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

    Gene ID: 57414, updated on 19-Sep-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    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.

    Genomic

    1. NG_051655.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001040456.3NP_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:54205
      Rhomboid; Rhomboid family
      pfam06583
      Location:242341
      Neogenin_C; Neogenin C-terminus
    2. NM_001040457.3NP_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:164
      Rhomboid; Rhomboid family
    3. NM_001346186.2NP_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:164
      Rhomboid; Rhomboid family
    4. NM_001346187.2NP_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:164
      Rhomboid; Rhomboid family
    5. NM_001346188.2NP_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_001346189.2NP_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_047420655.1XP_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_054358706.1XP_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.