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

Basic Information

Gene ID

51188

Name

SS18L2

Synonym

KIAA-iso;synovial sarcoma translocation gene on chromosome 18-like 2;SS18L2;synovial sarcoma translocation gene on chromosome 18-like 2

Definition

SS18-like protein 2|SYT homolog 2

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 SS18L2

External Links

Links to Entrez Gene

51188

Links to all GeneRIF Items

51188

Links to iHOP

51188

Sequence Information

Nucleotide Sequence

>51188 : length: 234
atgtcggtggccttcgtaccggactggctgaggggcaaggcggaagtcaatcaagagact
atccagcggctccttgaggagaatgaccagctgatccgctgtattgtggagtatcagaac
aagggccgcgggaacgagtgcgtgcagtaccagcatgtgttacatagaaatctcatttat
ttggctaccattgcagatgccagtccaaccagcacttcaaaagcaatggaataa

Protein Sequence

>51188 : length: 77
MSVAFVPDWLRGKAEVNQETIQRLLEENDQLIRCIVEYQNKGRGNECVQYQHVLHRNLIY
LATIADASPTSTSKAME



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