EFHC2
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EF-hand domain (C-terminal) containing 2 is a protein that in humans is encoded by the EFHC2 gene.[5][6]
Gene
EFHC2 is located on the negative strand (
X inactivation.[7] EFHC2 spans 195,796 base pairs and is neighbored by NDP, the gene encoding for Norrie disease protein. Preliminary evidence based on genome wide association studies have linked a SNP in the intron between exons 13 and 14 of EFHC2 with harm avoidance.[8]
The
mRNA transcript encoding the EFHC2 protein is 3,269 base pairs. The first ninety base pairs compose the five prime untranslated region and the last 1913 base pairs compose the three prime untranslated region
.
Protein
The EFHC2 gene encodes a 749-amino acid protein which contains three DM10 domains (
EF-hand motifs.[5]
The isoelectric point of EFHC2 is estimated to be 7.13 in humans.[9] Relative to other proteins expressed in humans, EFHC2 has fewer alanine residues and a greater number of tyrosine residues and is predicted to reside in the cytoplasm.[10][11]
Tissue distribution
EFHC2 is widely expressed in the central nervous system as well as peripheral tissues.[12]
Clinical significance
A related protein, EFHC1 is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy[6][13] and that this gene may be associated with fear recognition in individuals with Turner syndrome.[5]
A
single nucleotide polymorphism in EFHC2 correlates to a reduced ability of Turner syndrome patients to recognize fear in facial expressions;[14] however, these findings remain controversial.[15]
Conservation in other species
| Species | Common Name | Protein Accession Number | Sequence Length | Sequence Identity (%) | Sequence Similarity (%) | mRNA Accession Number | Years Since Divergence (millions) |
|---|---|---|---|---|---|---|---|
| Pan troglodytes | chimpanzee | XP_003317486.1 | 749 | 99 | 100 | XM_003317438.1 | 6.4 |
| Rattus norvegicus | Rat | NP_001100422.1 | 750 | 79 | 88 | NM_001106952.1 | 94.4 |
| Ailuropoda | Giant Panda | EFB16666.1 | 732 | 79 | 89 | - | 92.4 |
| Canis lupus familiaris | Domesticated Dog | XP_538007.2 | 779 | 79 | 89 | XM_538007.2 | 92.4 |
| Bos taurus | Cow | XP_002700247.1 | 733 | 77 | 89 | XM_002700201.1 | 94.4 |
| Mus musculus | Mouse | NP_083192.2 | 750 | 76 | 87 | NM_028916.4 | 94.4 |
| Monodelphis domestica | Opossum | XP_001377972.1 | 755 | 67 | 82 | XM_001377935.1 | 163.9 |
| Gallus gallus | Chicken | NP_001032918.1 | 764 | 65 | 81 | NM_001037829.1 | 301.7 |
| Xenopus (Silurana) tropicalis | Frog | NP_001136133.1 | 741 | 63 | 79 | NM_001142661.1 | 371.2 |
| Danio rerio | Zebrafish | NP_001032472.1 | 762 | 62 | 76 | NM_001037395.1 | 400.1 |
| Ciona intestinalis | Sea Squirt | NP_001071886.1 | 741 | 62 | 80 | NM_001078418.1 | 722.5 |
| Saccoglossus kowalevskii | Acorn Worm | XP_002735862.1 | 747 | 61 | 77 | XM_002735816.1 | 891.8 |
| Nematostella vectensis | Sea Anemone | XP_001624761.1 | 736 | 60 | 77 | XM_001624711.1 | 742.9 |
| Strongylocentrotus purpuratus | Sea Urchin | XP_798540.1 | 744 | 59 | 72 | XM_793447.2 | 792.4 |
| Schistosoma mansoni | Trematode | XP_002579977.1 | 767 | 56 | 73 | XM_002579931.1 | 734.8 |
| Amphimedon queenslandic | Sponge | XP_003389005.1 | 720 | 52 | 70 | XM_003388957.1 | 782.7 |
| Anopheles gambiae | Mosquito | XP_558349.4 | 762 | 44 | 61 | XM_558349.4 | 782.7 |
| Camponotus floridanus | Ant | EFN72623.1 | 762 | 41 | 62 | - | 782.7 |
| Nasonia vitripennis | Jewel Wasp | XP_001603780.2 | 751 | 39 | 57 | XM_001603730.2 | 782.7 |
| Drosophila melanogaster | Fruit Fly | NP_611459 | 765 | 37 | 54 | NM_137615.2 | 661.2 |
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000183690 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025038 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c "Entrez Gene: EF-hand domain (C-terminal) containing 2". Retrieved 2012-05-07.
- ^ S2CID 25572315.
- PMID 21763416.
- S2CID 39604977.
- PMID 10027275.
- PMID 1549558.
- PMID 9322029.
- PMID 17164267.
- S2CID 32916803.
- S2CID 36917690.
- S2CID 36643937.