SOHLH1 (spermatogenesis and oogenesis specific basic helix-loop-helix 1)

2019-04-01  

Identity

HGNC
SOHLH1
LOCATION
9q34.3
LOCUSID
402381
ALIAS
C9orf157,NOHLH,ODG5,SPATA27,SPGF32,TEB2,bA100C15.3,bHLHe80

Other Information

Locus ID:

NCBI: 402381
MIM: 610224
HGNC: 27845
Ensembl: ENSG00000165643

Variants:

dbSNP: 402381
ClinVar: 402381
TCGA: ENSG00000165643
COSMIC: SOHLH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165643ENST00000298466Q5JUK2
ENSG00000165643ENST00000425225Q5JUK2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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

References

Pubmed IDYearTitleCitations
384487412024Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.0
384487412024Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.0
344488462022The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition.2
344488462022The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition.2
332368492021Stimulated by retinoic acid gene 8 (STRA8) interacts with the germ cell specific bHLH factor SOHLH1 and represses c-KIT expression in vitro.5
332368492021Stimulated by retinoic acid gene 8 (STRA8) interacts with the germ cell specific bHLH factor SOHLH1 and represses c-KIT expression in vitro.5
292402602018Sohlh1 suppresses glioblastoma cell proliferation, migration, and invasion by inhibition of Wnt/β-catenin signaling.5
292402602018Sohlh1 suppresses glioblastoma cell proliferation, migration, and invasion by inhibition of Wnt/β-catenin signaling.5
254636352015Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population.8
255272342015Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.16
263756652015Immunohistochemical Study of Expression of Sohlh1 and Sohlh2 in Normal Adult Human Tissues.6
254636352015Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population.8
255272342015Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.16
263756652015Immunohistochemical Study of Expression of Sohlh1 and Sohlh2 in Normal Adult Human Tissues.6
205061352010Mutations in SOHLH1 gene associate with nonobstructive azoospermia.39

Citation

Dessen P

SOHLH1 (spermatogenesis and oogenesis specific basic helix-loop-helix 1)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57908/js/lib/favicon/gene-explorer/