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    RHBDF2 rhomboid 5 homolog 2 [ Homo sapiens (human) ]

    Gene ID: 79651, updated on 16-Apr-2024

    Summary

    Official Symbol
    RHBDF2provided by HGNC
    Official Full Name
    rhomboid 5 homolog 2provided by HGNC
    Primary source
    HGNC:HGNC:20788
    See related
    Ensembl:ENSG00000129667 MIM:614404; AllianceGenome:HGNC:20788
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TOC; TOCG; RHBDL5; RHBDL6; iRhom2
    Summary
    Predicted to enable protein transporter activity. Predicted to be involved in negative regulation of protein secretion and regulation of epidermal growth factor receptor signaling pathway. Located in plasma membrane. Implicated in palmoplantar keratoderma-esophageal carcinoma syndrome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in spleen (RPKM 8.7), appendix (RPKM 7.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RHBDF2 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76470893..76501427, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77367469..77398038, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74466975..74497509, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 O Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74429943-74430443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74432809-74433310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74437133-74437650 Neighboring gene ribosomal protein L7 pseudogene 49 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12807 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74449240-74449408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12808 Neighboring gene aralkylamine N-acetyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74469380-74469890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9020 Neighboring gene Sharpr-MPRA regulatory region 10531 Neighboring gene MPRA-validated peak3008 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74487839-74488704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74496763-74497432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12809 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74506318-74506528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74508911-74509513 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74518115-74518272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74525989-74526722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74526723-74527456 Neighboring gene cytoglobin Neighboring gene photoreceptor disc component Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74543392-74543895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12811 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74553466-74554266 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74554267-74555068 Neighboring gene small nucleolar RNA, C/D box 1C Neighboring gene small nucleolar RNA host gene 16

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22341

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein transporter activity TAS
    Traceable Author Statement
    more info
     
    NOT enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in negative regulation of inflammatory response to antigenic stimulus TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of protein secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    inactive rhomboid protein 2
    Names
    rhomboid family member 2
    rhomboid veinlet-like protein 5
    rhomboid veinlet-like protein 6

    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_032852.1 RefSeqGene

      Range
      5001..35535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_532

    mRNA and Protein(s)

    1. NM_001005498.4NP_001005498.2  inactive rhomboid protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001005498.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate, in frame splice site in the 5' coding region compared to isoform 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC015802
      Consensus CDS
      CCDS32744.1
      UniProtKB/Swiss-Prot
      Q6PJF5
      Related
      ENSP00000501790.1, ENST00000675367.1
      Conserved Domains (3) summary
      pfam01694
      Location:622762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716812
      ECF_trnsprt; ECF transporter, substrate-specific component
    2. NM_001376228.1NP_001363157.1  inactive rhomboid protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC015802
      Consensus CDS
      CCDS32744.1
      Conserved Domains (3) summary
      pfam01694
      Location:622762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716812
      ECF_trnsprt; ECF transporter, substrate-specific component
    3. NM_001376229.1NP_001363158.1  inactive rhomboid protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC015802
      Consensus CDS
      CCDS32744.1
      Conserved Domains (3) summary
      pfam01694
      Location:622762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716812
      ECF_trnsprt; ECF transporter, substrate-specific component
    4. NM_001376230.1NP_001363159.1  inactive rhomboid protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC015802
      Consensus CDS
      CCDS32744.1
      Conserved Domains (3) summary
      pfam01694
      Location:622762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716812
      ECF_trnsprt; ECF transporter, substrate-specific component
    5. NM_024599.5NP_078875.4  inactive rhomboid protein 2 isoform 1

      See identical proteins and their annotated locations for NP_078875.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC015802, AK292135, AL833680, BC035829, DC337840, DC348660
      Consensus CDS
      CCDS32743.1
      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9
      Related
      ENSP00000322775.3, ENST00000313080.8
      Conserved Domains (3) summary
      pfam01694
      Location:648789
      Rhomboid; Rhomboid family
      pfam12595
      Location:128334
      Rhomboid_SP; Rhomboid serine protease
      cl19823
      Location:748832
      GtrA; GtrA-like protein

    RNA

    1. NR_164785.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC015802
    2. NR_164786.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC015802
    3. NR_164787.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC015802

    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
      76470893..76501427 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525251.3XP_011523553.1  inactive rhomboid protein 2 isoform X2

      See identical proteins and their annotated locations for XP_011523553.1

      UniProtKB/Swiss-Prot
      Q6PJF5
      Conserved Domains (3) summary
      pfam01694
      Location:622762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716812
      ECF_trnsprt; ECF transporter, substrate-specific component
    2. XM_047436744.1XP_047292700.1  inactive rhomboid protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9
    3. XM_011525250.3XP_011523552.1  inactive rhomboid protein 2 isoform X2

      See identical proteins and their annotated locations for XP_011523552.1

      UniProtKB/Swiss-Prot
      Q6PJF5
      Conserved Domains (3) summary
      pfam01694
      Location:622762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716812
      ECF_trnsprt; ECF transporter, substrate-specific component
    4. XM_047436745.1XP_047292701.1  inactive rhomboid protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9
    5. XM_047436752.1XP_047292708.1  inactive rhomboid protein 2 isoform X2

    6. XM_047436747.1XP_047292703.1  inactive rhomboid protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9
    7. XM_005257669.4XP_005257726.1  inactive rhomboid protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005257726.1

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9
      Conserved Domains (3) summary
      pfam01694
      Location:648789
      Rhomboid; Rhomboid family
      pfam12595
      Location:128334
      Rhomboid_SP; Rhomboid serine protease
      cl19823
      Location:748832
      GtrA; GtrA-like protein
    8. XM_047436751.1XP_047292707.1  inactive rhomboid protein 2 isoform X2

    9. XM_047436746.1XP_047292702.1  inactive rhomboid protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9
    10. XM_047436755.1XP_047292711.1  inactive rhomboid protein 2 isoform X2

    11. XM_047436743.1XP_047292699.1  inactive rhomboid protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9
    12. XM_047436756.1XP_047292712.1  inactive rhomboid protein 2 isoform X2

    13. XM_047436750.1XP_047292706.1  inactive rhomboid protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9
    14. XM_011525249.3XP_011523551.1  inactive rhomboid protein 2 isoform X2

      See identical proteins and their annotated locations for XP_011523551.1

      UniProtKB/Swiss-Prot
      Q6PJF5
      Conserved Domains (3) summary
      pfam01694
      Location:622762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716812
      ECF_trnsprt; ECF transporter, substrate-specific component
    15. XM_047436749.1XP_047292705.1  inactive rhomboid protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9
    16. XM_047436753.1XP_047292709.1  inactive rhomboid protein 2 isoform X2

    17. XM_047436748.1XP_047292704.1  inactive rhomboid protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9
    18. XM_047436757.1XP_047292713.1  inactive rhomboid protein 2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      77367469..77398038 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317223.1XP_054173198.1  inactive rhomboid protein 2 isoform X2

    2. XM_054317224.1XP_054173199.1  inactive rhomboid protein 2 isoform X2

    3. XM_054317222.1XP_054173197.1  inactive rhomboid protein 2 isoform X2

    4. XM_054317210.1XP_054173185.1  inactive rhomboid protein 2 isoform X1

    5. XM_054317217.1XP_054173192.1  inactive rhomboid protein 2 isoform X2

    6. XM_054317211.1XP_054173186.1  inactive rhomboid protein 2 isoform X1

    7. XM_054317220.1XP_054173195.1  inactive rhomboid protein 2 isoform X2

    8. XM_054317214.1XP_054173189.1  inactive rhomboid protein 2 isoform X1

    9. XM_054317213.1XP_054173188.1  inactive rhomboid protein 2 isoform X1

    10. XM_054317219.1XP_054173194.1  inactive rhomboid protein 2 isoform X2

    11. XM_054317212.1XP_054173187.1  inactive rhomboid protein 2 isoform X1

    12. XM_054317209.1XP_054173184.1  inactive rhomboid protein 2 isoform X1

    13. XM_054317218.1XP_054173193.1  inactive rhomboid protein 2 isoform X2

    14. XM_054317216.1XP_054173191.1  inactive rhomboid protein 2 isoform X1

    15. XM_054317221.1XP_054173196.1  inactive rhomboid protein 2 isoform X2

    16. XM_054317215.1XP_054173190.1  inactive rhomboid protein 2 isoform X1

    17. XM_054317225.1XP_054173200.1  inactive rhomboid protein 2 isoform X3