Gephebase

Gephebase Search Results

This Summary Table shows only the major fields for each entry. If you are interested in other fields (gene synonyms, GO terms, molecular details of the mutation, comments, etc.), please export the .csv file, which contains the complete data for each entry. Please click on a GepheID if you want to see all information regarding a particular entry.

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Your research retrieved 11 results.

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Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference	Gephe ID	UniProtKB	Trait Category	Mutation Details	Taxon A	Taxon B	Edit Gene-GePhe	Taxon B	Status
BCO2 = beta-carotene oxygenase 2	Carotenoid content (yellow serum)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Berry SD; Davis SR; Beattie EM ; et al. (2009) Mutation in bovine beta-carotene oxygenase 2 affects milk color. 1 Additional References Tian R; Pitchford WS; Morris CA (2010) Genetic variation in the beta, beta-carotene-9', 10'-dioxygenase gene and association with fat colou[...]	GP00000138	BCO2 Q9BYV7	Physiology	c.306G>A ; p.W102* N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	BCO2 = beta-carotene oxygenase 2	Bos taurus cattle - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Carotenoid content (skin ; shanks)	Cis-regulatory, Unknown	Gallus sonneratii gray junglefowl - (species) D Gallus gallus chicken - (species) D	Interspecific	Linkage Mapping	Eriksson J; Larson G; Gunnarsson U ; et al. (2008) Identification of the yellow skin gene reveals a hybrid origin of the domestic chicken. 1 Additional References Fallahshahroudi A; Sorato E; Altimiras J (2019) The Domestic BCO2 Allele Buffers Low-Carotenoid Diets in Chickens: Possible Fitness Increase Through[...]	GP00000139	BCO2 Q9BYV7	Morphology; Physiology	Not identified	Gallus gallus chicken - (species)	Gallus sonneratii gray junglefowl - (species) D Gallus gallus chicken - (species) D	BCO2 = beta-carotene oxygenase 2	Gallus sonneratii gray junglefowl - (species) Gallus gallus chicken - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Carotenoid content (yellow fat)	Coding, SNP N	Ovis aries sheep - (species) D	Domesticated	Candidate Gene	Våge DI; Boman IA (2010) A nonsense mutation in the beta-carotene oxygenase 2 (BCO2) gene is tightly associated with accumula[...] 1 Additional References Niu Y; Jin M; Li Y (2017) Biallelic β-carotene oxygenase 2 knockout results in yellow fat in sheep via CRISPR/Cas9.	GP00000140	BCO2 Q9BYV7	Physiology	g.21947481C>T ; c.196C>T ; p.Q66* N	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	BCO2 = beta-carotene oxygenase 2	Ovis aries sheep - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Coloration (coat)	Cis-regulatory, Unknown	Vermivora cyanoptera blue-winged warbler - (species)	Interspecific	Association Mapping	Toews DP; Taylor SA; Vallender R ; et al. (2016) Plumage Genes and Little Else Distinguish the Genomes of Hybridizing Warblers.	GP00001332	BCO2 Q9BYV7	Morphology	unknown - the divergent region falls in the 5prime region that is directly upstream of the associated coding region	Vermivora chrysoptera Golden-winged warbler - (species)	Vermivora cyanoptera blue-winged warbler - (species)	BCO2 = beta-carotene oxygenase 2	Vermivora cyanoptera blue-winged warbler - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Carotenoid content (bill, legs)	Coding, SNP N	Serinus canaria common canary - (species) D	Domesticated	Association Mapping	Gazda MA; Toomey MB; Araújo PM ; et al. (2020) GENETIC BASIS OF DE NOVO APPEARANCE OF CAROTENOID ORNAMENTATION IN BARE-PARTS OF CANARIES.	GP00002039	BCO2 Q9BYV7	Morphology	point mutation at nucleotide position 837,806 that is predicted to be a nonsynonymous mutation in the exon 9 of the BCO2 gene. This variant results in the substitution of a histidine for an arginine at residue 413 of the protein (R413H) . In silico analysis suggests that the R413H could cause structural distortion of the protein and lead to a possible loss of activity. In vitro assays with the urucum BCO2 variant show that the enzyme activity is lost. N	Serinus canaria common canary - (species)	Serinus canaria common canary - (species) D	BCO2 = beta-carotene oxygenase 2	Serinus canaria common canary - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Coloration (ventral scales)	Cis-regulatory, Unknown	Podarcis muralis Common wall lizard - (species)	Intraspecific	Association Mapping	Andrade P; Pinho C; Pérez I de Lanuza G ; et al. (2019) Regulatory changes in pterin and carotenoid genes underlie balanced color polymorphisms in the wall [...]	GP00002120	Bco2 Q99NF1	Morphology		Podarcis muralis Common wall lizard - (species)	Podarcis muralis Common wall lizard - (species)	BCO2 = beta-carotene oxygenase 2	Podarcis muralis Common wall lizard - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Carotenoid content (sexual dichromatism, male-specific)	Unknown, Unknown	Serinus canaria common canary - (species)	Intergeneric or Higher	Linkage Mapping	Gazda MA; Araújo PM; Lopes RJ ; et al. (2020) A genetic mechanism for sexual dichromatism in birds.	GP00002139	BCO2 Q9BYV7	Morphology	Gene expression study suggests a cis-regulatory difference ; and coding mutations are unlikely to be causal	Spinus cucullatus red siskin - (species)	Serinus canaria common canary - (species)	BCO2 = beta-carotene oxygenase 2	Serinus canaria common canary - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Carotenoid content (yellow fat)	Coding, Deletion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Strychalski J; Brym P; Czarnik U ; et al. (2015) A novel AAT-deletion mutation in the coding sequence of the BCO2 gene in yellow-fat rabbits.	GP00002152	BCO2 Q9BYV7	Physiology	AAT-deletion mutation at Asp codon 248 of the BCO2 gene located at the beginning of exon 6 which results in the removal of an Asp N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	BCO2 = beta-carotene oxygenase 2	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Coloration (beak)	Cis-regulatory, Unknown	Geospiza scandens (species) D Geospiza fortis medium ground-finch - (species) D Geospiza conirostris (species) D Geospiza magnirostris (species) D Geospiza fuliginosa (species) D Camarhynchus parvulus (species) D Camarhynchus pauper (species) D Camarhynchus pallidus woodpecker finch - (species) D Geospiza difficilis (species) D	Intraspecific	Association Mapping	Enbody ED; Sprehn CG; Abzhanov A ; et al. (2021) A multispecies BCO2 beak color polymorphism in the Darwin's finch radiation.	GP00002384	BCO2 Q9BYV7	Morphology	"By closely inspecting this region in a combined sample of all 456 finches of the two species we identified a single exonic SNP with a likelihood ratio test (LRT) statistic exceeding 166 (Figure 1C). It is also the only consistently elevated SNP in an analysis of each species alone (Figure S1), is the best fit variant under a recessive model (STAR Methods), and occurs on multiple haplotypes (Figure S1C). This SNP (chr24:6,166,878; p6166878 hereafter) leads to a synonymous change 32 bp into exon 4 of BCO2. " "The functional importance of the observed synonymous change is uncertain, and the presence of an unidentified linked causal variant cannot be completely ruled out (see Conclusions). However, a functional explanation is possible because codon usage can be under strong selection30 and may have functional consequences on translation,30 RNA stability,31 and transcription.32 Notably, p6166878 changes the highest frequency valine codon (ƒGTG = 27.3%) to the lowest (ƒGTA = 7.6%) in the reference genome. This is in line with the observed phenotypic effect of the yellow mutation because a lower abundance codon is expected to be associated with lower protein expression.33 In this case, less BCO2 activity results in more carotenoid deposition in the yellow morph. In fact, we found that yellow homozygotes showed significantly lower BCO2 expression compared to pink homozygotes in the upper beak of developing embryos (Figure 1F) that were sourced from a variety of different species and islands (Table S1): small sample sizes prohibit species-specific analysis. Among the six heterozygous individuals, the pink allele was expressed more than the yellow allele in five samples tested using a droplet-digital PCR (Figure S2C). Differences in expression between the two alleles, and in the absence of alternative splice variants (STAR Methods), raise the possibility that the synonymous change alters transcription factor binding affinity in exon 4. Further research into tissue-specific expression and the specific transcription factors that regulate BCO2 is warranted."	Geospiza scandens (species) Geospiza fortis medium ground-finch - (species) Geospiza conirostris (species) Geospiza magnirostris (species) Geospiza fuliginosa (species) Camarhynchus parvulus (species) Camarhynchus pauper (species) Camarhynchus pallidus woodpecker finch - (species) Geospiza difficilis (species)	Geospiza scandens (species) D Geospiza fortis medium ground-finch - (species) D Geospiza conirostris (species) D Geospiza magnirostris (species) D Geospiza fuliginosa (species) D Camarhynchus parvulus (species) D Camarhynchus pauper (species) D Camarhynchus pallidus woodpecker finch - (species) D Geospiza difficilis (species) D	BCO2 = beta-carotene oxygenase 2	Geospiza scandens (species) Geospiza fortis medium ground-finch - (species) Geospiza conirostris (species) Geospiza magnirostris (species) Geospiza fuliginosa (species) Camarhynchus parvulus (species) Camarhynchus pauper (species) Camarhynchus pallidus woodpecker finch - (species) Geospiza difficilis (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Coloration (feather)	Unknown, Unknown	Setophaga petechia yellow warbler - (species) D	Interspecific	Association Mapping	Baiz MD; Wood AW; Brelsford A ; et al. (2021) Pigmentation Genes Show Evidence of Repeated Divergence and Multiple Bouts of Introgression in Setop[...]	GP00002387	BCO2 Q9BYV7	Morphology		Setophaga pensylvanica Chestnut-sided warbler - (species)	Setophaga petechia yellow warbler - (species) D	BCO2 = beta-carotene oxygenase 2	Setophaga petechia yellow warbler - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Coloration (feather)	Unknown, Unknown	Setophaga citrina hooded warbler - (species) D	Interspecific	Association Mapping	Baiz MD; Wood AW; Brelsford A ; et al. (2021) Pigmentation Genes Show Evidence of Repeated Divergence and Multiple Bouts of Introgression in Setop[...]	GP00002388	BCO2 Q9BYV7	Morphology		Setophaga ruticilla (species)	Setophaga citrina hooded warbler - (species) D	BCO2 = beta-carotene oxygenase 2	Setophaga citrina hooded warbler - (species)	Published - Accepted by Curator