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

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; 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: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development.
Title: Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development.
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.
Human Fat2 is localized at immature adherens junctions in epidermal keratinocytes.
Title: Human Fat2 is localized at immature adherens junctions in epidermal keratinocytes.

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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	Compare labs

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

SHGC-111788 (e-PCR)
- UniSTS:168748

bac5571T (e-PCR)
- UniSTS:181645

Cda1id10 (e-PCR)
- UniSTS:31189

SHGC-141492 (e-PCR)
- UniSTS:184053

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 more info	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

NG_046979.1 RefSeqGene

Range

65810..153049

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

151504092..151594819 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
XM_047416934.1 → XP_047272890.1 protocadherin Fat 2 isoform X2
XM_017009227.2 → XP_016864716.1 protocadherin Fat 2 isoform X3