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

    Gene ID: 79651, updated on 10-Dec-2024

    Summary

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    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. Predicted to act upstream of or within protein localization to plasma membrane and regulation of metalloendopeptidase activity. Located in plasma membrane. Implicated in palmoplantar keratoderma-esophageal carcinoma syndrome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in spleen (RPKM 8.7), appendix (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RHBDF2 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76470893..76501427, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77367469..77398038, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. iRhom2 regulates ERBB signalling to promote KRAS-driven tumour growth of lung cancer cells. Sieber B, et al. J Cell Sci, 2022 Sep 1. PMID 35971826, Free PMC Article
    2. The Threshold Effect: Lipopolysaccharide-Induced Inflammatory Responses in Primary Macrophages Are Differentially Regulated in an iRhom2-Dependent Manner. Skurski J, et al. Front Cell Infect Microbiol, 2020. PMID 33585287, Free PMC Article
    3. iRhom2 in the pathogenesis of oral squamous cell carcinoma. Agwae ME, et al. Mol Biol Rep, 2020 May. PMID 32236893, Free PMC Article
    4. The molecular, cellular and pathophysiological roles of iRhom pseudoproteases. Dulloo I, et al. Open Biol, 2019 Mar 29. PMID 30890028, Free PMC Article
    5. The prognostic value of RHBDF2 in Pan-Cancer, and its correlation with cell Adhesion of Hepatocellular Carcinoma. Gong H, et al. Biotechnol Genet Eng Rev, 2024 Oct. PMID 36943153

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The prognostic value of RHBDF2 in Pan-Cancer, and its correlation with cell Adhesion of Hepatocellular Carcinoma.
      Title: The prognostic value of RHBDF2 in Pan-Cancer, and its correlation with cell Adhesion of Hepatocellular Carcinoma.
    2. Cryo-EM reveals that iRhom2 restrains ADAM17 protease activity to control the release of growth factor and inflammatory signals.
      Title: Cryo-EM reveals that iRhom2 restrains ADAM17 protease activity to control the release of growth factor and inflammatory signals.
    3. iRhom2 regulates ectodomain shedding and surface expression of the major histocompatibility complex (MHC) class I.
      Title: iRhom2 regulates ectodomain shedding and surface expression of the major histocompatibility complex (MHC) class I.
    4. Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway.
      Title: Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway.
    5. Palmitoyltransferase ZDHHC3 Aggravates Nonalcoholic Steatohepatitis by Targeting S-Palmitoylated IRHOM2.
      Title: Palmitoyltransferase ZDHHC3 Aggravates Nonalcoholic Steatohepatitis by Targeting S-Palmitoylated IRHOM2.
    6. EGFR stimulation enables IL-6 trans-signalling via iRhom2-dependent ADAM17 activation in mammary epithelial cells.
      Title: EGFR stimulation enables IL-6 trans-signalling via iRhom2-dependent ADAM17 activation in mammary epithelial cells.
    7. RHBDF2 is correlated with immune infiltrates in hepatocellular carcinoma and may have potential as a biomarker.
      Title: RHBDF2 is correlated with immune infiltrates in hepatocellular carcinoma and may have potential as a biomarker.
    8. iRhom2 regulates ERBB signalling to promote KRAS-driven tumour growth of lung cancer cells.
      Title: iRhom2 regulates ERBB signalling to promote KRAS-driven tumour growth of lung cancer cells.
    9. Deficiency in Inactive Rhomboid Protein2 (iRhom2) Alleviates Alcoholic Liver Fibrosis by Suppressing Inflammation and Oxidative Stress.
      Title: Deficiency in Inactive Rhomboid Protein2 (iRhom2) Alleviates Alcoholic Liver Fibrosis by Suppressing Inflammation and Oxidative Stress.
    10. Attenuation of Excess TNF-alpha Release in Crohn's Disease by Silencing of iRHOMs 1/2 and the Restoration of TGF-beta Mediated Immunosuppression Through Modulation of TACE Trafficking.
      Title: Attenuation of Excess TNF-α Release in Crohn's Disease by Silencing of iRHOMs 1/2 and the Restoration of TGF-β Mediated Immunosuppression Through Modulation of TACE Trafficking.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    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

    Associated conditions

    Description Tests
    Palmoplantar keratoderma-esophageal carcinoma syndrome
    MedGen: C1835664 OMIM: 148500 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    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

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    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)

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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_032852.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001005498.4 → NP_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:622 → 762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99 → 305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716 → 812
      ECF_trnsprt; ECF transporter, substrate-specific component

    2. NM_001376228.1 → NP_001363157.1  inactive rhomboid protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC015802
      Consensus CDS
      CCDS32744.1
      Conserved Domains (3) summary
      pfam01694
      Location:622 → 762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99 → 305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716 → 812
      ECF_trnsprt; ECF transporter, substrate-specific component

    3. NM_001376229.1 → NP_001363158.1  inactive rhomboid protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC015802
      Consensus CDS
      CCDS32744.1
      Conserved Domains (3) summary
      pfam01694
      Location:622 → 762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99 → 305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716 → 812
      ECF_trnsprt; ECF transporter, substrate-specific component

    4. NM_001376230.1 → NP_001363159.1  inactive rhomboid protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC015802
      Consensus CDS
      CCDS32744.1
      Conserved Domains (3) summary
      pfam01694
      Location:622 → 762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99 → 305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716 → 812
      ECF_trnsprt; ECF transporter, substrate-specific component

    5. NM_024599.5 → NP_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:648 → 789
      Rhomboid; Rhomboid family
      pfam12595
      Location:128 → 334
      Rhomboid_SP; Rhomboid serine protease
      cl19823
      Location:748 → 832
      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_2024_08

    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_011525251.3 → XP_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:622 → 762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99 → 305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716 → 812
      ECF_trnsprt; ECF transporter, substrate-specific component

    2. XM_047436744.1 → XP_047292700.1  inactive rhomboid protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9

    3. XM_011525250.3 → XP_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:622 → 762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99 → 305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716 → 812
      ECF_trnsprt; ECF transporter, substrate-specific component

    4. XM_047436745.1 → XP_047292701.1  inactive rhomboid protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9

    5. XM_047436752.1 → XP_047292708.1  inactive rhomboid protein 2 isoform X2

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

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9

    7. XM_005257669.4 → XP_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:648 → 789
      Rhomboid; Rhomboid family
      pfam12595
      Location:128 → 334
      Rhomboid_SP; Rhomboid serine protease
      cl19823
      Location:748 → 832
      GtrA; GtrA-like protein

    8. XM_047436751.1 → XP_047292707.1  inactive rhomboid protein 2 isoform X2

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

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9

    10. XM_047436755.1 → XP_047292711.1  inactive rhomboid protein 2 isoform X2

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

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9

    12. XM_047436756.1 → XP_047292712.1  inactive rhomboid protein 2 isoform X2

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

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9

    14. XM_011525249.3 → XP_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:622 → 762
      Rhomboid; Rhomboid family
      pfam12595
      Location:99 → 305
      Rhomboid_SP; Rhomboid serine protease
      cl21488
      Location:716 → 812
      ECF_trnsprt; ECF transporter, substrate-specific component

    15. XM_047436749.1 → XP_047292705.1  inactive rhomboid protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9

    16. XM_047436753.1 → XP_047292709.1  inactive rhomboid protein 2 isoform X2

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

      UniProtKB/Swiss-Prot
      A6NEM3, A8K801, Q5U607, Q5YGQ8, Q6PJF5, Q9H6E9

    18. XM_047436757.1 → XP_047292713.1  inactive rhomboid protein 2 isoform X3

      UniProtKB/TrEMBL
      B7Z8H4

    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_054317223.1 → XP_054173198.1  inactive rhomboid protein 2 isoform X2

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

      UniProtKB/TrEMBL
      B7Z8H4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PJF5.2 GenPept UniProtKB/Swiss-Prot:Q6PJF5

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