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    FAT2 FAT atypical cadherin 2 [ Homo sapiens (human) ]

    Gene ID: 2196, updated on 15-Jun-2019

    Summary

    Official Symbol
    FAT2provided by HGNC
    Official Full Name
    FAT atypical cadherin 2provided by HGNC
    Primary source
    HGNC:HGNC:3596
    See related
    Ensembl:ENSG00000086570 MIM:604269
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDHF8; CDHR9; HFAT2; MEGF1; SCA45
    Summary
    This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in skin (RPKM 15.3), esophagus (RPKM 6.4) and 3 other tissues See more
    Orthologs

    Genomic context

    See FAT2 in Genome Data Viewer
    Location:
    5q33.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (151504092..151594822, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150883653..150948505, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378234 Neighboring gene RUN domain containing 1 pseudogene Neighboring gene solute carrier family 36 member 1 Neighboring gene RNA, 5S ribosomal pseudogene 197 Neighboring gene microRNA 6499 Neighboring gene uncharacterized LOC105378231 Neighboring gene secreted protein acidic and cysteine rich Neighboring gene colorectal liver metastasis associated transcript 3

    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

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-substrate adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epithelial cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epithelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    homophilic cell adhesion via plasma membrane adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protocadherin Fat 2
    Names
    FAT tumor suppressor homolog 2
    cadherin family member 8
    cadherin-related family member 9
    multiple EGF-like domains protein 1
    multiple epidermal growth factor-like domains 1
    multiple epidermal growth factor-like domains protein 1
    protocadherin FAT2

    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.

    Genomic

    1. NG_046979.1 RefSeqGene

      Range
      88197..153049
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001447.2NP_001438.1  protocadherin Fat 2 precursor

      See identical proteins and their annotated locations for NP_001438.1

      Status: REVIEWED

      Source sequence(s)
      AC011337, AF231022, BC039143
      Consensus CDS
      CCDS4317.1
      UniProtKB/Swiss-Prot
      Q9NYQ8
      UniProtKB/TrEMBL
      Q6PIA2
      Related
      ENSP00000261800.5, ENST00000261800.5
      Conserved Domains (4) summary
      cd11304
      Location:33253422
      Cadherin_repeat; Cadherin tandem repeat domain
      cd00054
      Location:39493984
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00008
      Location:39904020
      EGF; EGF-like domain
      pfam02210
      Location:38003921
      Laminin_G_2; Laminin G 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.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      151504092..151594822 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009225.1XP_016864714.1  protocadherin Fat 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9NYQ8
      Conserved Domains (4) summary
      cd11304
      Location:33253422
      Cadherin_repeat; Cadherin tandem repeat domain
      cd00054
      Location:39493984
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00008
      Location:39904020
      EGF; EGF-like domain
      pfam02210
      Location:38003921
      Laminin_G_2; Laminin G domain
    2. XM_011537600.2XP_011535902.1  protocadherin Fat 2 isoform X1

      See identical proteins and their annotated locations for XP_011535902.1

      UniProtKB/Swiss-Prot
      Q9NYQ8
      Conserved Domains (4) summary
      cd11304
      Location:33253422
      Cadherin_repeat; Cadherin tandem repeat domain
      cd00054
      Location:39493984
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00008
      Location:39904020
      EGF; EGF-like domain
      pfam02210
      Location:38003921
      Laminin_G_2; Laminin G domain
    3. XM_017009224.1XP_016864713.1  protocadherin Fat 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9NYQ8
      Conserved Domains (4) summary
      cd11304
      Location:33253422
      Cadherin_repeat; Cadherin tandem repeat domain
      cd00054
      Location:39493984
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00008
      Location:39904020
      EGF; EGF-like domain
      pfam02210
      Location:38003921
      Laminin_G_2; Laminin G domain
    4. XM_006714761.3XP_006714824.1  protocadherin Fat 2 isoform X1

      See identical proteins and their annotated locations for XP_006714824.1

      UniProtKB/Swiss-Prot
      Q9NYQ8
      Conserved Domains (4) summary
      cd11304
      Location:33253422
      Cadherin_repeat; Cadherin tandem repeat domain
      cd00054
      Location:39493984
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00008
      Location:39904020
      EGF; EGF-like domain
      pfam02210
      Location:38003921
      Laminin_G_2; Laminin G domain
    5. XM_011537603.2XP_011535905.1  protocadherin Fat 2 isoform X1

      See identical proteins and their annotated locations for XP_011535905.1

      UniProtKB/Swiss-Prot
      Q9NYQ8
      Conserved Domains (4) summary
      cd11304
      Location:33253422
      Cadherin_repeat; Cadherin tandem repeat domain
      cd00054
      Location:39493984
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00008
      Location:39904020
      EGF; EGF-like domain
      pfam02210
      Location:38003921
      Laminin_G_2; Laminin G domain
    6. XM_017009227.1XP_016864716.1  protocadherin Fat 2 isoform X2

    RNA

    1. XR_001742039.1 RNA Sequence

    2. XR_002956152.1 RNA Sequence

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