Version 2.78

Descriptions

The CNBP (CCHC-type zinc finger, nucleic acid binding protein) gene [NCBI Gene ID:7555] is located on chromosome 3q21. This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Source: National Center for Biotechnology Information (NCBI) Gene

The CNBP (ZNF9) gene contains a complex repeat motif, (TG)n(TCTG)n(CCTG), in intron 1 that varies in length for each repeat. Expansion of the CCTG repeat portion causes myotonic dystrophy type 2 (DM2).[NCBI Books: NBK1466] Normal alleles have 11-26 CCTG repeats, intermediate (premutation) alleles have 27-74 repeats, and mutated alleles have greater than 75 to more than 11,000 repeats. PMID: 11486088 The tetranucleotide repeat is somatically and meiotically unstable. When the repeat expansion is passed on from affected parent to offspring, the mutated allele can either expansion or contract within the disease range. PMID: 12601109 Source: Regenstrief LOINC

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
CNBP gene
Part Display Name
CNBP gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-04-28
Construct for LOINC Short Name
CNBP

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35629-2
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35629-2

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) ZNF9 基因
Synonyms: CNBP;CNBP1;DM2;HGNC:2924;PDM;PROMM;RNF163;细胞性核酸结合蛋白 (CNBP) (锌指蛋白 9);细胞性核酸结合蛋白 (锌指蛋白 9);肌强直性营养不良 2 型;近端肌强直性肌病;近端肌强直性肌营养不良;锌指蛋白 273
et-EE Estonian (Estonia) ZNF9 geen
es-ES Spanish (Spain) Gen ZNF9
it-IT Italian (Italy) CNBP, gene
Synonyms: Gene CNBP
tr-TR Turkish (Turkey) ZNF9 geni
ru-RU Russian (Russian Federation) ZNF9 ген
nl-NL Dutch (Netherlands) ZNF9-gen
Synonyms: ZNF9 gen