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Aliases for MLPH Gene

Aliases for MLPH Gene

  • Melanophilin 2 3 3 5
  • Slp Homolog Lacking C2 Domains A 3 4
  • Synaptotagmin-Like Protein 2a 3 4
  • Exophilin-3 3 4
  • SLAC2-A 3
  • SlaC2-A 4
  • SLAC2A 4

External Ids for MLPH Gene

Previous GeneCards Identifiers for MLPH Gene

  • GC02P236433
  • GC02P237077
  • GC02P238411
  • GC02P238682
  • GC02P238177
  • GC02P238060
  • GC02P230187

Summaries for MLPH Gene

Entrez Gene Summary for MLPH Gene

  • This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

GeneCards Summary for MLPH Gene

MLPH (Melanophilin) is a Protein Coding gene. Diseases associated with MLPH include Griscelli Syndrome, Type 3 and Griscelli Syndrome. Among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer. Gene Ontology (GO) annotations related to this gene include actin binding and myosin binding. An important paralog of this gene is MYRIP.

UniProtKB/Swiss-Prot for MLPH Gene

  • Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.

Gene Wiki entry for MLPH Gene

Additional gene information for MLPH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLPH Gene

Genomics for MLPH Gene

GeneHancer (GH) Regulatory Elements for MLPH Gene

Promoters and enhancers for MLPH Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J237485 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 666.8 +4.2 4171 7.7 PKNOX1 NEUROD1 SIN3A YY1 FOS RCOR1 RXRA USF2 ELF1 REST MLPH ENSG00000222022 COL6A3 LOC105373957 MIR6811
GH02J237486 Enhancer 0.8 ENCODE dbSUPER 650.7 +0.1 65 0.2 CTCF SUZ12 CHD1 MNT ZNF7 FOXA1 ZFP36 CUX1 LOC105373957 MLPH
GH02J237517 Promoter 0.8 EPDnew 650.3 +32.6 32596 0.1 ZFHX2 POLR2A TARDBP ZNF444 EGR2 MLPH MIR6811 RNU6-1140P
GH02J237508 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 23.4 +25.8 25808 5.4 FOXA2 ARID4B NEUROD1 SIN3A ZNF2 ZNF48 YY1 ZNF143 RXRA MIER2 MIR6811 LRRFIP1 MLPH RNU6-1140P PRLH LOC105373958 RAB17 ENSG00000222022 COL6A3
GH02J237481 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 20.8 -2.4 -2402 2.8 HDGF PKNOX1 CLOCK FOXA2 SIN3A YY1 ZNF766 FOS HCFC1 RXRA MLPH ILKAP LRRFIP1 ENSG00000222032
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MLPH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MLPH gene promoter:
  • Max
  • c-Myc
  • Max1
  • Evi-1
  • Pax-5

Genomic Locations for MLPH Gene

Genomic Locations for MLPH Gene
69,891 bases
Plus strand
69,891 bases
Plus strand

Genomic View for MLPH Gene

Genes around MLPH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLPH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MLPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLPH Gene

Proteins for MLPH Gene

  • Protein details for MLPH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B3KSS2
    • B4DKW7
    • G5E9G5
    • Q9HA71

    Protein attributes for MLPH Gene

    600 amino acids
    Molecular mass:
    65949 Da
    Quaternary structure:
    • Binds RAB27A that has been activated by GTP-binding via its N-terminus. Binds MYO5A via its C-terminal coiled coil domain.

    Alternative splice isoforms for MLPH Gene


neXtProt entry for MLPH Gene

Post-translational modifications for MLPH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MLPH Gene

Domains & Families for MLPH Gene

Gene Families for MLPH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MLPH Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MLPH: view

No data available for UniProtKB/Swiss-Prot for MLPH Gene

Function for MLPH Gene

Molecular function for MLPH Gene

UniProtKB/Swiss-Prot Function:
Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.

Phenotypes From GWAS Catalog for MLPH Gene

Gene Ontology (GO) - Molecular Function for MLPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IBA --
GO:0005515 protein binding IPI 12446441
GO:0017022 myosin binding IPI,IBA 11980908
GO:0017137 Rab GTPase binding IPI 15357836
GO:0030674 protein binding, bridging IPI 11980908
genes like me logo Genes that share ontologies with MLPH: view
genes like me logo Genes that share phenotypes with MLPH: view

Human Phenotype Ontology for MLPH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for MLPH Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MLPH

Clone Products

  • Addgene plasmids for MLPH

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MLPH Gene

Localization for MLPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLPH Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MLPH gene
Compartment Confidence
extracellular 5
cytoskeleton 4
nucleus 3
cytosol 2
lysosome 1

Gene Ontology (GO) - Cellular Components for MLPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0030425 dendrite IDA 15357836
GO:0030864 cortical actin cytoskeleton IBA --
GO:0048471 perinuclear region of cytoplasm IDA 15357836
genes like me logo Genes that share ontologies with MLPH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MLPH Gene

Pathways & Interactions for MLPH Gene

genes like me logo Genes that share pathways with MLPH: view

Pathways by source for MLPH Gene

Gene Ontology (GO) - Biological Process for MLPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0030050 vesicle transport along actin filament IBA --
GO:0032402 melanosome transport NAS 11980908
genes like me logo Genes that share ontologies with MLPH: view

No data available for SIGNOR curated interactions for MLPH Gene

Drugs & Compounds for MLPH Gene

(2) Drugs for MLPH Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aldosterone Experimental, Investigational Pharma Agonist 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with MLPH: view

Transcripts for MLPH Gene

Unigene Clusters for MLPH Gene

Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MLPH

Clone Products

  • Addgene plasmids for MLPH

Alternative Splicing Database (ASD) splice patterns (SP) for MLPH Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - - - -
SP4: - - - - -
SP5: - - -
SP6: - - - -
SP8: - - - - - - - -
SP9: -
SP10: - - - - - - - -
SP11: -
SP12: - - - - - -
SP13: -
SP14: - - - - -
SP15: - - - -
SP16: - -
SP17: -
SP20: - - - - -
SP21: -

ExUns: 16a · 16b · 16c · 16d ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b · 24c
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - -
SP5: - - - -
SP6: - - -
SP7: - - -
SP9: - - - - -
SP17: - -
SP19: - -
SP22: -

Relevant External Links for MLPH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MLPH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MLPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MLPH Gene

This gene is overexpressed in Prostate (x7.2), Minor Salivary Gland (x6.8), and Stomach (x4.7).

Protein differential expression in normal tissues from HIPED for MLPH Gene

This gene is overexpressed in Nasal epithelium (32.0) and Stomach (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MLPH Gene

NURSA nuclear receptor signaling pathways regulating expression of MLPH Gene:


SOURCE GeneReport for Unigene cluster for MLPH Gene:


Evidence on tissue expression from TISSUES for MLPH Gene

  • Skin(4.8)
  • Kidney(4.2)
  • Nervous system(3.7)
  • Lung(2.9)
  • Intestine(2.4)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MLPH Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • integumentary
  • skeleton
Head and neck:
  • eye
  • eyelid
  • face
  • head
  • hair
  • skin
genes like me logo Genes that share expression patterns with MLPH: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MLPH Gene

Orthologs for MLPH Gene

This gene was present in the common ancestor of chordates.

Orthologs for MLPH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MLPH 34 33
  • 98.29 (n)
(Bos Taurus)
Mammalia MLPH 34 33
  • 76.1 (n)
(Canis familiaris)
Mammalia MLPH 34 33
  • 76.03 (n)
(Rattus norvegicus)
Mammalia Mlph 33
  • 73.57 (n)
(Mus musculus)
Mammalia Mlph 16 34 33
  • 73.12 (n)
(Monodelphis domestica)
Mammalia MLPH 34
  • 44 (a)
(Ornithorhynchus anatinus)
Mammalia MLPH 34
  • 41 (a)
(Gallus gallus)
Aves MLPH 34
  • 37 (a)
(Anolis carolinensis)
Reptilia MLPH 34
  • 41 (a)
(Danio rerio)
Actinopterygii LOC557015 33
  • 50.5 (n)
mlpha 34
  • 34 (a)
mlphb 34
  • 31 (a)
Species where no ortholog for MLPH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MLPH Gene

Gene Tree for MLPH (if available)
Gene Tree for MLPH (if available)
Evolutionary constrained regions (ECRs) for MLPH: view image

Paralogs for MLPH Gene

Paralogs for MLPH Gene

(2) SIMAP similar genes for MLPH Gene using alignment to 12 proteins:

  • C9JI01_HUMAN
  • G5E9G5_HUMAN
  • H7C052_HUMAN
  • H7C190_HUMAN
  • H7C2D8_HUMAN
  • H7C371_HUMAN
  • H7C3K9_HUMAN
  • Q53QF3_HUMAN
  • Q53QV8_HUMAN
genes like me logo Genes that share paralogs with MLPH: view

Variants for MLPH Gene

Sequence variations from dbSNP and Humsavar for MLPH Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs119473031 pathogenic, Griscelli syndrome type 3, Griscelli syndrome 3 (GS3) [MIM:609227] 237,493,529(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs786205551 likely-pathogenic, not provided 237,493,530(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs786205641 likely-pathogenic, not provided 237,527,482(+) CC/C coding_sequence_variant, frameshift, intron_variant, non_coding_transcript_variant
rs139181999 likely-benign, not specified 237,540,927(+) G/A coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs369604551 uncertain-significance, not specified 237,542,658(+) C/A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MLPH Gene

Variant ID Type Subtype PubMed ID
dgv7343n54 CNV loss 21841781
dgv7344n54 CNV gain 21841781
esv1008822 CNV gain 20482838
esv1430875 CNV deletion 17803354
esv1466648 CNV deletion 17803354
esv1581868 CNV deletion 17803354
esv1702045 CNV deletion 17803354
esv1758716 CNV deletion 17803354
esv2111392 CNV deletion 18987734
esv22555 CNV loss 19812545
esv2348994 CNV deletion 18987734
esv2653782 CNV deletion 19546169
esv2657165 CNV deletion 23128226
esv2674992 CNV deletion 23128226
esv2721723 CNV deletion 23290073
esv2721724 CNV deletion 23290073
esv2721725 CNV deletion 23290073
esv2721726 CNV deletion 23290073
esv2721727 CNV deletion 23290073
esv2721728 CNV deletion 23290073
esv29730 CNV gain+loss 19812545
esv3434023 CNV duplication 20981092
nsv1000252 CNV loss 25217958
nsv1010093 CNV gain 25217958
nsv1071659 CNV deletion 25765185
nsv1112781 CNV deletion 24896259
nsv1122021 CNV deletion 24896259
nsv1126581 CNV deletion 24896259
nsv3228 CNV insertion 18451855
nsv475195 CNV novel sequence insertion 20440878
nsv511184 CNV loss 21212237
nsv511845 CNV loss 21212237
nsv584728 CNV loss 21841781
nsv584729 CNV loss 21841781
nsv584730 CNV loss 21841781
nsv584731 CNV loss 21841781
nsv584732 CNV gain 21841781
nsv584736 CNV gain+loss 21841781
nsv820752 CNV deletion 20802225
nsv953213 CNV deletion 24416366
nsv979189 CNV duplication 23825009

Variation tolerance for MLPH Gene

Residual Variation Intolerance Score: 98.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.08; 68.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MLPH Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLPH Gene

Disorders for MLPH Gene

MalaCards: The human disease database

(5) MalaCards diseases for MLPH Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MLPH in MalaCards View complete list of genes associated with diseases


  • Griscelli syndrome 3 (GS3) [MIM:609227]: Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. {ECO:0000269 PubMed:12897212}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MLPH

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MLPH: view

No data available for Genatlas for MLPH Gene

Publications for MLPH Gene

  1. Genome-wide association study identifies new prostate cancer susceptibility loci. (PMID: 21743057) Schumacher FR … Kraft P (Human molecular genetics 2011) 3 44 58
  2. High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. (PMID: 16415175) Park JW … Beaty TH (Journal of medical genetics 2006) 3 44 58
  3. In vitro reconstitution of a transport complex containing Rab27a, melanophilin and myosin Va. (PMID: 17045265) Wu X … Hammer JA (FEBS letters 2006) 3 22 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for MLPH Gene

Sources for MLPH Gene

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