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

Gene ID: 2196, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:3596
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
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Genomic context

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See FAT2 in Genome Data Viewer
Location:
5q33.1
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (151504092..151594819, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (152043070..152133808, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150883653..150970892, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378234 Neighboring gene solute carrier family 36 member 1 Neighboring gene RUN domain containing 1 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150767117-150768055 Neighboring gene NANOG-H3K4me1 hESC enhancers GRCh37_chr5:150804400-150804900 and GRCh37_chr5:150804901-150805401 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:150816347-150816517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23457 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82502 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82529 Neighboring gene RNA, 5S ribosomal pseudogene 197 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:150875552-150876101 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150877439-150878100 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82540 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82543 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82555 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82563 Neighboring gene microRNA 6499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150950930-150951442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150974668-150975189 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150998970-150999648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150999649-151000325 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:151003759-151004958 Neighboring gene uncharacterized LOC105378231 Neighboring gene uncharacterized LOC124901116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23460 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:151042798-151043997 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:151063929-151064758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:151065587-151066416 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:151066417-151067244 Neighboring gene secreted protein acidic and cysteine rich Neighboring gene colorectal liver metastasis associated transcript 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Identification of the RP11-21C4.1/SVEP1 gene pair associated with FAT2 mutations as a potential biomarker in gastric cancer. Zhou L, et al. Bioengineered, 2021 Dec. PMID 34308747, Free PMC Article
  2. Human Fat2 is localized at immature adherens junctions in epidermal keratinocytes. Matsui S, et al. J Dermatol Sci, 2007 Dec. PMID 17900869
  3. ΔNp63α induces the expression of FAT2 and Slug to promote tumor invasion. Dang TT, et al. Oncotarget, 2016 May 10. PMID 27081041, Free PMC Article
  4. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Nibbeling EAR, et al. Brain, 2017 Nov 1. PMID 29053796
  5. Alternative splice variants encoding unstable protein domains exist in the human brain. Homma K, et al. J Mol Biol, 2004 Nov 5. PMID 15491607

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of the RP11-21C4.1/SVEP1 gene pair associated with FAT2 mutations as a potential biomarker in gastric cancer.
    Title: Identification of the RP11-21C4.1/SVEP1 gene pair associated with FAT2 mutations as a potential biomarker in gastric cancer.
  2. Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development.
    Title: Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development.
  3. DeltaNp63alpha (TP63) is co-expressed with FAT2 and Slug in patient tumors and the elevated expression of DeltaNp63alpha, FAT2 and Slug correlated with poor patient outcome.
    Title: ΔNp63α induces the expression of FAT2 and Slug to promote tumor invasion.
  4. Human Fat2 is localized at immature adherens junctions in epidermal keratinocytes.
    Title: Human Fat2 is localized at immature adherens junctions in epidermal keratinocytes.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Spinocerebellar ataxia 45
MedGen: C4540400 OMIM: 617769 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
protocadherin Fat 2
Names
FAT tumor suppressor homolog 2
cadherin family member 8
cadherin-related family member 9
multiple EGF like domains 1
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)

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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
    65810..153049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001447.3 → NP_001438.1  protocadherin Fat 2 precursor

    See identical proteins and their annotated locations for NP_001438.1

    Status: REVIEWED

    Source sequence(s)
    AC011337, AC011374, AF231022, BC039143
    Consensus CDS
    CCDS4317.1
    UniProtKB/Swiss-Prot
    O75091, Q9NSR7, Q9NYQ8
    Related
    ENSP00000261800.5, ENST00000261800.6
    Conserved Domains (4) summary
    cd11304
    Location:3325 → 3422
    Cadherin_repeat; Cadherin tandem repeat domain
    cd00054
    Location:3949 → 3984
    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:3990 → 4020
    EGF; EGF-like domain
    pfam02210
    Location:3800 → 3921
    Laminin_G_2; Laminin G 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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    151504092..151594819 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    O75091, Q9NSR7, Q9NYQ8
    Conserved Domains (4) summary
    cd11304
    Location:3325 → 3422
    Cadherin_repeat; Cadherin tandem repeat domain
    cd00054
    Location:3949 → 3984
    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:3990 → 4020
    EGF; EGF-like domain
    pfam02210
    Location:3800 → 3921
    Laminin_G_2; Laminin G domain

  2. XM_011537600.3 → XP_011535902.1  protocadherin Fat 2 isoform X1

    See identical proteins and their annotated locations for XP_011535902.1

    UniProtKB/Swiss-Prot
    O75091, Q9NSR7, Q9NYQ8
    Conserved Domains (4) summary
    cd11304
    Location:3325 → 3422
    Cadherin_repeat; Cadherin tandem repeat domain
    cd00054
    Location:3949 → 3984
    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:3990 → 4020
    EGF; EGF-like domain
    pfam02210
    Location:3800 → 3921
    Laminin_G_2; Laminin G domain

  3. XM_017009224.2 → XP_016864713.1  protocadherin Fat 2 isoform X1

    UniProtKB/Swiss-Prot
    O75091, Q9NSR7, Q9NYQ8
    Conserved Domains (4) summary
    cd11304
    Location:3325 → 3422
    Cadherin_repeat; Cadherin tandem repeat domain
    cd00054
    Location:3949 → 3984
    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:3990 → 4020
    EGF; EGF-like domain
    pfam02210
    Location:3800 → 3921
    Laminin_G_2; Laminin G domain

  4. XM_011537603.2 → XP_011535905.1  protocadherin Fat 2 isoform X1

    See identical proteins and their annotated locations for XP_011535905.1

    UniProtKB/Swiss-Prot
    O75091, Q9NSR7, Q9NYQ8
    Conserved Domains (4) summary
    cd11304
    Location:3325 → 3422
    Cadherin_repeat; Cadherin tandem repeat domain
    cd00054
    Location:3949 → 3984
    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:3990 → 4020
    EGF; EGF-like domain
    pfam02210
    Location:3800 → 3921
    Laminin_G_2; Laminin G domain

  5. XM_047416934.1 → XP_047272890.1  protocadherin Fat 2 isoform X2

  6. XM_017009227.2 → XP_016864716.1  protocadherin Fat 2 isoform X3

RNA

  1. XR_007058588.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    152043070..152133808 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352050.1 → XP_054208025.1  protocadherin Fat 2 isoform X1

  2. XM_054352048.1 → XP_054208023.1  protocadherin Fat 2 isoform X1

  3. XM_054352049.1 → XP_054208024.1  protocadherin Fat 2 isoform X1

  4. XM_054352051.1 → XP_054208026.1  protocadherin Fat 2 isoform X1

  5. XM_054352052.1 → XP_054208027.1  protocadherin Fat 2 isoform X2

  6. XM_054352053.1 → XP_054208028.1  protocadherin Fat 2 isoform X3

RNA

  1. XR_008487096.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NYQ8.2 GenPept UniProtKB/Swiss-Prot:Q9NYQ8

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