Ef-hand calcium binding domain 2

Last updated
EFCAB2
Identifiers
Aliases EFCAB2 , CFAP200, DRC8, EF-hand calcium binding domain 2
External IDs MGI: 1915476 HomoloGene: 12248 GeneCards: EFCAB2
Gene location (Human)
Ideogram human chromosome 1.svg
Chr. Chromosome 1 (human) [1]
Human chromosome 1 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 1q44Start244,969,705 bp [1]
End245,127,164 bp [1]
Orthologs
SpeciesHumanMouse
Entrez

84288

68226

Ensembl

ENSG00000203666

ENSMUSG00000026495

UniProt

Q5VUJ9

Q9CQ46

RefSeq (mRNA)

NM_001143943
NM_001290327
NM_032328

NM_026626

RefSeq (protein)

NP_001137415
NP_001277256
NP_115704

NP_080902

Location (UCSC) Chr 1: 244.97 – 245.13 Mb Chr 1: 178.41 – 178.48 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

EF-hand calcium binding domain 2 is a protein that in humans is encoded by the EFCAB2 gene. [5]

Protein biological molecule consisting of chains of amino acid residues

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific three-dimensional structure that determines its activity.

Gene basic physical and functional unit of heredity

In biology, a gene is a sequence of nucleotides in DNA or RNA that codes for a molecule that has a function. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic trait. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes as well as gene–environment interactions. Some genetic traits are instantly visible, such as eye color or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that constitute life.

Contents

Function

The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed.

Related Research Articles

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000203666 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026495 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "Entrez Gene: EF-hand calcium binding domain 2" . Retrieved 2017-06-01.

Further reading


This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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