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    RUFY2 RUN and FYVE domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 55680, updated on 10-Dec-2024

    Summary

    Official Symbol
    RUFY2provided by HGNC
    Official Full Name
    RUN and FYVE domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:19761
    See related
    Ensembl:ENSG00000204130 MIM:610328; AllianceGenome:HGNC:19761
    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
    RABIP4R; ZFYVE13
    Summary
    Enables SH3 domain binding activity. Predicted to be involved in regulation of endocytosis. Located in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 7.8), endometrium (RPKM 4.7) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See RUFY2 in Genome Data Viewer
    Location:
    10q21.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (68341112..68407277, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (69210323..69276503, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70100869..70167034, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene keratin 19 pseudogene 4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16457 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16478 Neighboring gene MPRA-validated peak989 silencer Neighboring gene MPRA-validated peak990 silencer Neighboring gene phenazine biosynthesis like protein domain containing Neighboring gene MPRA-validated peak991 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3460 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3462 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:70091533-70092347 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:70092348-70093161 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16564 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16571 Neighboring gene heterogeneous nuclear ribonucleoprotein H3 Neighboring gene MPRA-validated peak992 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16583 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16593 Neighboring gene MPRA-validated peak994 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70166191-70166692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70166693-70167192 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16635 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16643 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16656 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_16661/16662 and experimental_16666/16667 Neighboring gene ribosomal protein L26 pseudogene 29 Neighboring gene DNA replication helicase/nuclease 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16674 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16683 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16686/16687 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16694 Neighboring gene RNA, 5S ribosomal pseudogene 319

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    General gene information

    Clone Names

    • FLJ10063, KIAA1537

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding PubMed 
    enables metal ion binding  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in regulation of endocytosis PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in endosome PubMed 
    located_in nucleus  

    General protein information

    Preferred Names
    RUN and FYVE domain-containing protein 2
    Names
    Run- and FYVE-domain containing protein
    antigen MU-RMS-40.17
    rab4-interacting protein related

    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_001042417.2NP_001035882.1  RUN and FYVE domain-containing protein 2 isoform b

      See identical proteins and their annotated locations for NP_001035882.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon, lacks an alternate in-frame exon, and contains an alternate last exon in place of the last several exons compared to variant 1. The resulting isoform (b) has shorter and distinct N- and C-termini and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      BC041092, BM150360
      Consensus CDS
      CCDS44414.1
      UniProtKB/TrEMBL
      Q5GIA6
      Related
      ENSP00000382151.2, ENST00000399200.7
      Conserved Domains (2) summary
      COG1196
      Location:176380
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl02689
      Location:45132
      RUN; RUN domain
    2. NM_001278225.2NP_001265154.1  RUN and FYVE domain-containing protein 2 isoform c

      See identical proteins and their annotated locations for NP_001265154.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate first exon, lacks an alternate in-frame exon, and contains an alternate last exon in place of the last several exons compared to variant 1. The resulting isoform (c) has shorter and distinct N- and C-termini and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AK294211, BC041092
      Consensus CDS
      CCDS60544.1
      UniProtKB/TrEMBL
      Q5GIA6
      Related
      ENSP00000404986.2, ENST00000454950.6
      Conserved Domains (2) summary
      COG1196
      Location:172356
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam02759
      Location:1108
      RUN; RUN domain
    3. NM_001330103.2NP_001317032.1  RUN and FYVE domain-containing protein 2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate 5'-terminal exon, resulting in a different 5' UTR and use of an alternate start codon compared to variant 1. It encodes isoform d, which has a distinct N-terminus and is shorter than isoform d.
      Source sequence(s)
      AC016395, AF411980, AL136233, AY528716, BM998747
      Consensus CDS
      CCDS81470.1
      UniProtKB/Swiss-Prot
      B3KXB2, B4DFR0, Q5TC48, Q8IW33, Q8WXA3, Q96P51, Q9P1Z1
      UniProtKB/TrEMBL
      H0YD93
      Related
      ENSP00000473462.1, ENST00000602465.6
      Conserved Domains (3) summary
      COG1196
      Location:230536
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd15759
      Location:534604
      FYVE_RUFY2; FYVE domain found in RUN and FYVE domain-containing protein 2 (RUFY2) and similar proteins
      pfam02759
      Location:45166
      RUN; RUN domain
    4. NM_017987.5NP_060457.4  RUN and FYVE domain-containing protein 2 isoform a

      See identical proteins and their annotated locations for NP_060457.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC016395, AK127019, AL136233, BG681628, BQ006812
      Consensus CDS
      CCDS41534.1
      UniProtKB/TrEMBL
      H0YD93
      Related
      ENSP00000373420.2, ENST00000388768.6
      Conserved Domains (3) summary
      COG1196
      Location:245571
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd15759
      Location:569639
      FYVE_RUFY2; FYVE domain found in RUN and FYVE domain-containing protein 2 (RUFY2) and similar proteins
      pfam02759
      Location:80201
      RUN; RUN domain

    RNA

    1. NR_103475.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' and 3' ends compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB040970, AC016395, AK127019, AL136233
      Related
      ENST00000466493.5
    2. NR_103476.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' and 3' ends compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC016395, AF461266, BM150360, DA858392

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      68341112..68407277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425448.1XP_047281404.1  RUN and FYVE domain-containing protein 2 isoform X9

      UniProtKB/TrEMBL
      H0YD93
    2. XM_005269957.6XP_005270014.1  RUN and FYVE domain-containing protein 2 isoform X5

      See identical proteins and their annotated locations for XP_005270014.1

      UniProtKB/TrEMBL
      H0YD93
      Conserved Domains (3) summary
      COG1196
      Location:196502
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd15759
      Location:500570
      FYVE_RUFY2; FYVE domain found in RUN and FYVE domain-containing protein 2 (RUFY2) and similar proteins
      cl02689
      Location:45132
      RUN; RUN domain
    3. XM_047425446.1XP_047281402.1  RUN and FYVE domain-containing protein 2 isoform X7

      UniProtKB/TrEMBL
      H0YD93
    4. XM_047425445.1XP_047281401.1  RUN and FYVE domain-containing protein 2 isoform X6

      UniProtKB/TrEMBL
      H0YD93
    5. XM_005269953.5XP_005270010.1  RUN and FYVE domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005270010.1

      UniProtKB/TrEMBL
      H0YD93
      Conserved Domains (3) summary
      COG1196
      Location:231537
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd15759
      Location:535605
      FYVE_RUFY2; FYVE domain found in RUN and FYVE domain-containing protein 2 (RUFY2) and similar proteins
      cl02689
      Location:80167
      RUN; RUN domain
    6. XM_005269956.5XP_005270013.1  RUN and FYVE domain-containing protein 2 isoform X4

      UniProtKB/TrEMBL
      H0YD93
      Conserved Domains (6) summary
      cd15759
      Location:513583
      FYVE_RUFY2; FYVE domain found in RUN and FYVE domain-containing protein 2 (RUFY2) and similar proteins
      pfam02759
      Location:80203
      RUN; RUN domain
      pfam06156
      Location:258335
      DUF972; Protein of unknown function (DUF972)
      pfam09728
      Location:233514
      Taxilin; Myosin-like coiled-coil protein
      pfam16505
      Location:329408
      Emaravirus_P4; P4 movement protein of Emaravirus, and the 30K superfamily
      cl19219
      Location:355484
      DUF342; Protein of unknown function (DUF342)
    7. XM_047425444.1XP_047281400.1  RUN and FYVE domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KXB2, B4DFR0, Q5TC48, Q8IW33, Q8WXA3, Q96P51, Q9P1Z1
      UniProtKB/TrEMBL
      H0YD93
    8. XM_047425447.1XP_047281403.1  RUN and FYVE domain-containing protein 2 isoform X8

      UniProtKB/TrEMBL
      H0YD93
    9. XM_011539942.3XP_011538244.1  RUN and FYVE domain-containing protein 2 isoform X2

      See identical proteins and their annotated locations for XP_011538244.1

      UniProtKB/Swiss-Prot
      B3KXB2, B4DFR0, Q5TC48, Q8IW33, Q8WXA3, Q96P51, Q9P1Z1
      UniProtKB/TrEMBL
      H0YD93
      Conserved Domains (3) summary
      COG1196
      Location:230536
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd15759
      Location:534604
      FYVE_RUFY2; FYVE domain found in RUN and FYVE domain-containing protein 2 (RUFY2) and similar proteins
      pfam02759
      Location:45166
      RUN; RUN domain
    10. XM_005269955.5XP_005270012.1  RUN and FYVE domain-containing protein 2 isoform X3

      See identical proteins and their annotated locations for XP_005270012.1

      UniProtKB/TrEMBL
      H0YD93
      Conserved Domains (3) summary
      COG1196
      Location:214520
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd15759
      Location:518588
      FYVE_RUFY2; FYVE domain found in RUN and FYVE domain-containing protein 2 (RUFY2) and similar proteins
      pfam02759
      Location:29150
      RUN; RUN domain
    11. XM_047425456.1XP_047281412.1  RUN and FYVE domain-containing protein 2 isoform X17

      UniProtKB/TrEMBL
      Q5GIA6
    12. XM_047425455.1XP_047281411.1  RUN and FYVE domain-containing protein 2 isoform X16

      UniProtKB/TrEMBL
      Q5GIA6
    13. XM_047425450.1XP_047281406.1  RUN and FYVE domain-containing protein 2 isoform X11

      UniProtKB/TrEMBL
      Q5GIA6
    14. XM_047425457.1XP_047281413.1  RUN and FYVE domain-containing protein 2 isoform X18

      UniProtKB/TrEMBL
      Q5GIA6
    15. XM_047425452.1XP_047281408.1  RUN and FYVE domain-containing protein 2 isoform X13

      UniProtKB/TrEMBL
      Q5GIA6
    16. XM_047425451.1XP_047281407.1  RUN and FYVE domain-containing protein 2 isoform X12

    17. XM_047425454.1XP_047281410.1  RUN and FYVE domain-containing protein 2 isoform X15

      UniProtKB/TrEMBL
      Q5GIA6
    18. XM_047425449.1XP_047281405.1  RUN and FYVE domain-containing protein 2 isoform X10

    19. XM_047425453.1XP_047281409.1  RUN and FYVE domain-containing protein 2 isoform X14

      UniProtKB/TrEMBL
      Q5GIA6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      69210323..69276503 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366258.1XP_054222233.1  RUN and FYVE domain-containing protein 2 isoform X9

      UniProtKB/TrEMBL
      H0YD93
    2. XM_054366254.1XP_054222229.1  RUN and FYVE domain-containing protein 2 isoform X5

      UniProtKB/TrEMBL
      H0YD93
    3. XM_054366256.1XP_054222231.1  RUN and FYVE domain-containing protein 2 isoform X7

      UniProtKB/TrEMBL
      H0YD93
    4. XM_054366255.1XP_054222230.1  RUN and FYVE domain-containing protein 2 isoform X6

      UniProtKB/TrEMBL
      H0YD93
    5. XM_054366250.1XP_054222225.1  RUN and FYVE domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      H0YD93
    6. XM_054366253.1XP_054222228.1  RUN and FYVE domain-containing protein 2 isoform X4

      UniProtKB/TrEMBL
      H0YD93
    7. XM_054366251.1XP_054222226.1  RUN and FYVE domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KXB2, B4DFR0, Q5TC48, Q8IW33, Q8WXA3, Q96P51, Q9P1Z1
      UniProtKB/TrEMBL
      H0YD93
    8. XM_054366257.1XP_054222232.1  RUN and FYVE domain-containing protein 2 isoform X8

      UniProtKB/TrEMBL
      H0YD93
    9. XM_054366252.1XP_054222227.1  RUN and FYVE domain-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      H0YD93
    10. XM_054366266.1XP_054222241.1  RUN and FYVE domain-containing protein 2 isoform X17

      UniProtKB/TrEMBL
      Q5GIA6
    11. XM_054366265.1XP_054222240.1  RUN and FYVE domain-containing protein 2 isoform X16

      UniProtKB/TrEMBL
      Q5GIA6
    12. XM_054366260.1XP_054222235.1  RUN and FYVE domain-containing protein 2 isoform X11

      UniProtKB/TrEMBL
      Q5GIA6
    13. XM_054366267.1XP_054222242.1  RUN and FYVE domain-containing protein 2 isoform X18

      UniProtKB/TrEMBL
      Q5GIA6
    14. XM_054366262.1XP_054222237.1  RUN and FYVE domain-containing protein 2 isoform X13

      UniProtKB/TrEMBL
      Q5GIA6
    15. XM_054366261.1XP_054222236.1  RUN and FYVE domain-containing protein 2 isoform X12

    16. XM_054366264.1XP_054222239.1  RUN and FYVE domain-containing protein 2 isoform X15

      UniProtKB/TrEMBL
      Q5GIA6
    17. XM_054366259.1XP_054222234.1  RUN and FYVE domain-containing protein 2 isoform X10

    18. XM_054366263.1XP_054222238.1  RUN and FYVE domain-containing protein 2 isoform X14

      UniProtKB/TrEMBL
      Q5GIA6
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