Property Summary

NCBI Gene PubMed Count 25
PubMed Score 38.28
PubTator Score 30.03

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count
Malignant neoplasm of prostate 67
Disease Target Count P-value
non-small cell lung cancer 2798 1.05331366505231E-16
malignant mesothelioma 3163 2.30821694315414E-10
nasopharyngeal carcinoma 1056 1.34644275756472E-7
lung cancer 4473 5.77787525684086E-7
pancreatic cancer 2300 1.93661444407223E-6
Breast cancer 3099 9.67908763678553E-6
intraductal papillary-mucinous adenoma (IPMA) 2956 1.87400160927597E-5
intraductal papillary-mucinous carcinoma (IPMC) 2988 6.00028444920796E-5
subependymal giant cell astrocytoma 2287 3.79033441991424E-4
interstitial cystitis 2299 4.64069247472804E-4
invasive ductal carcinoma 2950 7.8335426649529E-4
pancreatic ductal adenocarcinoma liver metastasis 1795 8.9176000565229E-4
active ulcerative colitis 477 9.01460552331223E-4
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00382517525962423
breast carcinoma 1614 0.00531252328035608
fibroadenoma 557 0.00774882352051155
ductal carcinoma in situ 1745 0.0139563052025159
esophageal adenocarcinoma 737 0.0179350527878244
osteosarcoma 7933 0.0237519680920538
Disease Target Count Z-score Confidence
Prostate cancer 172 0.0 2.0
Disease Target Count
GRISCELLI SYNDROME, TYPE 3 2
Disease Target Count
Griscelli syndrome 3 2

Expression

Synonym

Accession Q9BV36 B3KSS2 B4DKW7 G5E9G5 Q9HA71
Symbols SLAC2-A

Gene

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG
Chicken OMA EggNOG
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

 GWAS Trait (1)

Gene RIF (12)

PMID Text
26411452 These results unravel a hidden link between AR and a functional putative PCa risk SNP, whose allele alteration affects androgen regulation of its host gene MLPH.
24584932 The results showed that Rab27A(Q78L) is unable to localize on mature melanosomes and that its inhibitory activity on melanosome transport is completely dependent on its binding to the Rab27A effector Slac2-a/melanophilin.
21883982 The pathologic defect in Griscelli syndrome 3 came from the MLPH R35W substitution, which induced aggregation of melanosomes in the perinuclear area of melanocytes because of failure to interact with RAB27A.
16415175 Observational study of gene-disease association. (HuGE Navigator)
15517821 deletion 2q37.3 is implicated in autism
12897212 Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).
12221080 The C-terminus of Slac2-a/melanophilin contains a novel actin-binding site, which may be involved in capture of Rab27-containing organelles in the actin-enriched cell periphery.
12189142 SHD1 of Slac2-a/melanophilin alone is both necessary and sufficient for high affinity specific recognition of the GTP-bound form of Rab27A
12062444 Melanophilin has a role in bridging Rab27a on melanosomes and myosin Va on actin filaments during melanosome transport.
11980908 links rab27a and myosin Va function in melanosome transport
More...

AA Sequence

MGKKLDLSKLTDEEAQHVLEVVQRDFDLRRKEEERLEALKGKIKKESSKRELLSDTAHLNETHCARCLQP      1 - 70
YQLLVNSKRQCLECGLFTCKSCGRVHPEEQGWICDPCHLARVVKIGSLEWYYEHVKARFKRFGSAKVIRS     71 - 140
LHGRLQGGAGPELISEERSGDSDQTDEDGEPGSEAQAQAQPFGSKKKRLLSVHDFDFEGDSDDSTQPQGH    141 - 210
SLHLSSVPEARDSPQSLTDESCSEKAAPHKAEGLEEADTGASGCHSHPEEQPTSISPSRHGALAELCPPG    211 - 280
GSHRMALGTAAALGSNVIRNEQLPLQYLADVDTSDEESIRAHVMASHHSKRRGRASSESQIFELNKHISA    281 - 350
VECLLTYLENTVVPPLAKGLGAGVRTEADVEEEALRRKLEELTSNVSDQETSSEEEEAKDEKAEPNRDKS    351 - 420
VGPLPQADPEVGTAAHQTNRQEKSPQDPGDPVQYNRTTDEELSELEDRVAVTASEVQQAESEVSDIESRI    421 - 490
AALRAAGLTVKPSGKPRRKSNLPIFLPRVAGKLGKRPEDPNADPSSEAKAMAVPYLLRRKFSNSLKSQGK    491 - 560
DDDSFDRKSVYRGSLTQRNPNARKGMASHTFAKPVVAHQS                                  561 - 600
//

Text Mined References (26)

PMID Year Title
26411452 2016 Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites.
24584932 2014 The 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.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
21883982 2012 Cellular and clinical report of new Griscelli syndrome type III cases.
21743057 2011 Genome-wide association study identifies new prostate cancer susceptibility loci.
17045265 2006 In vitro reconstitution of a transport complex containing Rab27a, melanophilin and myosin Va.
16415175 2006 High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15517821 2004 Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
More...