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

Also Known as UNC-80; C2orf21

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 285175

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	References	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

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 Set	/	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
Others	UNC80	NCBI