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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
  • Rab Effector Noc2 3

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F000215 0.4 ENCODE 48.3 +170.6 170623 0.4 MAZ GLIS2 SP3 POLR2A PATZ1 SCRT2 NR2C2 RPH3AL PIR39774 GC17M000176
GH17F000348 1 FANTOM5 Ensembl ENCODE 34.3 +34.5 34508 7.5 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 FOS RPH3AL ENSG00000262294 GEMIN4 LOC100506388 ENSG00000262558 LOC105371425
GH17F000226 0.2 ENCODE 14.3 +159.0 158963 1.6 RFX1 RPH3AL DOC2B FAM57A GC17M000217 LOC100996750
GH17F000232 0.6 ENCODE 10.4 +152.4 152449 2.4 SOX13 CTCF TFAP4 SAP130 MLX MAX THRB ZNF644 RAD21 RARA DOC2B FAM57A RPH3AL TIMM22 CCL3P1 LOC100996750
GH17F000198 1 Ensembl ENCODE 8.4 +186.4 186396 2.6 NFIA ZMYM3 USF2 RAD21 NR2F2 RAD51 ZNF341 ZNF600 KDM1A LINC02091 RFLNB RPH3AL GC17M000176 PIR39774
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001804170 454 1601 ARID4B ZNF48 RAD21 RARA GLIS2 SCRT2 EGR2 KLF11 SP5 MXD4

Genomic Location for RPH3AL Gene

Chromosome:
17
Start:
212,389 bp from pter
End:
386,254 bp from pter
Size:
173,866 bases
Orientation:
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:
    Q9UNE2-RPH3L_HUMAN
    Recommended name:
    Rab effector Noc2
    Protein Accession:
    Q9UNE2
    Secondary Accessions:
    • D3DTG7
    • Q9BSB3

    Protein attributes for RPH3AL Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for RPH3AL Gene

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

Q9UNE2

UniProtKB/Swiss-Prot:

RPH3L_HUMAN :
  • The N-terminus of the RabBD domain is necessary and sufficient for interaction with RAB27A.
  • Contains 1 FYVE-type zinc finger.
Domain:
  • The N-terminus of the RabBD domain is necessary and sufficient for interaction with RAB27A.
  • Contains 1 RabBD (Rab-binding) domain.
Similarity:
  • 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:0005544 NOT calcium-dependent phospholipid binding IBA --
GO:0008092 cytoskeletal protein binding TAS 9367993
GO:0017137 Rab GTPase 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

COMPARTMENTS
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:0005622 intracellular IEA --
GO:0005737 cytoplasm TAS 9367993
GO:0005886 plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0030141 secretory granule 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:0006886 intracellular protein transport IEA --
GO:0006887 exocytosis TAS 9367993
GO:0006906 vesicle fusion IBA --
GO:0017157 regulation of exocytosis IEA --
GO:0017158 NOT regulation of calcium ion-dependent exocytosis IBA --
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:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for RPH3AL Gene

GeneLoc Exon Structure for
RPH3AL
ECgene alternative splicing isoforms for
RPH3AL

Expression for RPH3AL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for RPH3AL Gene

NURSA nuclear receptor signaling pathways regulating expression of RPH3AL Gene:

RPH3AL

SOURCE GeneReport for Unigene cluster for RPH3AL Gene:

Hs.651925

mRNA Expression by UniProt/SwissProt for RPH3AL Gene:

Q9UNE2-RPH3L_HUMAN
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

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
chimpanzee
(Pan troglodytes)
Mammalia RPH3AL 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RPH3AL 34 35
  • 88.22 (n)
dog
(Canis familiaris)
Mammalia RPH3AL 34 35
  • 86.34 (n)
mouse
(Mus musculus)
Mammalia Rph3al 34 16 35
  • 85.05 (n)
rat
(Rattus norvegicus)
Mammalia Rph3al 34
  • 84.15 (n)
oppossum
(Monodelphis domestica)
Mammalia RPH3AL 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPH3AL 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPH3AL 34
  • 70.86 (n)
lizard
(Anolis carolinensis)
Reptilia RPH3AL 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rph3al 34
  • 64.79 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101884118 34
  • 68.99 (n)
rph3al 35
  • 68 (a)
OneToOne
Species where no ortholog for RPH3AL 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RPH3AL Gene

ENSEMBL:
Gene Tree for RPH3AL (if available)
TreeFam:
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
rs10163508 -- 270,425(+) GCTGC(A/G)GAGTT intron-variant
rs10438821 -- 372,900(+) AGGTA(A/G)AGAAA intron-variant
rs10454094 -- 261,432(+) CCGAA(A/T)TCACC intron-variant, utr-variant-3-prime
rs10566773 -- 216,420(+) AGAGA(-/GAGA)TGTTG intron-variant
rs10578983 -- 338,457(+) GTCTC(-/AAA)AAAAA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1391n106 CNV deletion 24896259
dgv1392n106 CNV deletion 24896259
dgv1670e59 CNV duplication 20981092
dgv1671e59 CNV duplication 20981092
dgv1672e59 CNV duplication 20981092
dgv1673e59 CNV duplication 20981092
dgv26n47 CNV gain 21111241
dgv3068n100 CNV gain 25217958
dgv3069n100 CNV gain 25217958
dgv3070n100 CNV gain 25217958
dgv3071n100 CNV gain 25217958
dgv388e201 CNV deletion 23290073
dgv389e201 CNV deletion 23290073
dgv390e201 CNV deletion 23290073
dgv519e199 CNV deletion 23128226
dgv520e199 CNV deletion 23128226
dgv5364n54 CNV loss 21841781
dgv5365n54 CNV loss 21841781
dgv5366n54 CNV gain+loss 21841781
dgv5367n54 CNV loss 21841781
dgv5368n54 CNV loss 21841781
dgv5369n54 CNV gain 21841781
dgv5370n54 CNV loss 21841781
dgv5371n54 CNV gain 21841781
dgv5372n54 CNV loss 21841781
dgv5373n54 CNV gain 21841781
dgv5374n54 CNV gain 21841781
dgv5375n54 CNV loss 21841781
dgv5376n54 CNV loss 21841781
dgv5377n54 CNV loss 21841781
dgv5378n54 CNV gain 21841781
dgv5379n54 CNV gain+loss 21841781
dgv5380n54 CNV loss 21841781
dgv5381n54 CNV loss 21841781
esv1000357 CNV deletion 20482838
esv1001313 CNV gain 20482838
esv1004648 CNV deletion 20482838
esv1006300 CNV loss 20482838
esv1009337 CNV deletion 20482838
esv1009420 CNV insertion 20482838
esv1010573 CNV insertion 20482838
esv1074806 CNV deletion 17803354
esv1146785 CNV insertion 17803354
esv1238030 CNV deletion 17803354
esv1355549 CNV deletion 17803354
esv1449608 CNV insertion 17803354
esv1474742 CNV deletion 17803354
esv1506917 CNV insertion 17803354
esv1535633 CNV deletion 17803354
esv1555814 CNV deletion 17803354
esv1599430 CNV insertion 17803354
esv1606158 CNV insertion 17803354
esv1621302 CNV deletion 17803354
esv1650535 CNV insertion 17803354
esv1654041 CNV insertion 17803354
esv1668100 CNV insertion 17803354
esv1673020 CNV deletion 17803354
esv2016708 CNV deletion 18987734
esv2053131 CNV deletion 18987734
esv2124579 CNV deletion 18987734
esv2166716 CNV deletion 18987734
esv2172937 CNV deletion 18987734
esv2183072 CNV deletion 18987734
esv22207 CNV gain+loss 19812545
esv22684 CNV gain 19812545
esv23514 CNV gain 19812545
esv23927 CNV loss 19812545
esv2397778 CNV deletion 18987734
esv2422420 CNV duplication 17116639
esv24406 CNV loss 19812545
esv2479428 CNV insertion 19546169
esv25221 CNV gain+loss 19812545
esv25469 CNV loss 19812545
esv25604 CNV gain 19812545
esv2613198 CNV deletion 19546169
esv2627504 CNV deletion 19546169
esv2657429 CNV deletion 23128226
esv2660341 CNV deletion 23128226
esv2664187 CNV deletion 23128226
esv2669128 CNV deletion 23128226
esv2675060 CNV deletion 23128226
esv2676984 CNV deletion 23128226
esv2715210 CNV deletion 23290073
esv2715211 CNV deletion 23290073
esv2715212 CNV deletion 23290073
esv2715213 CNV deletion 23290073
esv2715214 CNV deletion 23290073
esv2715215 CNV deletion 23290073
esv2715216 CNV deletion 23290073
esv2715217 CNV deletion 23290073
esv2715219 CNV deletion 23290073
esv2715220 CNV deletion 23290073
esv2715221 CNV deletion 23290073
esv2715222 CNV deletion 23290073
esv2715223 CNV deletion 23290073
esv2715224 CNV deletion 23290073
esv2715225 CNV deletion 23290073
esv2715226 CNV deletion 23290073
esv2715227 CNV deletion 23290073
esv2715228 CNV deletion 23290073
esv2715230 CNV deletion 23290073
esv2715231 CNV deletion 23290073
esv2715232 CNV deletion 23290073
esv2715233 CNV deletion 23290073
esv2715234 CNV deletion 23290073
esv2715235 CNV deletion 23290073
esv2715236 CNV deletion 23290073
esv2715237 CNV deletion 23290073
esv2715238 CNV deletion 23290073
esv2715239 CNV deletion 23290073
esv2715241 CNV deletion 23290073
esv2715242 CNV deletion 23290073
esv2715244 CNV deletion 23290073
esv2715246 CNV deletion 23290073
esv2715247 CNV deletion 23290073
esv2715249 CNV deletion 23290073
esv2715250 CNV deletion 23290073
esv2715253 CNV deletion 23290073
esv2715254 CNV deletion 23290073
esv2715255 CNV deletion 23290073
esv2715256 CNV deletion 23290073
esv2715257 CNV deletion 23290073
esv2715258 CNV deletion 23290073
esv2715259 CNV deletion 23290073
esv2715260 CNV deletion 23290073
esv2715261 CNV deletion 23290073
esv2715268 CNV deletion 23290073
esv2715269 CNV deletion 23290073
esv2715270 CNV deletion 23290073
esv2715271 CNV deletion 23290073
esv2715272 CNV deletion 23290073
esv2715273 CNV deletion 23290073
esv2715275 CNV deletion 23290073
esv2715276 CNV deletion 23290073
esv2715277 CNV deletion 23290073
esv2715278 CNV deletion 23290073
esv2741771 CNV deletion 23290073
esv27547 CNV gain 19812545
esv2761938 CNV gain 21179565
esv2763150 CNV loss 21179565
esv28817 CNV gain+loss 19812545
esv29007 CNV gain+loss 19812545
esv3102 CNV loss 18987735
esv3177124 CNV deletion 24192839
esv3178235 CNV deletion 24192839
esv3203276 CNV deletion 24192839
esv3307262 CNV mobile element insertion 20981092
esv3333503 CNV duplication 20981092
esv3340820 CNV duplication 20981092
esv3352232 CNV duplication 20981092
esv33596 CNV loss 17666407
esv3362185 CNV duplication 20981092
esv33635 CNV gain 17666407
esv3365502 CNV duplication 20981092
esv3376989 CNV duplication 20981092
esv3382605 CNV duplication 20981092
esv3417899 CNV duplication 20981092
esv3419495 CNV duplication 20981092
esv3423671 CNV duplication 20981092
esv3424925 CNV insertion 20981092
esv3449863 CNV duplication 20981092
esv3451569 CNV duplication 20981092
esv3553930 CNV deletion 23714750
esv3553931 CNV deletion 23714750
esv3553934 CNV deletion 23714750
esv3553937 CNV deletion 23714750
esv3553939 CNV deletion 23714750
esv3553940 CNV deletion 23714750
esv3582453 CNV loss 25503493
esv3639614 CNV gain 21293372
esv3639615 CNV gain 21293372
esv3639617 CNV gain 21293372
esv3639618 CNV gain 21293372
esv3639619 CNV loss 21293372
esv3639620 CNV loss 21293372
esv3892942 CNV loss 25118596
esv3892945 CNV gain 25118596
esv5092 CNV loss 18987735
esv991715 CNV gain 20482838
esv994991 CNV deletion 20482838
esv999265 CNV deletion 20482838
esv999394 CNV deletion 20482838
nsv1056138 CNV loss 25217958
nsv1057837 CNV loss 25217958
nsv1064439 CNV gain 25217958
nsv1065720 CNV loss 25217958
nsv1070373 CNV deletion 25765185
nsv1071319 CNV deletion 25765185
nsv1071320 CNV deletion 25765185
nsv1071354 CNV deletion 25765185
nsv1078408 CNV duplication 25765185
nsv1078409 CNV duplication 25765185
nsv1110708 CNV insertion 24896259
nsv1113835 CNV deletion 24896259
nsv1116175 CNV deletion 24896259
nsv1119454 CNV insertion 24896259
nsv112249 CNV deletion 16902084
nsv1123086 CNV deletion 24896259
nsv1124747 CNV duplication 24896259
nsv112500 CNV deletion 16902084
nsv1125199 CNV insertion 24896259
nsv1127527 CNV deletion 24896259
nsv1129585 CNV tandem duplication 24896259
nsv1132445 CNV duplication 24896259
nsv1133226 CNV tandem duplication 24896259
nsv1138488 CNV deletion 24896259
nsv1141752 CNV deletion 24896259
nsv1142210 CNV tandem duplication 24896259
nsv1146347 CNV deletion 26484159
nsv1147525 CNV deletion 26484159
nsv1148478 CNV duplication 26484159
nsv1149513 CNV deletion 26484159
nsv1150525 CNV duplication 26484159
nsv1153767 CNV insertion 26484159
nsv1153962 CNV deletion 26484159
nsv1936 CNV insertion 18451855
nsv1937 CNV insertion 18451855
nsv1938 CNV insertion 18451855
nsv457627 CNV gain 19166990
nsv457628 CNV loss 19166990
nsv469538 CNV loss 16826518
nsv470565 CNV loss 18288195
nsv473244 CNV novel sequence insertion 20440878
nsv499514 CNV gain 21111241
nsv509642 CNV insertion 20534489
nsv512459 CNV loss 21212237
nsv512460 CNV loss 21212237
nsv514824 CNV gain 21397061
nsv519390 CNV gain+loss 19592680
nsv573933 CNV gain 21841781
nsv573947 CNV gain 21841781
nsv573948 CNV gain 21841781
nsv573949 CNV loss 21841781
nsv573950 CNV loss 21841781
nsv573951 CNV loss 21841781
nsv573952 CNV loss 21841781
nsv573953 CNV loss 21841781
nsv573954 CNV loss 21841781
nsv573955 CNV loss 21841781
nsv573958 CNV loss 21841781
nsv573962 CNV loss 21841781
nsv573963 CNV loss 21841781
nsv573964 CNV loss 21841781
nsv573974 CNV gain+loss 21841781
nsv573998 CNV gain+loss 21841781
nsv574008 CNV gain 21841781
nsv574022 CNV gain 21841781
nsv574024 CNV loss 21841781
nsv574029 CNV gain 21841781
nsv574033 CNV loss 21841781
nsv820416 CNV duplication 20802225
nsv820496 CNV deletion 20802225
nsv820771 CNV deletion 20802225
nsv820865 CNV deletion 20802225
nsv821266 CNV deletion 20802225
nsv821350 CNV duplication 20802225
nsv821580 CNV deletion 20802225
nsv827848 CNV gain 20364138
nsv827849 CNV gain 20364138
nsv827850 CNV loss 20364138
nsv827851 CNV loss 20364138
nsv952087 CNV deletion 24416366
nsv952089 CNV deletion 24416366
nsv952090 CNV deletion 24416366
nsv954589 CNV deletion 24416366
nsv954921 CNV deletion 24416366

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)
RPH3AL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPH3AL

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
  • medulloblastoma, desmoplastic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RPH3AL

Genetic Association Database (GAD)
RPH3AL
Human Genome Epidemiology (HuGE) Navigator
RPH3AL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPH3AL
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. 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 22 46 64
  2. 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 4 22 64
  3. 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 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. 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 22 64

Products for RPH3AL Gene

Sources for RPH3AL Gene

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