LP71439-1
SH3BP2 gene
Active
Description
The SH3BP2 gene (SH3-domain binding protein 2) [HGNC Gene ID:10825] is located on chromosome 4p16.3. The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] [NCBI Gene ID:6452] Source: National Center for Biotechnology Information (NCBI) Gene
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
- SH3BP2 gene
- Part Display Name
- SH3BP2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- SH3BP2 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP71439-1 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP71439-1
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen SH3BP2 |
| it-IT | Italian (Italy) | SH3BP2, gene Synonyms: Gene SH3BP2 |
| et-EE | Estonian (Estonia) | SH3BP2 geen |
| tr-TR | Turkish (Turkey) | SH3BP2 geni |
| zh-CN | Chinese (China) | SH3BP2 基因 Synonyms: 3BP2; |
| ru-RU | Russian (Russian Federation) | SH3BP2 ген |
| nl-NL | Dutch (Netherlands) | SH3BP2-gen Synonyms: SH3BP2 gen |
| el-GR | Greek (Greece) | Γονίδιο SH3BP2 Synonyms: Γονίδιο SH3BP2 |
LOINC Copyright
Copyright © 2025 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://