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

Gene ID: 2196, updated on 12-Oct-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
109.20190905 current GRCh38.p13 (GCF_000001405.39) 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 109.20190905

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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