HAND2 (heart and neural crest derivatives expressed 2)

2016-10-01  

Identity

HGNC
HAND2
LOCATION
4q34.1
LOCUSID
9464
ALIAS
DHAND2,Hed,Thing2,bHLHa26,dHand
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9464
MIM: 602407
HGNC: 4808
Ensembl: ENSG00000164107

Variants:

dbSNP: 9464
ClinVar: 9464
TCGA: ENSG00000164107
COSMIC: HAND2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164107ENST00000359562P61296
ENSG00000164107ENST00000503024H0YAH1
ENSG00000164107ENST00000621866A0A087WT70

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
242656012013Role of DNA methylation and epigenetic silencing of HAND2 in endometrial cancer development.44
164673582006Hand, an evolutionarily conserved bHLH transcription factor required for Drosophila cardiogenesis and hematopoiesis.38
190084772008Cardiac neural crest expression of Hand2 regulates outflow and second heart field development.25
213502142011Hand2 loss-of-function in Hand1-expressing cells reveals distinct roles in epicardial and coronary vessel development.25
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
215273982011Evidence for a conserved function of heart and neural crest derivatives expressed transcript 2 in mouse and human decidualization.17
234496282013Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q.15
284600222017Korean atrial fibrillation network genome-wide association study for early-onset atrial fibrillation identifies novel susceptibility loci.15
223237232012A Phox2- and Hand2-dependent Hand1 cis-regulatory element reveals a unique gene dosage requirement for Hand2 during sympathetic neurogenesis.14
193486822009Co-regulated expression of HAND2 and DEIN by a bidirectional promoter with asymmetrical activity in neuroblastoma.13

Citation

Dessen P

HAND2 (heart and neural crest derivatives expressed 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56467/hand2