BHLHE41
Hypoxia response
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Huerta-Sánchez E; Degiorgio M; Pagani L ; et al. (2013)
Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations.
GP00000144
BHLHE41
Q9C0J9
Physiology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
BHLHE41
Homo sapiens
human - (species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Simonson TS; Yang Y; Huff CD ; et al. (2010)
Genetic evidence for high-altitude adaptation in Tibet.
3 Additional References
GP00000261
EGLN1
Q9GZT9
Physiology
possibly D4E
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
EGLN1
Homo sapiens
human - (species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Bigham A; Bauchet M; Pinto D ; et al. (2010)
Identifying signatures of natural selection in Tibetan and Andean populations using dense genome sca[...]
GP00000262
EGLN1
Q9GZT9
Physiology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
EGLN1
Homo sapiens
human - (species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Coding,
SNP
Panthera uncia
snow leopard - (species) D
Interspecific
Association Mapping
Cho YS; Hu L; Hou H ; et al. (2013)
The tiger genome and comparative analysis with lion and snow leopard genomes.
GP00001358
EGLN1
Q9GZT9
Physiology
p.Met39Lys
Panthera
(genus)
Panthera uncia
snow leopard - (species) D
EGLN1
Panthera uncia
snow leopard - (species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Coding,
SNP
Heterocephalus glaber
naked mole-rat - (species) D
Interspecific
Association Mapping
Kim EB; Fang X; Fushan AA ; et al. (2011)
Genome sequencing reveals insights into physiology and longevity of the naked mole rat.
GP00001759
EGLN1
Q9GZT9
Physiology
unique amino-acid changes in different positions of EGLN1 (Pro15, Arg17 and Arg36)
Rodentia
rodent - (order)
Heterocephalus glaber
naked mole-rat - (species) D
EGLN1
Heterocephalus glaber
naked mole-rat - (species)
Published - Accepted by Curator
EGLN1
High-altitude adaptation
Hypoxia response
Unknown,
Unknown
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
Graham AM; McCracken KG (2019)
Convergent evolution on the hypoxia-inducible factor (HIF) pathway genes EGLN1 and EPAS1 in high-alt[...]
GP00002135
EGLN1
Q9GZT9
Physiology
Physiology
probably cis-regulatory because no nonsynonymous mutations in the coding exon with high Fst
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
EGLN1
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
EGLN1
High-altitude adaptation
Hypoxia response
Unknown,
Unknown
Anas georgica
yellow-billed pintail - (species) D
Intraspecific
Candidate Gene
Graham AM; McCracken KG (2019)
Convergent evolution on the hypoxia-inducible factor (HIF) pathway genes EGLN1 and EPAS1 in high-alt[...]
GP00002136
EGLN1
Q9GZT9
Physiology
Physiology
probably cis-regulatory because no nonsynonymous mutations in the coding exon with high Fst
Anas georgica
yellow-billed pintail - (species)
Anas georgica
yellow-billed pintail - (species) D
EGLN1
Anas georgica
yellow-billed pintail - (species)
Published - Accepted by Curator
EGNL1
High-altitude adaptation
Hypoxia response
Cis-regulatory,
Unknown
Anas cyanoptera
cinnamon teal - (species) D
Intraspecific
Candidate Gene
Graham AM; McCracken KG (2019)
Convergent evolution on the hypoxia-inducible factor (HIF) pathway genes EGLN1 and EPAS1 in high-alt[...]
GP00002134
EGLN1
Q9GZT9
Physiology
Physiology
probably cis-regulatory because no nonsynonymous mutations in the coding exon with high Fst
Anas cyanoptera
cinnamon teal - (species)
Anas cyanoptera
cinnamon teal - (species) D
EGNL1
Anas cyanoptera
cinnamon teal - (species)
Published - Accepted by Curator
EPAS1
Hypoxia response
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Simonson TS; Yang Y; Huff CD ; et al. (2010)
Genetic evidence for high-altitude adaptation in Tibet.
1 Additional References
GP00000274
EPAS1
Q99814
Physiology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
EPAS1
Homo sapiens
human - (species)
Published - Accepted by Curator
EPAS1
Hypoxia response
Coding,
SNP
Panthera uncia
snow leopard - (species) D
Interspecific
Association Mapping
Cho YS; Hu L; Hou H ; et al. (2013)
The tiger genome and comparative analysis with lion and snow leopard genomes.
GP00001357
EPAS1
Q99814
Physiology
two species-specific amino acid changes: Val663Ile and Cys794Arg - whether both or only one is affecting the phenotype is unknown
Panthera
(genus)
Panthera uncia
snow leopard - (species) D
EPAS1
Panthera uncia
snow leopard - (species)
Published - Accepted by Curator
EPAS1
Hypoxia response
Coding,
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Association Mapping
Schweizer RM; Velotta JP; Ivy CM ; et al. (2019)
Physiological and genomic evidence that selection on the transcription factor Epas1 has altered card[...]
GP00002062
EPAS1
Q99814
Physiology
non-synonymous polymorphism located at site 755 in the 14th exon that changes threonine to methionine Thr755Met
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
EPAS1
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
EPAS1
High-altitude adaptation
Hypoxia response
Unknown,
Unknown
Anas cyanoptera
cinnamon teal - (species) D
Intraspecific
Candidate Gene
Graham AM; McCracken KG (2019)
Convergent evolution on the hypoxia-inducible factor (HIF) pathway genes EGLN1 and EPAS1 in high-alt[...]
GP00002131
EPAS1
Q99814
Physiology
Physiology
several candidate coding mutations
Anas cyanoptera
cinnamon teal - (species)
Anas cyanoptera
cinnamon teal - (species) D
EPAS1
Anas cyanoptera
cinnamon teal - (species)
Published - Accepted by Curator
EPAS1
High-altitude adaptation
Hypoxia response
Unknown,
Unknown
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
Graham AM; McCracken KG (2019)
Convergent evolution on the hypoxia-inducible factor (HIF) pathway genes EGLN1 and EPAS1 in high-alt[...]
GP00002132
EPAS1
Q99814
Physiology
Physiology
several candidate coding mutations
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
EPAS1
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
EPAS1
High-altitude adaptation
Hypoxia response
Unknown,
Unknown
Anas georgica
yellow-billed pintail - (species) D
Intraspecific
Candidate Gene
Graham AM; McCracken KG (2019)
Convergent evolution on the hypoxia-inducible factor (HIF) pathway genes EGLN1 and EPAS1 in high-alt[...]
GP00002133
EPAS1
Q99814
Physiology
Physiology
several candidate coding mutations
Anas georgica
yellow-billed pintail - (species)
Anas georgica
yellow-billed pintail - (species) D
EPAS1
Anas georgica
yellow-billed pintail - (species)
Published - Accepted by Curator
hemoglobin; HBA
Hypoxia response
Coding,
SNP
Lama
(genus)
Interspecific
Candidate Gene
Kleinschmidt T; März J; Jürgens KD ; et al. (1986)
Interaction of allosteric effectors with alpha-globin chains and high altitude respiration of mammal[...]
GP00000454
HBA1
P69905
Physiology
Asp122His
Mammalia
mammals - (class)
Lama
(genus)
hemoglobin; HBA
Lama
(genus)
Published - Accepted by Curator
hemoglobin; HBA and HBB
Hypoxia response
Coding,
SNP
Crocodylus niloticus
Nile crocodile - (species)
Intergeneric or Higher
Candidate Gene
Komiyama NH; Miyazaki G; Tame J ; et al. (1995)
Transplanting a unique allosteric effect from crocodile into human haemoglobin.
GP00000455
HBA1
P69905
Physiology
No more than 12 amino acid substitutions required for providing crocodile-like properties in engineered human Hb - effect of single amino acid changes not tested
Homo sapiens
human - (species)
Crocodylus niloticus
Nile crocodile - (species)
hemoglobin; HBA and HBB
Crocodylus niloticus
Nile crocodile - (species)
Published - Accepted by Curator
hemoglobin; HBA-T1 and T2 paralogues
Hypoxia response
5 Mutations:
Coding
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Candidate Gene
Storz JF; Sabatino SJ; Hoffmann FG ; et al. (2007)
The molecular basis of high-altitude adaptation in deer mice.
2 Additional References
GP00000456
HBA1
P69905
Physiology
5 mutations
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
hemoglobin; HBA-T1 and T2 paralogues
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas cyanoptera
cinnamon teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000457
HBA1
P69905
Physiology
Asn9Ser
Anas cyanoptera
cinnamon teal - (species)
Anas cyanoptera
cinnamon teal - (species) D
hemoglobin; HBA2
Anas cyanoptera
cinnamon teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000458
HBA1
P69905
Physiology
Ala77Thr
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBA2
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000459
HBAD
P02001
Physiology
Ser130Phe
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBA2
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000460
HBA1
P69905
Physiology
Ala77Thr
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBA2
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000461
HBAD
P02001
Physiology
Val96Ala
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBA2
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anser indicus
bar-headed goose - (species) D
Interspecific
Candidate Gene
Jessen TH; Weber RE; Fermi G ; et al. (1991)
Adaptation of bird hemoglobins to high altitudes: demonstration of molecular mechanism by protein en[...]
2 Additional References
GP00000462
HBA1
P69905
Physiology
Pro119Ala
Anser anser
domestic goose - (species)
Anser indicus
bar-headed goose - (species) D
hemoglobin; HBA2
Anser indicus
bar-headed goose - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Lophonetta specularioides
crested duck - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000463
HBA1
P69905
Physiology
Ala5Thr
Lophonetta specularioides
crested duck - (species)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBA2
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Merganetta armata
(species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000464
HBA1
P69905
Physiology
Ala77Thr
Merganetta armata
(species)
Merganetta armata
(species) D
hemoglobin; HBA2
Merganetta armata
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
2 Mutations:
Coding
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000465
HBAD
P02001
Physiology
2 mutations
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBA2
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000467
HBB
P68871
Physiology
2 mutations
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBB
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas georgica
yellow-billed pintail - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000468
HBB
P68871
Physiology
2 mutations
Anas georgica
yellow-billed pintail - (species)
Anas georgica
yellow-billed pintail - (species) D
hemoglobin; HBB
Anas georgica
yellow-billed pintail - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
GP00000469
HBB
P68871
Physiology
2 mutations
Anas
ducks - (genus)
Anas puna
(species) D
hemoglobin; HBB
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Lophonetta specularioides
crested duck - (species) D
Interspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
GP00000470
HBB
P68871
Physiology
2 mutations
Anatidae
waterfowl - (family)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBB
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000471
HBB
P68871
Physiology
Asp94Glu
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBB
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Lophonetta specularioides
crested duck - (species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000472
HBB
P68871
Physiology
Asp94Glu
Lophonetta specularioides
crested duck - (species)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBB
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Jessen TH; Weber RE; Fermi G ; et al. (1991)
Adaptation of bird hemoglobins to high altitudes: demonstration of molecular mechanism by protein en[...]
2 Additional References
GP00000473
HBB
P68871
Physiology
Leu55Ser
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000474
HBB
P68871
Physiology
Ala86Ser
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
3 Mutations:
Coding
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000475
HBA1
P69905
Physiology
3 mutations
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB-T1 and T2 paralogues
Hypoxia response
4 Mutations:
Coding
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Candidate Gene
Storz JF; Runck AM; Sabatino SJ ; et al. (2009)
Evolutionary and functional insights into the mechanism underlying high-altitude adaptation of deer [...]
1 Additional References
GP00000476
HBB
P68871
Physiology
4 mutations
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
hemoglobin; HBB-T1 and T2 paralogues
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
PPAR-alpha
Hypoxia response
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Simonson TS; Yang Y; Huff CD ; et al. (2010)
Genetic evidence for high-altitude adaptation in Tibet.
1 Additional References
GP00000917
PPARA
Q07869
Physiology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
PPAR-alpha
Homo sapiens
human - (species)
Published - Accepted by Curator