Difference between revisions of "HGNC"

From Clinfowiki
Jump to: navigation, search
Line 31: Line 31:
 
| NEUROD1 || neuronal differentiation 1 || NEUROD || BETA2, BHF-1, NeuroD, bHLHa3, MODY6 || 2q32
 
| NEUROD1 || neuronal differentiation 1 || NEUROD || BETA2, BHF-1, NeuroD, bHLHa3, MODY6 || 2q32
 
|-
 
|-
| ABHD11 || abhydrolase || WBSCR21 || PP1226 || 7q11.23
+
| TAL1 || T-cell acute lymphocytic leukemia 1 || TCL5 || SCL, bHLHa17 || 1p32
 
|-
 
|-
| ABHD11 || abhydrolase || WBSCR21 || PP1226 || 7q11.23
+
| FUT2 || fucosyltransferase 2 (secretor status included) || SE || sej, Se2, SEC2 || 19q13.33
 
|-
 
|-
| ABHD11 || abhydrolase || WBSCR21 || PP1226 || 7q11.23
+
| ZACN || zinc activated ligand-gated ion channel || LGICZ1 || LGICZ, L2, ZAC, ZAC1 || 17q25.3
 
|}
 
|}
  

Revision as of 22:17, 29 April 2014

The HUGO Genome Nomenclature Committee (HGNC) is the worldwide authority that assigns standardized nomenclature to human genes. [1] The HGNC is responsible for approving unique symbols (short-form abbreviation) and names for human loci, including protein-coding genes, RNA genes and pseudogenes, allowing unambiguous scientific communication. [1] The HGNC operates under the Human Genome Organization (HUGO) to fulfill its responsibilities. [2]

Once symbols become approved, they are stored in the HGNC database. Symbols must be unique so they can be talked about individually, and this also facilitates electronic data retrieval from publications and databases. [3] Currently, almost 33,000 symbols have been approved for use in information systems. Most of these symbols are for protein coding genes, but other symbols include pseudogenes, non-coding RNAs, phenotypes and genomic features. [3]

History

Summary of Guidelines

A summary of the naming guidelines is presented here[4]:

1. Each approved gene symbol must be unique.

2. Symbols are short-form representations (or abbreviations) of the descriptive gene name.

3. Symbols should only contain Latin letters and Arabic numerals.

4. Symbols should not contain punctuation.

5. Symbols should not contain "G" for gene.

6. Symbols do not contain any reference to species, for example "H/h" for human.

Examples

Approved Symbol Approved Name Previous Symbols Synonyms Chromosome
ABHD11 abhydrolase domain containing 11 WBSCR21 PP1226 7q11.23
NEUROD1 neuronal differentiation 1 NEUROD BETA2, BHF-1, NeuroD, bHLHa3, MODY6 2q32
TAL1 T-cell acute lymphocytic leukemia 1 TCL5 SCL, bHLHa17 1p32
FUT2 fucosyltransferase 2 (secretor status included) SE sej, Se2, SEC2 19q13.33
ZACN zinc activated ligand-gated ion channel LGICZ1 LGICZ, L2, ZAC, ZAC1 17q25.3

The full HGNC Gene Family dataset can be viewed and downloaded from their website [5]

See Also

References

1. About the HGNC. http://www.genenames.org/about/overview (accessed 2014 Apr 26).

2. Carter JH. 2008. Electronic Health Records: A Guide for Clinicians and Administrators, Second Edition. Philadelphia PA: ACP Press-American College of Physicians.


Submitted by Ben Lawrence