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

Gene ID: 55680, updated on 21-Dec-2019

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
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
Expression
Ubiquitous expression in brain (RPKM 7.8), endometrium (RPKM 4.7) and 25 other tissues See more
Orthologs

Genomic context

See RUFY2 in Genome Data Viewer
Location:
10q21.3
Exon count:
22
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (68341112..68407302, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70100864..70167051, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene keratin 19 pseudogene 4 Neighboring gene phenazine biosynthesis like protein domain containing Neighboring gene Sharpr-MPRA regulatory region 82 Neighboring gene heterogeneous nuclear ribonucleoprotein H3 Neighboring gene ribosomal protein L26 pseudogene 29 Neighboring gene DNA replication helicase/nuclease 2 Neighboring gene RNA, 5S ribosomal pseudogene 319

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10063, KIAA1537

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
regulation of endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endosome ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

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)

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_001042417.1NP_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/Swiss-Prot
    Q8WXA3
    Related
    ENSP00000382151.2, ENST00000399200.7
    Conserved Domains (2) summary
    cl02689
    Location:45132
    RUN; RUN domain
    cl25732
    Location:176380
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001278225.1NP_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, BM150360
    Consensus CDS
    CCDS60544.1
    UniProtKB/Swiss-Prot
    Q8WXA3
    Related
    ENSP00000404986.2, ENST00000454950.6
    Conserved Domains (2) summary
    pfam02759
    Location:1108
    RUN; RUN domain
    cl25732
    Location:172356
    SMC_N; RecF/RecN/SMC N terminal 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
    Q8WXA3
    UniProtKB/TrEMBL
    Q5GIA6
    Related
    ENSP00000473462.1, ENST00000602465.5
    Conserved Domains (3) summary
    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
    cl25732
    Location:230536
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_017987.4NP_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/Swiss-Prot
    Q8WXA3
    Related
    ENSP00000373420.2, ENST00000388768.6
    Conserved Domains (3) summary
    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
    cl25732
    Location:245571
    SMC_N; RecF/RecN/SMC N terminal 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: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    68341112..68407302 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269957.5XP_005270014.1  RUN and FYVE domain-containing protein 2 isoform X5

    See identical proteins and their annotated locations for XP_005270014.1

    Conserved Domains (3) summary
    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
    cl25732
    Location:196502
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_005269953.4XP_005270010.1  RUN and FYVE domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005270010.1

    Conserved Domains (5) summary
    cd15759
    Location:535605
    FYVE_RUFY2; FYVE domain found in RUN and FYVE domain-containing protein 2 (RUFY2) and similar proteins
    pfam06156
    Location:224301
    DUF972; Protein of unknown function (DUF972)
    pfam09728
    Location:210536
    Taxilin; Myosin-like coiled-coil protein
    cl02689
    Location:80169
    RUN; RUN domain
    cl19219
    Location:377506
    DUF342; Protein of unknown function (DUF342)
  3. XM_005269956.4XP_005270013.1  RUN and FYVE domain-containing protein 2 isoform X4

    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)
  4. XM_011539942.2XP_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
    Q8WXA3
    Conserved Domains (3) summary
    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
    cl25732
    Location:230536
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_005269955.4XP_005270012.1  RUN and FYVE domain-containing protein 2 isoform X3

    See identical proteins and their annotated locations for XP_005270012.1

    UniProtKB/Swiss-Prot
    Q8WXA3
    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

RNA

  1. XR_001747133.1 RNA Sequence

  2. XR_001747135.2 RNA Sequence

  3. XR_001747131.2 RNA Sequence

  4. XR_001747127.2 RNA Sequence

  5. XR_001747126.1 RNA Sequence

  6. XR_001747134.1 RNA Sequence

  7. XR_246097.2 RNA Sequence

  8. XR_001747128.1 RNA Sequence

  9. XR_001747125.1 RNA Sequence

  10. XR_001747129.1 RNA Sequence

  11. XR_001747130.2 RNA Sequence

  12. XR_001747132.2 RNA Sequence

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