UNC80 - unc-80 homolog, NALCN channel complex subunit Gene

Homo sapiens

Also known as UNC-80; C2orf21

Gene ID: 285175 | Gene type: protein coding

About UNC80

Cytogenetic location: 2q34 Genomic coordinates (GRCh38): 2:209,771,832-209,999,296 (from NCBI)

This gene has 10 transcripts (splice variants), 192 orthologues and is associated with 3 phenotypes. Biased expression in brain (RPKM 5.6), adrenal (RPKM 2.1) and 3 other tissues.

Summary

The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two Other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]

UNC80 Products(3)

mRNA	Protein	Name
NM_001371986.1	NP_001358915.1	protein unc-80 homolog isoform 3
NM_032504.2	NP_115893.1	protein unc-80 homolog isoform 1
NM_182587.4	NP_872393.3	protein unc-80 homolog isoform 2

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	32494638	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

protein unc-80 homolog

unc-80 homolog, NALCN activator

Related Diseases

Diseases

Alias

Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2

IHPRF2

Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies, Type 2

Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies	Ihprf Syndrome
Infantile Hypotonia-Psychomotor Retardation-Characteristic Facies Syndrome

Encephalopathy

Brain Diseases	Encephalopathies
Toxic Encephalopathy	Toxic Brain Fever
Toxic Brain Inflammation	Toxic Brain Stem Inflammation
Toxic Cerebral Fever	Toxic Cerebrospinal Fever
Toxic Cerebrospinal Inflammation	Encephalopathy Nec
Encephalopathy Nos	Encephalopathy Disease
Encephalopathy Syndrome

Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay

CLIFAHDD	Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Clifahdd Syndrome	Doid:0081048
Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay

Hypotonia, Infantile, With Psychomotor Retardation

IHPMR

Severe Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome

Immunodeficiency 34

Atypical Mycobacteriosis, Familial, X-Linked 2	X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Cybb Deficiency
IMD34	Amcbx2
Immunodeficiency 34, Mycobacteriosis, X-Linked	X-Linked Msmd Due To Cybb Deficiency
Familial Atypical Mycobacteriosis X-Linked 2	Familial, X-Linked, Atypical Mycobacteriosis 2
Familial Disseminated Atypical Mycobacterial Infection X-Linked 2	Mendelian Susceptibility To Mycobacterial Disease X-Linked 2
X-Linked Immunodeficiency 34, Mycobacteriosis	Immunodeficiency, Type 34, Mycobacteriosis, X-Linked

Mitochondrial Dna Depletion Syndrome 13

MTDPS13	Fbxl4 Deficiency
Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome	Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies	Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies
Fbxl4-Related Early-Onset Mitochondrial Encephalopathy	Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type
Bxl4-Related Early-Onset Mitochondrial Encephalopathy	Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13
Fbxl4-Related Early Onset Mitochondrial Encephalopathy	Mitochondrial Dna Depletion Syndrome, Type 13

Hypotonia

Leukodystrophy, Hypomyelinating, 10

Hypomyelinating Leukodystrophy 10	HLD10
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Leukodystrophy, Hypomyelinating, Type 10

Autosomal Dominant Nonsyndromic Deafness 77

Dfna77

Spastic Paraplegia 15, Autosomal Recessive

SPG15	Kjellin Syndrome
Hereditary Spastic Paraplegia 15	Spastic Paraplegia And Retinal Degeneration
Autosomal Recessive Spastic Paraplegia Type 15	Hereditary Spastic Paraparesis Type 15
Spastic Paraplegia-Retinal Degeneration Syndrome	Autosomal Recessive Spastic Paraplegia 15

Valproate Embryopathy

Fetal Valproate Syndrome	Fetal Valproic Acid Syndrome
Fvs	Valproic Acid Embryopathy
Fetal Valproate Spectrum Disorder	Valproate Embryopathy, Susceptibility To
Foetal Valproate Syndrome	Foetal Valproic Acid Syndrome
Susceptibility To Valproate Embryopathy	Valproic Acid Antenatal Infection

Esotropia

Convergence In Manifest Squint	Crossed Eyes
Internal Strabismus	Convergent Concomitant Strabismus
Convergent Squint	Convergent Strabismus
Cross-Eye

Cardiomyopathy, Dilated, 1e

Left Ventricular Noncompaction 9	Left Ventricular Noncompaction 5
Dilated Cardiomyopathy 1e	Dilated Cardiomyopathy 1s
CMD1E	Cdcd2
Cardiomyopathy, Dilated, 1y	CMD1Y
Cardiomyopathy, Dilated, 1s	CMD1S
Dilated Cardiomyopathy 1y	Dilated Cardiomyopathy With Conduction Defect 2
Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia	Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia
Cardiomyopathy, Dilated, With Conduction Defect 2	Cardiomyopathy Dilated With Conduction Defect Type 2
Cardiomyopathy, Dilated 1e	Cardiomyopathy, Dilated 1s
Cardiomyopathy, Dilated 1y	Left Ventricular Non-Compaction 5
LVNC5	Left Ventricular Non-Compaction 9
LVNC9	Cardiomyopathy, Dilated, Type 1e
Cardiomyopathy, Dilated, Type 1s	Cardiomyopathy, Dilated, Type 1y

Mitochondrial Complex Iii Deficiency

Complex 3 Mitochondrial Respiratory Chain Deficiency	Isolated Coq-Cytochrome C Reductase Deficiency
Ubiquinone-Cytochrome C Oxidoreductase Deficiency

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy	Janz Syndrome
Jme	Myoclonic Epilepsy, Juvenile, Susceptibility To, 1
EJM	Myoclonic Epilepsy, Juvenile
Petit Mal, Impulsive	Myoclonic Epilepsy, Juvenile 1
Myoclonic Epilepsy, Juvenile, 1	Adolescent Myoclonic Epilepsy
Juvenile Myoclonus Epilepsy	Juvenile Myoclonic Epilepsy 1
EJM1	Petit Mal Impulsive
Susceptibility To Juvenile Myoclonic Epilepsy 1	Myoclonic Epilepsy Juvenile
Epilepsy, Myoclonic, Juvenile	Myoclonic Epilepsy Of Janz
Jme - [Juvenile Myoclonic Epilepsy]

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15475	UNC80 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	UNC80	VGNC	VGNC:99420
Rattus norvegicus	UNC80	RGD	RGD:1309976
Felis catus	UNC80	VGNC	VGNC:66834
Bos taurus	UNC80	VGNC	VGNC:36676
Canis familiaris	UNC80	VGNC	VGNC:48145
Mus musculus	UNC80	MGD	MGI:2652882

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