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

Gene ID: 9501, updated on 5-Mar-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
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Genomic context

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Location:
17p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (212389..352807, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (117331..273178, complement)
105.20220307 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
  • 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. Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer. Putcha BD, et al. PLoS One, 2015. PMID 26070152, Free PMC Article
  2. 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
  3. 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
  4. Mutations of rabphillin-3A-like gene in colorectal cancers. Goi T, et al. Oncol Rep, 2002 Nov-Dec. PMID 12375017
  5. 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

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 exocytosis 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 insulin secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of calcium ion-dependent exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spontaneous neurotransmitter secretion IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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

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