haemoglobin H Disease	Alpha-Thalassemia, Hemoglobin H Type
Hemoglobin H Disease, Deletional And Nondeletional	Alpha Thalassemia, Haemoglobin H Type
Alpha Thalassemia, Hemoglobin H Type	Haemoglobin H Disease, Deletional
Hbh Disease	Alpha-Thalassemia Hemoglobin H Type
Hemoglobin H Disease Deletional	Hemoglobin H Disease Non-Deletional
Alpha-Thalassemia	Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia
Alpha Thalassaemia Intermedia

Silver-Russell Syndrome 1

Silver-Russell Syndrome	Russell-Silver Syndrome
Silver-Russell Dwarfism	Rss
SRS1	Srs
Silver Russell Dwarfism	Russell Silver Syndrome
Silver Russell Syndrome

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Medulloblastoma Predisposition Syndrome	Medulloblastoma, Somatic
Brain Medulloblastoma	Cns Pnet
Infratentorial Primitive Neuroectodermal Tumor	Neuroectodermal Tumors, Primitive
Medulloblastomas	Desmoplastic Medulloblastoma
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome	BWS
Exomphalos-Macroglossia-Gigantism Syndrome	Emg Syndrome
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation	Emg Abnormality
Wbs	Exomphalos Macroglossia Gigantism Syndrome
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation	Macroglossia Exomphalos Gigantism

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09394	NNAT Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NNAT	VGNC	VGNC:81132
Mus musculus	NNAT	MGD	MGI:104716
Bos taurus	NNAT	VGNC	VGNC:32142
Canis familiaris	NNAT	VGNC	VGNC:43868
Rattus norvegicus	NNAT	RGD	RGD:620155
Others	NNAT	NCBI