HAND1 (heart and neural crest derivatives expressed 1)

2015-02-01  

Identity

HGNC
HAND1
LOCATION
5q33.2
LOCUSID
9421
ALIAS
Hxt,Thing1,bHLHa27,eHand

Other Information

Locus ID:

NCBI: 9421
MIM: 602406
HGNC: 4807
Ensembl: ENSG00000113196

Variants:

dbSNP: 9421
ClinVar: 9421
TCGA: ENSG00000113196
COSMIC: HAND1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113196ENST00000231121O96004

Expression (GTEx)

0
50
100
150
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

Pathways

PathwaySourceExternal ID
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
213502142011Hand2 loss-of-function in Hand1-expressing cells reveals distinct roles in epicardial and coronary vessel development.25
182766072008A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts.23
160434832005MEF2-dependent recruitment of the HAND1 transcription factor results in synergistic activation of target promoters.18
195869232009A functional genetic study identifies HAND1 mutations in septation defects of the human heart.17
195869232009A functional genetic study identifies HAND1 mutations in septation defects of the human heart.17
223237232012A Phox2- and Hand2-dependent Hand1 cis-regulatory element reveals a unique gene dosage requirement for Hand2 during sympathetic neurogenesis.14
250508612014Directed differentiation of patient-specific induced pluripotent stem cells identifies the transcriptional repression and epigenetic modification of NKX2-5, HAND1, and NOTCH1 in hypoplastic left heart syndrome.14
232920072013Altered mucosal DNA methylation in parallel with highly active Helicobacter pylori-related gastritis.13
241823322013DNA methylation status of NKX2-5, GATA4 and HAND1 in patients with tetralogy of fallot.13
220434842011Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.12

Citation

Dessen P

HAND1 (heart and neural crest derivatives expressed 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/54976/hand1