SCNM1 - sodium channel modifier 1 Gene

Homo sapiens

Also known as OFD19

Gene ID: 79005 | Gene type: protein coding

About SCNM1

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:151,166,144-151,170,296 (from NCBI)

This gene has 7 transcripts (splice variants) and 190 orthologues. Ubiquitous expression in spleen (RPKM 7.6), lymph node (RPKM 7.6) and 25 other tissues.

Summary

SCNM1 is a zinc finger protein and putative splicing factor. In mice, Scnm1 modifies phenotypic expression of Scn8a (MIM 600702) mutations (Buchner et al., 2003 [PubMed 12920299]).[supplied by OMIM, Oct 2009]

SCNM1 Products(2)

mRNA	Protein	Name
NM_001204856.2	NP_001191785.1	sodium channel modifier 1 isoform 2
NM_024041.4	NP_076946.1	sodium channel modifier 1 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	23382074	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	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

sodium channel modifier 1

Related Diseases

Diseases

Alias

Reflex Epilepsy

Epilepsy, Reflex	Epilepsy, Sensory-Induced
Epilepsy Reflex

Verbal Auditory Agnosia

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy	Severe Myoclonic Epilepsy In Infancy
Smei	Epileptic Encephalopathy, Early Infantile, 6
DRVT	Developmental And Epileptic Encephalopathy 6a
Dee6a	Eiee6
Developmental And Epileptic Encephalopathy, 6	Dee6
Developmental And Epileptic Encephalopathy 6	Early Infantile Epileptic Encephalopathy 6
Myoclonic Epilepsy, Severe, Of Infancy	Sme
Severe Myoclonus Epilepsy Of Infancy	Borderline Smei
Smeb	Smeb-M
Smeb-O	Smeb-Sw
Smei-Borderland	Smei-Borderland More Than One Feature
Smei-Borderland-Myoclonic Seizures	Smei-Borderland-Spike Wave
Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures	ICEGTC
Infantile Severe Myoclonic Epilepsy	Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

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-RS12551	SCNM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SCNM1	VGNC	VGNC:100133
Bos taurus	SCNM1	VGNC	VGNC:55678
Canis familiaris	SCNM1	VGNC	VGNC:49785
Mus musculus	SCNM1	MGD	MGI:1341284
Felis catus	SCNM1	VGNC	VGNC:64929

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