MYO1D (myosin ID)

2014-11-01  

Identity

HGNC
MYO1D
LOCATION
17q11.2
LOCUSID
4642
ALIAS
PPP1R108,myr4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4642
MIM: 606539
HGNC: 7598
Ensembl: ENSG00000176658

Variants:

dbSNP: 4642
ClinVar: 4642
TCGA: ENSG00000176658
COSMIC: MYO1D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176658ENST00000318217O94832
ENSG00000176658ENST00000394649K7EIG7
ENSG00000176658ENST00000577252J3QRR2
ENSG00000176658ENST00000579584J3QRN6
ENSG00000176658ENST00000583621J3KRL0

Expression (GTEx)

0
50
100
150
200
250
300
350
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
386846302024Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans.0
386846302024Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans.0
250067442014Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.55
250067442014Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.55
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.69
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.69
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
173767942007High density SNP association study of a major autism linkage region on chromosome 17.30
173767942007High density SNP association study of a major autism linkage region on chromosome 17.30

Citation

Dessen P

MYO1D (myosin ID)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70629/meetings/css/template-nav.css