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

Basic Information

Gene ID

259236

Name

TMIE

Synonym

DFNB6;transmembrane inner ear;TMIE;transmembrane inner ear

Definition

transmembrane inner ear expressed protein|transmembrane inner ear protein

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 TMIE

External Links

Links to Entrez Gene

259236

Links to all GeneRIF Items

259236

Links to iHOP

259236

Sequence Information

Nucleotide Sequence

>259236 : length: 471
atggcggggtggccgggcgcgggtcccctctgcgtgctgggcggcgccgcactcggggtg
tgcctcgcgggggttgccgggcagctggtggagcccagcacggccccacccaagcccaag
ccgcctccgctgaccaaggagacagtggtgttctgggacatgcgcctgtggcacgtggtg
ggcatcttttcgctcttcgtgttgtccatcatcatcacgctgtgctgtgtcttcaactgt
cgtgtgccacggacccggaaggagatcgaagcccggtacctgcagcgaaaggcagccaag
atgtacacagacaagctggagactgtgccacccctcaatgagctcacagaagtcccagga
gaggataagaagaagaagaagaagaagaagaaggacagtgtggacacagtggccatcaaa
gtagaggaggatgagaagaatgaggccaagaagaagaaaggagagaaatga

Protein Sequence

>259236 : length: 156
MAGWPGAGPLCVLGGAALGVCLAGVAGQLVEPSTAPPKPKPPPLTKETVVFWDMRLWHVV
GIFSLFVLSIIITLCCVFNCRVPRTRKEIEARYLQRKAAKMYTDKLETVPPLNELTEVPG
EDKKKKKKKKKDSVDTVAIKVEEDEKNEAKKKKGEK



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