CSHL1 (chorionic somatomammotropin hormone like 1)

2014-11-01 Affiliation

Identity

HGNC

CSHL1

LOCATION

17q23.3

LOCUSID

1444

ALIAS

CS-5,CSHP1,CSL,GHB4,hCS-L

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1444
MIM: 603515
HGNC: 2442
Ensembl: ENSG00000204414

Variants:

dbSNP: 1444
ClinVar: 1444
TCGA: ENSG00000204414
COSMIC: CSHL1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000204414	ENST00000259003	A0A0B4J1R0
ENSG00000204414	ENST00000309894	Q14406
ENSG00000204414	ENST00000346606	Q14406
ENSG00000204414	ENST00000346606	I6L999
ENSG00000204414	ENST00000392824	J3QT06
ENSG00000204414	ENST00000438387	Q14406
ENSG00000204414	ENST00000450719	H7C3R7
ENSG00000204414	ENST00000561003	H0YKQ4

Expression (GTEx)

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

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Growth hormone receptor signaling	REACTOME	R-HSA-982772
Prolactin receptor signaling	REACTOME	R-HSA-1170546

Protein levels (Protein atlas)

Not detected

Low

Medium

High

cerebral cortex

cerebellum

hippocampus

caudate

thyroid gland

parathyroid gland

adrenal gland

pituitary 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 ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11

Citation

Dessen P

CSHL1 (chorionic somatomammotropin hormone like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62123/cshl1