MLPH (melanophilin)

2018-11-01  

Identity

HGNC
MLPH
LOCATION
2q37.3
LOCUSID
79083
ALIAS
SLAC2-A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79083
MIM: 606526
HGNC: 29643
Ensembl: ENSG00000115648

Variants:

dbSNP: 79083
ClinVar: 79083
TCGA: ENSG00000115648
COSMIC: MLPH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115648ENST00000264605Q9BV36
ENSG00000115648ENST00000264605A0A024R492
ENSG00000115648ENST00000338530Q9BV36
ENSG00000115648ENST00000338530A0A024R4D3
ENSG00000115648ENST00000409373Q9BV36
ENSG00000115648ENST00000410032Q9BV36
ENSG00000115648ENST00000415753H7C371
ENSG00000115648ENST00000422695C9JKV5
ENSG00000115648ENST00000429898C9JI01
ENSG00000115648ENST00000432475H7C052
ENSG00000115648ENST00000434770H7C190
ENSG00000115648ENST00000436965H7C2D8
ENSG00000115648ENST00000437893H7C3K9

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

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
316598082020Single-nucleotide polymorphism rs13426236 contributes to an increased prostate cancer risk via regulating MLPH splicing variant 4.10
319784142020RAB27A/Melanophilin Blocker Inhibits Melanoma Cell Motility and Invasion.5
316598082020Single-nucleotide polymorphism rs13426236 contributes to an increased prostate cancer risk via regulating MLPH splicing variant 4.10
319784142020RAB27A/Melanophilin Blocker Inhibits Melanoma Cell Motility and Invasion.5
308579672019Fusion of ALK to the melanophilin gene MLPH in pediatric Spitz nevi.3
308579672019Fusion of ALK to the melanophilin gene MLPH in pediatric Spitz nevi.3
282667282017Genetic 3'UTR variation is associated with human pigmentation characteristics and sensitivity to sunlight.4
282667282017Genetic 3'UTR variation is associated with human pigmentation characteristics and sensitivity to sunlight.4
264114522016Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites.20
270168012016A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.13
264114522016Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites.20
270168012016A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.13
245849322014The GTPase-deficient Rab27A(Q78L) mutant inhibits melanosome transport in melanocytes through trapping of Rab27A effector protein Slac2-a/melanophilin in their cytosol: development of a novel melanosome-targetinG tag.11
245849322014The GTPase-deficient Rab27A(Q78L) mutant inhibits melanosome transport in melanocytes through trapping of Rab27A effector protein Slac2-a/melanophilin in their cytosol: development of a novel melanosome-targetinG tag.11
218839822012Cellular and clinical report of new Griscelli syndrome type III cases.8

Citation

Dessen P

MLPH (melanophilin)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57673/meetings/cancer-prone-explorer/