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    RPH3AL rabphilin 3A like (without C2 domains) [ Homo sapiens (human) ]

    Gene ID: 9501, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RPH3ALprovided by HGNC
    Official Full Name
    rabphilin 3A like (without C2 domains)provided by HGNC
    Primary source
    HGNC:HGNC:10296
    See related
    Ensembl:ENSG00000181031 MIM:604881; AllianceGenome:HGNC:10296
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NOC2
    Summary
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 3.5), thyroid (RPKM 2.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RPH3AL in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (212389..352807, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (117331..273178, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62180..202598, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2091 Neighboring gene uncharacterized LOC124903889 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47292 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:69190-69690 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:69691-70191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77137-77637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77764-78286 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:94284-94482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:136075-136596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:150673-151173 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:151415-152185 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:152186-152955 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:160317-161015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:161016-161713 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr17:164601-165116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:165117-165633 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:165634-166149 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:166152-166652 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:166653-167153 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:180576-181156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:181157-181735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:183692-184468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:184469-185243 Neighboring gene Sharpr-MPRA regulatory region 15212 Neighboring gene uncharacterized LOC105371425 Neighboring gene Sharpr-MPRA regulatory region 2375 Neighboring gene RPH3AL antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:216819-218018 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:252557-253756 Neighboring gene uncharacterized LOC105371430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11437 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:276928-277621 Neighboring gene ligand of ATE1 Neighboring gene refilin B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus. Smith JS, et al. Genomics, 1999 Jul 1. PMID 10395805
    2. Identification and characterization of Noc2 as a potential Rab3B effector protein in epithelial cells. Manabe S, et al. Biochem Biophys Res Commun, 2004 Mar 26. PMID 15003533
    3. Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer. Putcha BD, et al. PLoS One, 2015. PMID 26070152, Free PMC Article
    4. Mutations of rabphillin-3A-like gene in colorectal cancers. Goi T, et al. Oncol Rep, 2002 Nov-Dec. PMID 12375017
    5. Immunohistochemical expression of rabphilin-3A-like (Noc2) in normal and tumor tissues of human endocrine pancreas. Shanmugam C, et al. Biotech Histochem, 2009 Apr. PMID 19212825, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. genetic alterations in RPH3AL are associated with aggressive behavior of breast cancers and with short survival of patients.
      Title: Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma.
    4. Noc2 may function as a Rab3B effector protein in epithelial cells.
      Title: Identification and characterization of Noc2 as a potential Rab3B effector protein in epithelial cells.
    5. Mutations of rabphillin-3A-like gene is associated with colorectal cancers
      Title: Mutations of rabphillin-3A-like gene in colorectal cancers.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study implicates PARD3B-based AIDS restriction.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytoskeletal protein binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium-dependent activation of synaptic vesicle fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of calcium ion-dependent exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rab effector Noc2
    Names
    no C2 domains protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023031.1 RefSeqGene

      Range
      5036..145454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190411.2 → NP_001177340.1  rab effector Noc2 isoform 1

      See identical proteins and their annotated locations for NP_001177340.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AF129812, BC005153, BF507559, BP275333, BU197069, BU568991, DA378956
      Consensus CDS
      CCDS10994.1
      UniProtKB/Swiss-Prot
      D3DTG7, Q9BSB3, Q9UNE2
      UniProtKB/TrEMBL
      A8K7D5
      Related
      ENSP00000479485.1, ENST00000618002.4
      Conserved Domains (1) summary
      pfam02318
      Location:47 → 159
      FYVE_2; FYVE-type zinc finger

    2. NM_001190412.2 → NP_001177341.1  rab effector Noc2 isoform 2

      See identical proteins and their annotated locations for NP_001177341.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1, and encodes a shorter isoform (2) than isoform 1. Variants 3 and 4 encode the same isoform (2).
      Source sequence(s)
      AK291950, BC005153, BF507559, BP275333, BU568991
      Consensus CDS
      CCDS54059.1
      UniProtKB/TrEMBL
      A8K7D5
      Related
      ENSP00000319210.8, ENST00000323434.12
      Conserved Domains (1) summary
      cl22851
      Location:47 → 130
      PHD_SF; PHD finger superfamily

    3. NM_001190413.2 → NP_001177342.1  rab effector Noc2 isoform 2

      See identical proteins and their annotated locations for NP_001177342.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' UTR and an in-frame exon in the coding region, compared to variant 1, and encodes a shorter isoform (2) than isoform 1. Variants 3 and 4 encode the same isoform (2).
      Source sequence(s)
      AK291950, BC005153, BF507559, BP275333, BU568991, DA378956
      Consensus CDS
      CCDS54059.1
      UniProtKB/TrEMBL
      A8K7D5
      Related
      ENSP00000438224.2, ENST00000536489.6
      Conserved Domains (1) summary
      cl22851
      Location:47 → 130
      PHD_SF; PHD finger superfamily

    4. NM_006987.4 → NP_008918.1  rab effector Noc2 isoform 1

      See identical proteins and their annotated locations for NP_008918.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK000469, BC005153, BF507559, BP275333, BU568991, DA378956
      Consensus CDS
      CCDS10994.1
      UniProtKB/Swiss-Prot
      D3DTG7, Q9BSB3, Q9UNE2
      UniProtKB/TrEMBL
      A8K7D5
      Related
      ENSP00000328977.7, ENST00000331302.12
      Conserved Domains (1) summary
      pfam02318
      Location:47 → 159
      FYVE_2; FYVE-type zinc finger

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      212389..352807 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315952.3 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      157431..324250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187662.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      49831..131931
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      117331..273178 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UNE2.1 GenPept UniProtKB/Swiss-Prot:Q9UNE2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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