SCNM1 - sodium channel modifier 1 Gene

Also Known as OFD19

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 79005

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 参考文献 由来
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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS12551 SCNM1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others SCNM1 NCBI