Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

10425

Name

ARIH2

Synonym

ARI2|TRIAD1;ariadne homolog 2 (Drosophila);ARIH2;ariadne homolog 2 (Drosophila)

Definition

ARI-2|E3 ubiquitin-protein ligase ARIH2|all-trans retinoic acid inducible RING finger|protein ariadne-2 homolog

Position

3p21

Gene Type

protein-coding

PAH Type

Description

PAH

"We observed linkage evidence in four regions: 3q22 ([median log of the odds (LOD) = 3.43]), 3p12 (median LOD) = 2.35), 2p22 (median LOD = 2.21), and 13q21 (median LOD = 2.09). When used in conjunction with the non-parametric bootstrap, our approach yields high-resolution to identify candidate gene regions containing putative BMPR2-interacting genes. Imputation of the disease model by LOD-score maximization indicates that the 3q22 locus alone predicts most FPAH cases in BMPR2 mutation carriers, providing strong evidence that BMPR2 and the 3q22 locus interact epistatically."
More detail of all Human literatures about ARIH2

External Links

Links to Entrez Gene

10425

Links to all GeneRIF Items

10425

Links to iHOP

10425

Sequence Information

Nucleotide Sequence

>10425 : length: 1482
atgtcagtggacatgaatagccaggggtctgacagcaatgaagaggactatgacccaaat
tgtgaggaagaggaagaagaagaagaagacgaccctggggacatagaggactattacgtg
ggagtagccagcgatgtggagcagcagggggctgatgcctttgatcccgaggagtaccag
ttcacttgcttgacctacaaggaatctgagggtgccctcaatgagcacatgaccagctta
gcttctgtcctaaaggtatctcattcagttgctaaacttatattagttaatttccactgg
caagtttcagagatattggacagatacaagtccaattctgctcaactgcttgttgaggct
cgagttcagcctaatccatcaaaacatgttcccacatcccatccccctcaccactgtgca
gtgtgtatgcagtttgtgcgaaaggaaaacctactctctctggcctgtcagcaccagttt
tgccgcagctgctgggagcagcactgctcagttctcgtcaaggacggcgtgggcgtggga
gtctcttgcatggctcaggactgtccactccgtacaccagaggactttgtgtttccattg
cttcccaatgaagaattgagagagaaatacaggcgctacctcttcagggactatgtggag
agtcattaccagctccagctgtgccctggtgcagactgccccatggttattcgggtacag
gagcctagagctcgccgagtacagtgcaatcggtgcaacgaggtcttctgtttcaagtgt
cgtcagatgtatcacgcacccacagactgtgccacaatccggaaatggctcacgaagtgt
gcagacgactctgaaacagccaactacattagtgctcacactaaagactgtcccaagtgc
aacatctgcattgagaagaatggaggctgcaatcacatgcaatgctccaaatgtaaacac
gacttctgctggatgtgtctaggagattggaagactcatggcagtgaatactatgagtgc
agtcgttacaaggagaatcctgacatcgtgaaccagagccaacaagcccaggcgagggaa
gccctcaagaagtacttattctactttgagaggtgggaaaaccacaataaaagcttgcag
ctagaggcacagacataccagcggattcacgagaagattcaggagagggtcatgaacaat
ctggggacatggatcgactggcagtacctacagaatgctgccaagctcttggccaagtgt
cgatacaccctgcaatacacctacccatatgcatattacatggagtccggacccaggaag
aagctgtttgaataccagcaggctcagctggaggctgagatcgaaaacctctcatggaaa
gtggagcgtgcagacagctatgacagaggggacttggagaaccagatgcatatagcggag
cagcggaggagaaccctgctgaaagatttccatgacacctaa

Protein Sequence

>10425 : length: 493
MSVDMNSQGSDSNEEDYDPNCEEEEEEEEDDPGDIEDYYVGVASDVEQQGADAFDPEEYQ
FTCLTYKESEGALNEHMTSLASVLKVSHSVAKLILVNFHWQVSEILDRYKSNSAQLLVEA
RVQPNPSKHVPTSHPPHHCAVCMQFVRKENLLSLACQHQFCRSCWEQHCSVLVKDGVGVG
VSCMAQDCPLRTPEDFVFPLLPNEELREKYRRYLFRDYVESHYQLQLCPGADCPMVIRVQ
EPRARRVQCNRCNEVFCFKCRQMYHAPTDCATIRKWLTKCADDSETANYISAHTKDCPKC
NICIEKNGGCNHMQCSKCKHDFCWMCLGDWKTHGSEYYECSRYKENPDIVNQSQQAQARE
ALKKYLFYFERWENHNKSLQLEAQTYQRIHEKIQERVMNNLGTWIDWQYLQNAAKLLAKC
RYTLQYTYPYAYYMESGPRKKLFEYQQAQLEAEIENLSWKVERADSYDRGDLENQMHIAE
QRRRTLLKDFHDT



')