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Aliases for RPH3AL Gene

Aliases for RPH3AL Gene

  • Rabphilin 3A-Like (Without C2 Domains) 2 3 5
  • No C2 Domains Protein 3 4
  • NOC2 3 4
  • Rabphilin-3A-Like Protein 4

External Ids for RPH3AL Gene

Previous GeneCards Identifiers for RPH3AL Gene

  • GC17M000112
  • GC17M000100
  • GC17M000062

Summaries for RPH3AL Gene

Entrez Gene Summary for RPH3AL Gene

  • The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]

GeneCards Summary for RPH3AL Gene

RPH3AL (Rabphilin 3A-Like (Without C2 Domains)) is a Protein Coding gene. Diseases associated with RPH3AL include Medulloblastoma. Among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer. GO annotations related to this gene include calcium ion binding and syntaxin binding.

UniProtKB/Swiss-Prot for RPH3AL Gene

  • Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells (By similarity). Acts as a potential RAB3B effector protein in epithelial cells.

Gene Wiki entry for RPH3AL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPH3AL Gene

Genomics for RPH3AL Gene

Regulatory Elements for RPH3AL Gene

Enhancers for RPH3AL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RPH3AL on UCSC Golden Path with GeneCards custom track

Promoters for RPH3AL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RPH3AL on UCSC Golden Path with GeneCards custom track

Genomic Location for RPH3AL Gene

212,389 bp from pter
386,254 bp from pter
173,866 bases
Minus strand

Genomic View for RPH3AL Gene

Genes around RPH3AL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPH3AL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPH3AL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPH3AL Gene

Proteins for RPH3AL Gene

  • Protein details for RPH3AL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Rab effector Noc2
    Protein Accession:
    Secondary Accessions:
    • D3DTG7
    • Q9BSB3

    Protein attributes for RPH3AL Gene

    315 amino acids
    Molecular mass:
    34464 Da
    Quaternary structure:
    • Recruited to dense-core vesicles through specific interaction with RAB27A in endocrine cells. Interacts with RAB3A, RAB3B, RAB3C and RAB3D. Interacts with ZYX (By similarity).

    Alternative splice isoforms for RPH3AL Gene


neXtProt entry for RPH3AL Gene

Proteomics data for RPH3AL Gene at MOPED

Post-translational modifications for RPH3AL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RPH3AL Gene

Domains & Families for RPH3AL Gene

Protein Domains for RPH3AL Gene

Suggested Antigen Peptide Sequences for RPH3AL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The N-terminus of the RabBD domain is necessary and sufficient for interaction with RAB27A.
  • Contains 1 FYVE-type zinc finger.
  • The N-terminus of the RabBD domain is necessary and sufficient for interaction with RAB27A.
  • Contains 1 RabBD (Rab-binding) domain.
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with RPH3AL: view

No data available for Gene Families for RPH3AL Gene

Function for RPH3AL Gene

Molecular function for RPH3AL Gene

GENATLAS Biochemistry:
rabphillin 3A-like,ortholog of rat Rph3al,involved in regulated endocrine exocytosis,but not in the oncogenesis of medulloblastoma or other carcinomas
UniProtKB/Swiss-Prot Function:
Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells (By similarity). Acts as a potential RAB3B effector protein in epithelial cells.

Gene Ontology (GO) - Molecular Function for RPH3AL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA --
GO:0005515 protein binding IPI 25416956
GO:0030276 clathrin binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RPH3AL: view
genes like me logo Genes that share phenotypes with RPH3AL: view

Animal Models for RPH3AL Gene

MGI Knock Outs for RPH3AL:

Animal Model Products

miRNA for RPH3AL Gene

miRTarBase miRNAs that target RPH3AL

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RPH3AL Gene

Localization for RPH3AL Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPH3AL Gene

Cytoplasm. Cytoplasmic vesicle, secretory vesicle membrane. Note=Recruited to the vesicle membrane in a GTP- and RAB3B-dependent manner in epithelial cells.

Subcellular locations from

Jensen Localization Image for RPH3AL Gene COMPARTMENTS Subcellular localization image for RPH3AL gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for RPH3AL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA --
GO:0030658 transport vesicle membrane IEA --
genes like me logo Genes that share ontologies with RPH3AL: view

Pathways & Interactions for RPH3AL Gene

genes like me logo Genes that share pathways with RPH3AL: view

Pathways by source for RPH3AL Gene

Gene Ontology (GO) - Biological Process for RPH3AL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017158 NOT regulation of calcium ion-dependent exocytosis IEA,IBA --
GO:0048791 NOT calcium ion-regulated exocytosis of neurotransmitter IBA --
GO:0050714 positive regulation of protein secretion IEA --
genes like me logo Genes that share ontologies with RPH3AL: view

No data available for SIGNOR curated interactions for RPH3AL Gene

Drugs & Compounds for RPH3AL Gene

(1) Drugs for RPH3AL Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RPH3AL: view

Transcripts for RPH3AL Gene

Unigene Clusters for RPH3AL Gene

Rabphilin 3A-like (without C2 domains):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RPH3AL Gene

No ASD Table

Relevant External Links for RPH3AL Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RPH3AL Gene

mRNA expression in normal human tissues for RPH3AL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RPH3AL Gene

This gene is overexpressed in Pituitary (x6.5) and Pancreas (x6.2).

Protein differential expression in normal tissues from HIPED for RPH3AL Gene

This gene is overexpressed in Platelet (35.0), Pancreas (24.4), and Heart (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RPH3AL Gene

SOURCE GeneReport for Unigene cluster for RPH3AL Gene Hs.651925

mRNA Expression by UniProt/SwissProt for RPH3AL Gene

Tissue specificity: Moderate to high levels of expression in thyroid, ovary, stomach, heart, pancreas, skeletal muscle, kidney and liver. Also detected in epithelial cells.
genes like me logo Genes that share expression patterns with RPH3AL: view

Protein tissue co-expression partners for RPH3AL Gene

Primer Products

Orthologs for RPH3AL Gene

This gene was present in the common ancestor of chordates.

Orthologs for RPH3AL Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia RPH3AL 35
  • 88.22 (n)
  • 87.63 (a)
  • 85 (a)
(Canis familiaris)
Mammalia RPH3AL 35
  • 86.34 (n)
  • 86.89 (a)
  • 85 (a)
(Mus musculus)
Mammalia Rph3al 35
  • 85.05 (n)
  • 85.77 (a)
Rph3al 16
Rph3al 36
  • 80 (a)
(Rattus norvegicus)
Mammalia Rph3al 35
  • 84.15 (n)
  • 85.21 (a)
(Monodelphis domestica)
Mammalia RPH3AL 36
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia RPH3AL 36
  • 56 (a)
(Pan troglodytes)
Mammalia RPH3AL 36
  • 99 (a)
(Gallus gallus)
Aves RPH3AL 35
  • 70.86 (n)
  • 65.03 (a)
(Anolis carolinensis)
Reptilia RPH3AL 36
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rph3al 35
  • 64.79 (n)
  • 64.08 (a)
(Danio rerio)
Actinopterygii LOC101884118 35
  • 68.99 (n)
  • 68.7 (a)
rph3al 36
  • 68 (a)
Species with no ortholog for RPH3AL:
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RPH3AL Gene

Gene Tree for RPH3AL (if available)
Gene Tree for RPH3AL (if available)

Paralogs for RPH3AL Gene

genes like me logo Genes that share paralogs with RPH3AL: view

No data available for Paralogs for RPH3AL Gene

Variants for RPH3AL Gene

Sequence variations from dbSNP and Humsavar for RPH3AL Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1138504 -- 212,693(-) CGGTG(A/T)TCACA intron-variant, utr-variant-3-prime
rs4072491 -- 350,848(-) GTTTC(C/T)TGCCC intron-variant
rs4074549 -- 305,703(+) ACACC(C/T)GGTGG intron-variant
rs4129926 -- 249,456(-) TGCTC(C/T)GTGCC intron-variant
rs4247111 -- 379,451(+) TTGGA(G/T)GGGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RPH3AL Gene

Variant ID Type Subtype PubMed ID
nsv907450 CNV Loss 21882294
nsv907451 CNV Loss 21882294
nsv469538 CNV Complex 16826518
nsv907452 CNV Gain 21882294
nsv827848 CNV Gain 20364138
nsv509642 CNV Insertion 20534489
nsv457627 CNV Gain 19166990
nsv907453 CNV Loss 21882294
nsv907454 CNV Loss 21882294
esv2422420 CNV Duplication 17116639
esv2715210 CNV Deletion 23290073
esv2715211 CNV Deletion 23290073
esv25221 CNV Gain+Loss 19812545
nsv1936 CNV Insertion 18451855
esv2016708 CNV Deletion 18987734
nsv820416 CNV Duplication 20802225
nsv112249 CNV Loss 16902084
nsv821266 CNV Deletion 20802225
dgv26n47 CNV Gain 21111241
nsv112500 CNV Loss 16902084
esv2715212 CNV Deletion 23290073
esv1238030 CNV Deletion 17803354
esv2715213 CNV Deletion 23290073
esv271538 CNV Insertion 20981092
esv2715214 CNV Deletion 23290073
esv23514 CNV Gain 19812545
esv2741771 CNV Deletion 23290073
esv2715215 CNV Deletion 23290073
esv2715216 CNV Deletion 23290073
esv24406 CNV Loss 19812545
esv1001313 CNV Gain 20482838
esv2657429 CNV Deletion 23128226
esv2715217 CNV Deletion 23290073
esv2715219 CNV Deletion 23290073
esv1506917 CNV Insertion 17803354
esv1668100 CNV Insertion 17803354
esv2715220 CNV Deletion 23290073
nsv1937 CNV Insertion 18451855
nsv519390 CNV Gain+Loss 19592680
esv2613198 CNV Deletion 19546169
nsv820771 CNV Deletion 20802225
esv25469 CNV Loss 19812545
esv2715221 CNV Deletion 23290073
esv1555814 CNV Deletion 17803354
esv2715222 CNV Deletion 23290073
nsv821580 CNV Deletion 20802225
esv28817 CNV Gain+Loss 19812545
nsv512459 CNV Loss 21212237
esv1006300 CNV Loss 20482838
esv994991 CNV Deletion 20482838
esv2675060 CNV Deletion 23128226
nsv499514 CNV Gain 21111241
nsv514824 CNV Complex 21397061
esv2715223 CNV Deletion 23290073
esv2715224 CNV Deletion 23290073
esv3102 CNV Deletion 18987735
esv1474742 CNV Deletion 17803354
esv999265 CNV Deletion 20482838
esv2715225 CNV Deletion 23290073
esv2479428 CNV Insertion 19546169
esv2715226 CNV Deletion 23290073
esv25604 CNV Gain 19812545
esv991715 CNV Gain 20482838
esv2715227 CNV Deletion 23290073
dgv519e199 CNV Deletion 23128226
esv2715228 CNV Deletion 23290073
esv2715230 CNV Deletion 23290073
esv1621302 CNV Deletion 17803354
esv1074806 CNV Deletion 17803354
esv1010573 CNV Insertion 20482838
esv1004648 CNV Deletion 20482838
nsv457628 CNV Loss 19166990
esv2627504 CNV Deletion 19546169
esv22684 CNV Gain 19812545
nsv820865 CNV Deletion 20802225
nsv512460 CNV Loss 21212237
esv1654041 CNV Insertion 17803354
esv2715231 CNV Deletion 23290073
esv2715232 CNV Deletion 23290073
esv23927 CNV Loss 19812545
esv2715233 CNV Deletion 23290073
esv2166716 CNV Deletion 18987734
esv2715234 CNV Deletion 23290073
esv2676984 CNV Deletion 23128226
esv2715235 CNV Deletion 23290073
esv2715236 CNV Deletion 23290073
esv2715237 CNV Deletion 23290073
esv2715238 CNV Deletion 23290073
esv2715239 CNV Deletion 23290073
dgv3018n71 CNV Loss 21882294
nsv1938 CNV Insertion 18451855
esv2172937 CNV Deletion 18987734
esv2715241 CNV Deletion 23290073
esv2715242 CNV Deletion 23290073
esv27547 CNV Gain 19812545
dgv425e201 CNV Deletion 23290073
esv2715244 CNV Deletion 23290073
esv2715246 CNV Deletion 23290073
esv2715247 CNV Deletion 23290073
esv2124579 CNV Deletion 18987734
esv2715249 CNV Deletion 23290073
esv2715250 CNV Deletion 23290073
esv2715253 CNV Deletion 23290073
esv2053131 CNV Deletion 18987734
esv2715254 CNV Deletion 23290073
esv2715255 CNV Deletion 23290073
esv2715256 CNV Deletion 23290073
esv2715257 CNV Deletion 23290073
nsv470565 CNV Loss 18288195
esv1009420 CNV Insertion 20482838
nsv821350 CNV Duplication 20802225
esv22207 CNV Gain+Loss 19812545
esv1599430 CNV Insertion 17803354
esv1606158 CNV Insertion 17803354
esv1146785 CNV Insertion 17803354
esv1449608 CNV Insertion 17803354
esv2715258 CNV Deletion 23290073
esv2715259 CNV Deletion 23290073
nsv827849 CNV Gain 20364138
esv2715260 CNV Deletion 23290073
esv1009337 CNV Deletion 20482838
esv2715261 CNV Deletion 23290073
esv1535633 CNV Deletion 17803354
dgv426e201 CNV Deletion 23290073
dgv427e201 CNV Deletion 23290073
esv33635 CNV Gain 17666407
esv5092 CNV Deletion 18987735
esv2397778 CNV Deletion 18987734
esv2715268 CNV Deletion 23290073
esv2715269 CNV Deletion 23290073
esv2664187 CNV Deletion 23128226
esv2715270 CNV Deletion 23290073
esv2715271 CNV Deletion 23290073
esv2715272 CNV Deletion 23290073
esv1000357 CNV Deletion 20482838
esv1355549 CNV Deletion 17803354
esv999394 CNV Deletion 20482838
esv2715273 CNV Deletion 23290073
esv1650535 CNV Insertion 17803354
nsv827850 CNV Loss 20364138
esv2715275 CNV Deletion 23290073
esv2183072 CNV Deletion 18987734
nsv820496 CNV Deletion 20802225
esv2715276 CNV Deletion 23290073
esv29007 CNV Gain+Loss 19812545
esv2660341 CNV Deletion 23128226
esv2669128 CNV Deletion 23128226
esv1673020 CNV Deletion 17803354
dgv520e199 CNV Deletion 23128226
nsv827851 CNV Loss 20364138
esv33596 CNV Loss 17666407
esv2715277 CNV Deletion 23290073
esv2715278 CNV Deletion 23290073

Variation tolerance for RPH3AL Gene

Residual Variation Intolerance Score: 84.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPH3AL Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPH3AL Gene

Disorders for RPH3AL Gene

MalaCards: The human disease database

(1) MalaCards diseases for RPH3AL Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
  • medulloblastoma, desmoplastic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RPH3AL

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with RPH3AL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RPH3AL Gene

Publications for RPH3AL Gene

  1. Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus. (PMID: 10395805) Smith J.S. … Raffel C. (Genomics 1999) 2 3 4 67
  2. Immunohistochemical expression of rabphilin-3A-like (Noc2) in normal and tumor tissues of human endocrine pancreas. (PMID: 19212825) Shanmugam C. … Manne U. (Biotech Histochem 2009) 3 23
  3. Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma. (PMID: 17981610) Katkoori V.R. … Manne U. (Front. Biosci. 2008) 3 23
  4. Identification and characterization of Noc2 as a potential Rab3B effector protein in epithelial cells. (PMID: 15003533) Manabe S. … Sasaki T. (Biochem. Biophys. Res. Commun. 2004) 3 23
  5. Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2. (PMID: 12578829) Fukuda M. (J. Biol. Chem. 2003) 3 23

Products for RPH3AL Gene

Sources for RPH3AL Gene