Version 2.78

Term Description

The SMN2 copy number varies from 0 to 3 copies in the population, with about 10-15% of unaffected individuals having no SMN2 gene. The SMN2 copy number does not impact the carrier status but rather influences severity of disease in patients with spinal muscular atrophy (SMA), where the presence of more copies is associated with milder disease. PMID: 21673580
Source: Regenstrief LOINC

Part Description

LP426531-2   SMN2 gene copy number
The SMN2 gene (survival of motor neuron 2, centromeric) [HGNC Gene ID:11118] is located on chromosome 5q13.2. This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008] [NCBI Gene ID:6607] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
SMN2 gene copy number
Property
EntNum
Time
Pt
System
Bld/Tiss
Scale
Qn
Method
Molgen

Additional Names

Long Common Name
SMN2 gene copy number in Blood or Tissue by Molecular genetics method
Short Name
SMN2 copy num EntNum Bld/T
Display Name
SMN2 copy num Molgen (Bld/Tiss) [Entitic number]
Consumer Name Alpha Get Info
SMN2 copy number, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.70
Last Updated
Version 2.72
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)
92005-8 Spinal muscular atrophy newborn screening panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Número de copias del gen SMN2:Número entítico:Punto temporal:Sangre o tejido:Qn:Genética molecular
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Número de copia del gen SMN2:EntNum:Punto temporal:Bld / Tiss:Cuantitativo:Molgen
fr-FR French (France) SMN2 gène - Nombre de copie:Nombre/entité:Ponctuel:Sang/Tissu:Numérique:Biologie moléculaire
it-IT Italian (Italy) Gene SMN2, numero copia:EntNum:Pt:Sangue/Tess:Qn:Molgen
Synonyms: Gene SMN2 Genetica molecolare Numero copia di gene SMN2 Numero entitico Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) aantal kopieën van SMN2-gen:aantal/eenheid:moment:bloed of weefsel:kwantitatief:moleculair genetisch onderzoek
Synonyms: molgen SMN2 gen
zh-CN Chinese (China) SMN2 基因拷贝数:实体数量:时间点:全血/组织:定量型:分子遗传学类实验室方法
Synonyms: BCD541;SMN;SMNC;SMNT;着丝粒运动神经元生存基因;运动神经元生存 2, 着丝点;运动神经元生存 2, 着丝点性;运动神经元生存 2, 着丝粒;运动神经元生存 2, 着丝粒性;运动神经元生存基因 2 SMN2 基因拷贝（副本）数（数量、计数） 个数;数目 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 实体计数 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

Example Units

Unit Source
{#} Example UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=97654-8