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    RAB11FIP2 RAB11 family interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 22841, updated on 27-Nov-2024

    Summary

    Official Symbol
    RAB11FIP2provided by HGNC
    Official Full Name
    RAB11 family interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:29152
    See related
    Ensembl:ENSG00000107560 MIM:608599; AllianceGenome:HGNC:29152
    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
    nRip11; Rab11-FIP2
    Summary
    Enables protein homodimerization activity and protein kinase binding activity. Involved in several processes, including TRAM-dependent toll-like receptor 4 signaling pathway; phagocytosis; and positive regulation of GTPase activity. Located in endosome; nucleoplasm; and phagocytic cup. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 12.0), brain (RPKM 9.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RAB11FIP2 in Genome Data Viewer
    Location:
    10q26.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (118004916..118046941, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (118898958..118940990, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (119764427..119806452, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2674 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:119545298-119545468 Neighboring gene VISTA enhancer hs1236 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:119597764-119598550 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:119658461-119659162 Neighboring gene uncharacterized LOC105378504 Neighboring gene VISTA enhancer hs1551 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:119739304-119740503 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:119795138-119795331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2863 Neighboring gene cancer susceptibility 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:119907111-119907355 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:119963650-119964234 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:119964235-119964819 Neighboring gene Sharpr-MPRA regulatory region 3281 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:119973305-119974504 Neighboring gene long intergenic non-protein coding RNA 2944 Neighboring gene NANOG hESC enhancer GRCh37_chr10:120025545-120026208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:120044911-120045412 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:120045413-120045912 Neighboring gene VISTA enhancer hs672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:120101641-120102140 Neighboring gene family with sequence similarity 204 member A

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog
    Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
    EBI GWAS Catalog
    Genome-wide interaction studies reveal sex-specific asthma risk alleles.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0941

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in TRAM-dependent toll-like receptor 4 signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in establishment of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in insulin secretion involved in cellular response to glucose stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulated exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulated exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasmic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in phagocytic cup IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in phagocytic cup IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    rab11 family-interacting protein 2
    Names
    RAB11 family interacting protein 2 (class I)

    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_001330167.2NP_001317096.1  rab11 family-interacting protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC022395, DQ013303, R52658
      Consensus CDS
      CCDS81512.1
      UniProtKB/Swiss-Prot
      Q7L804
      Related
      ENSP00000358200.3, ENST00000369199.5
      Conserved Domains (2) summary
      cd08682
      Location:15141
      C2_Rab11-FIP_classI; C2 domain found in Rab11-family interacting proteins (FIP) class I
      pfam09457
      Location:472519
      RBD-FIP; FIP domain
    2. NM_014904.3NP_055719.1  rab11 family-interacting protein 2 isoform 1

      See identical proteins and their annotated locations for NP_055719.1

      Status: VALIDATED

      Source sequence(s)
      AB023158, AC022395, BM975322
      Consensus CDS
      CCDS7602.1
      UniProtKB/Swiss-Prot
      A6NEI4, Q3I768, Q7L804, Q9Y2F0
      Related
      ENSP00000347839.3, ENST00000355624.8
      Conserved Domains (2) summary
      cd08682
      Location:15141
      C2_Rab11-FIP_classI; C2 domain found in Rab11-family interacting proteins (FIP) class I
      pfam09457
      Location:452499
      RBD-FIP; FIP domain

    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
      118004916..118046941 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      118898958..118940990 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)