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    RHBDD2 rhomboid domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 57414, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RHBDD2provided by HGNC
    Official Full Name
    rhomboid domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:23082
    See related
    Ensembl:ENSG00000005486 MIM:615203; AllianceGenome:HGNC:23082
    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
    NPD007; RHBDL7
    Summary
    The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in brain (RPKM 72.8), adrenal (RPKM 57.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RHBDD2 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75879034..75888926)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77166165..77176057)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75508352..75518244)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75452889-75453389 Neighboring gene C-C motif chemokine ligand 24 Neighboring gene THO complex 4 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26182 Neighboring gene Sharpr-MPRA regulatory region 1050 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75508048-75508656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75528271-75528780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75535657-75536227 Neighboring gene uncharacterized LOC124901680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18302 Neighboring gene microRNA 4651 Neighboring gene cytochrome p450 oxidoreductase

    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. Alternative splicing variant of RHBDD2 is associated with cell stress response and breast cancer progression. Canzoneri R, et al. Oncol Rep, 2018 Aug. PMID 29901166
    2. RHBDD2 overexpression promotes a chemoresistant and invasive phenotype to rectal cancer tumors via modulating UPR and focal adhesion genes. Palma S, et al. Biochim Biophys Acta Mol Basis Dis, 2020 Aug 1. PMID 32339641
    3. Rhomboid domain containing 2 (RHBDD2): a novel cancer-related gene over-expressed in breast cancer. Abba MC, et al. Biochim Biophys Acta, 2009 Oct. PMID 19616622, Free PMC Article
    4. RHBDD2: a 5-fluorouracil responsive gene overexpressed in the advanced stages of colorectal cancer. Lacunza E, et al. Tumour Biol, 2012 Dec. PMID 22965880
    5. Identification of signaling pathways modulated by RHBDD2 in breast cancer cells: a link to the unfolded protein response. Lacunza E, et al. Cell Stress Chaperones, 2014 May. PMID 24078384, Free PMC Article

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RHBDD2WWOX protein interaction during proliferative and differentiated stages in normal and breast cancer cells.
      Title: RHBDD2‑WWOX protein interaction during proliferative and differentiated stages in normal and breast cancer cells.
    2. RHBDD2 overexpression promotes a chemoresistant and invasive phenotype to rectal cancer tumors via modulating UPR and focal adhesion genes.
      Title: RHBDD2 overexpression promotes a chemoresistant and invasive phenotype to rectal cancer tumors via modulating UPR and focal adhesion genes.
    3. The RHBDD2 subcellular localization was corroborated at the Golgi apparatus.
      Title: Alternative splicing variant of RHBDD2 is associated with cell stress response and breast cancer progression.
    4. RHBDD2 overexpression in breast cancer could represent an adaptive phenotype to the stressful tumor microenvironment by modulating the endoplasmic reticulum stress response.
      Title: Identification of signaling pathways modulated by RHBDD2 in breast cancer cells: a link to the unfolded protein response.
    5. Quantitative reverse transcription-polymerase chain reaction (RT-PCR) analysis showed a significant RHBDD2 mRNA overexpression in advanced breast cancer compared with normal tissue samples (p = 0.012).
      Title: Rhomboid family gene expression profiling in breast normal tissue and tumor samples.
    6. RHBDD2 protein plays important roles in the development and normal function of the retina
      Title: Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa.
    7. Increased RHBDD2 expression in response to the chemotherapy is associated with advanced stages of colorectal cancer.
      Title: RHBDD2: a 5-fluorouracil responsive gene overexpressed in the advanced stages of colorectal cancer.
    8. RHBDD2 over-expression behaves as an indicator of poor prognosis and may play a role facilitating breast cancer progression.
      Title: Rhomboid domain containing 2 (RHBDD2): a novel cancer-related gene over-expressed in breast cancer.
    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

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables signal recognition particle binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum unfolded protein response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rhomboid domain-containing protein 2
    Names
    rhomboid, veinlet-like 7

    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_051655.2 RefSeqGene

      Range
      5002..14894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040456.3 → NP_001035546.1  rhomboid domain-containing protein 2 isoform a

      See identical proteins and their annotated locations for NP_001035546.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC005067
      Consensus CDS
      CCDS43602.1
      UniProtKB/Swiss-Prot
      Q6NTF9, Q7L534, Q9H5W6, Q9HBK7, Q9UDT2
      Related
      ENSP00000006777.6, ENST00000006777.11
      Conserved Domains (2) summary
      pfam01694
      Location:54 → 205
      Rhomboid; Rhomboid family
      pfam06583
      Location:242 → 341
      Neogenin_C; Neogenin C-terminus

    2. NM_001040457.3 → NP_001035547.1  rhomboid domain-containing protein 2 isoform b

      See identical proteins and their annotated locations for NP_001035547.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate exon in the 5' end compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (b) with a shorter N-terminus, compared to isoform a. Variants 2-4 all encode the same isoform (b).
      Source sequence(s)
      AC005067
      Consensus CDS
      CCDS43603.1
      UniProtKB/Swiss-Prot
      Q6NTF9
      Related
      ENSP00000314144.4, ENST00000318622.8
      Conserved Domains (1) summary
      cl21536
      Location:1 → 64
      Rhomboid; Rhomboid family

    3. NM_001346186.2 → NP_001333115.1  rhomboid domain-containing protein 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has two alternate exons in the 5' end compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (b) with a shorter N-terminus, compared to isoform a. Variants 2-4 all encode the same isoform (b).
      Source sequence(s)
      AC005067
      Consensus CDS
      CCDS43603.1
      UniProtKB/Swiss-Prot
      Q6NTF9
      Conserved Domains (1) summary
      cl21536
      Location:1 → 64
      Rhomboid; Rhomboid family

    4. NM_001346187.2 → NP_001333116.1  rhomboid domain-containing protein 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction in the 5' end compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (b) with a shorter N-terminus, compared to isoform a. Variants 2-4 all encode the same isoform (b).
      Source sequence(s)
      AC005067
      Consensus CDS
      CCDS43603.1
      UniProtKB/Swiss-Prot
      Q6NTF9
      Related
      ENSP00000391232.1, ENST00000428119.1
      Conserved Domains (1) summary
      cl21536
      Location:1 → 64
      Rhomboid; Rhomboid family

    5. NM_001346188.2 → NP_001333117.1  rhomboid domain-containing protein 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compare to isoform a.
      Source sequence(s)
      AC005067
      UniProtKB/Swiss-Prot
      Q6NTF9

    6. NM_001346189.2 → NP_001333118.1  rhomboid domain-containing protein 2 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC005067

    RNA

    1. NR_144390.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an alternate exon, lacks another alternate exon, and uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC005067

    2. NR_144391.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) contains an alternate exon and lacks two other alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC005067, CF128386

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      75879034..75888926
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420655.1 → XP_047276611.1  rhomboid domain-containing protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      77166165..77176057
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358706.1 → XP_054214681.1  rhomboid domain-containing protein 2 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020684.2: Suppressed sequence

      Description
      NM_020684.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NTF9.2 GenPept UniProtKB/Swiss-Prot:Q6NTF9

    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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