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    RHPN2 rhophilin Rho GTPase binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 85415, updated on 10-Dec-2024

    Summary

    Official Symbol
    RHPN2provided by HGNC
    Official Full Name
    rhophilin Rho GTPase binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:19974
    See related
    Ensembl:ENSG00000131941 MIM:617932; AllianceGenome:HGNC:19974
    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
    RHOBP; P76RBE
    Summary
    This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]
    Expression
    Broad expression in colon (RPKM 18.4), prostate (RPKM 16.3) and 16 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RHPN2 in Genome Data Viewer
    Location:
    19q13.11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (32978592..33064888, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (35497266..35583576, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33469498..33555794, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene centrosomal protein 89 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14436 Neighboring gene ribosomal protein L31 pseudogene 60 Neighboring gene FA core complex associated protein 24 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33522974-33523845 Neighboring gene HNF1 motif-containing MPRA enhancer 165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33532539-33533040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33534226-33534776 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:33539186-33539904 Neighboring gene uncharacterized LOC124904805 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33545753-33546253 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33547387-33547910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33547911-33548434 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33554488-33555116 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10489 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:33556329-33556828 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51002 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14437 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33573947-33574447 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51021 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51032 Neighboring gene G-patch domain containing 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51043 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51054 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51091 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:33619955-33620099 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14439 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51125 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51126 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51137 Neighboring gene uncharacterized LOC124904691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14440 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51151 Neighboring gene WD repeat domain 88

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
    EBI GWAS Catalog
    Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    rhophilin-2
    Names
    76 kDa RhoB effector protein
    GTP-Rho-binding protein 2
    rhophilin-like Rho-GTPase binding protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_033103.5NP_149094.3  rhophilin-2

      See identical proteins and their annotated locations for NP_149094.3

      Status: REVIEWED

      Source sequence(s)
      AC011449, AJ347750, BC036447, DC348657
      Consensus CDS
      CCDS12427.1
      UniProtKB/Swiss-Prot
      A8MT19, B2RCG8, B3KUY8, B4DUS7, Q8IUC4, Q8N3T7, Q8N9D6, Q8NE33, Q96RU1
      Related
      ENSP00000254260.2, ENST00000254260.8
      Conserved Domains (3) summary
      cd09249
      Location:112496
      BRO1_Rhophilin_2; Protein-interacting Bro1-like domain of RhoA-binding protein Rhophilin-2
      cd11634
      Location:27108
      HR1_Rhophilin-2; Protein kinase C-related kinase homology region 1 (HR1) Rho-binding domain of Rhophilin-2
      cd00992
      Location:514591
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      32978592..33064888 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      35497266..35583576 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)