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

Gene ID: 22841, updated on 6-Jan-2019

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
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
Expression
Ubiquitous expression in endometrium (RPKM 12.0), brain (RPKM 9.2) and 25 other tissues See more
Orthologs

Genomic context

See RAB11FIP2 in Genome Data Viewer
Location:
10q26.11
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (118004916..118046921, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (119764427..119806297, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378504 Neighboring gene VISTA enhancer hs1551 Neighboring gene cancer susceptibility 2 Neighboring gene uncharacterized LOC101927760 Neighboring gene uncharacterized LOC105378506

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Aquaporin-mediated transport, organism-specific biosystem (from REACTOME)
    Aquaporin-mediated transport, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Vasopressin regulates renal water homeostasis via Aquaporins, organism-specific biosystem (from REACTOME)
    Vasopressin regulates renal water homeostasis via Aquaporins, organism-specific biosystemIn the kidney water and solutes are passed out of the bloodstream and into the proximal tubule via the slit-like structure formed by nephrin in the glomerulus. Water is reabsorbed from the filtrate d...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0941

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
establishment of cell polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
insulin secretion involved in cellular response to glucose stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein localization to plasma membrane IEA
Inferred from Electronic Annotation
more info
 
regulated exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulated exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
renal water homeostasis TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasmic vesicle membrane TAS
Traceable Author Statement
more info
 
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
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)
RAB11-FIP2 long isoform

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_001330167.1NP_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
    Q7L804
    Related
    ENSP00000347839.3, ENST00000355624.7
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    118004916..118046921 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015926.1XP_016871415.1  rab11 family-interacting protein 2 isoform X1

    Conserved Domains (1) summary
    cd08682
    Location:15141
    C2_Rab11-FIP_classI; C2 domain found in Rab11-family interacting proteins (FIP) class I
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