1. Gene
  2. NNAT - neuronatin Gene

NNAT - neuronatin Gene

中文名称:神经肽

种属: Homo sapiens

同用名: Peg5

基因 ID: 4826 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种蛋白脂质,可能参与大脑发育过程中离子通道的调节。编码的蛋白质也可能在形成和维持神经系统结构中发挥作用。该基因位于另一个基因 (膀胱癌相关蛋白) 的内含子中,但位于相反的链上。该基因被印记并且仅从父系等位基因表达。[RefSeq 提供,2016 年 4 月]

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 基因产物(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
蛋白主名 其他名称

neuronatin

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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