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

Basic Information

Gene ID

4087

Name

SMAD2

Synonymous

JV18|JV18-1|MADH2|MADR2|hMAD-2|hSMAD2;SMAD family member 2;SMAD2;SMAD family member 2

Definition

MAD homolog 2|SMAD, mothers against DPP homolog 2|Sma- and Mad-related protein 2|mother against DPP homolog 2|mothers against decapentaplegic homolog 2

Position

18q21.1

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for SMAD2

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.V405I; chr18:45371778-45371778

lungadenocarcinoma; carcinoma

p.W85C; chr18:45396917-45396917

lungsquamous_cell_carcinoma; carcinoma

p.G421W; chr18:45371730-45371730

lungadenocarcinoma; carcinoma

p.S245C; chr18:45377695-45377695

lungadenocarcinoma; carcinoma

p.Q407E; chr18:45371772-45371772

lungsquamous_cell_carcinoma; carcinoma

p.T430T; chr18:45368312-45368312

lungadenocarcinoma; carcinoma

p.G301V; chr18:45374941-45374941

lungsquamous_cell_carcinoma; carcinoma

p.G401C; chr18:45371790-45371790

lungadenocarcinoma; carcinoma

p.D450N; chr18:45368254-45368254

lungadenocarcinoma; carcinoma

p.A323A; chr18:45374874-45374874

lungadenocarcinoma; carcinoma

p.S359N; chr18:45372093-45372093

lungsmall_cell_carcinoma; carcinoma


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