GenTIGS

FAT atypical cadherin 4 (FAT4) Associated conditions: 1. Irido-corneo-trabecular dysgenesis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001291285.3	NP_001278214.1	NC_000004.12	(125314954..125492931)	Reference GRCh38.p14 Primary Assembly	X2GA70
2	REVIEWED	NM_001291303.3	NP_001278232.1	NC_000004.12	(125314954..125492931)	Reference GRCh38.p14 Primary Assembly	X2GA70
3	REVIEWED	NM_001437895.1	NP_001424824.1	NC_000004.12	(125314954..125492931)	Reference GRCh38.p14 Primary Assembly	X2GA70
4	REVIEWED	NM_001438396.1	NP_001425325.1	NC_000004.12	(125314954..125492931)	Reference GRCh38.p14 Primary Assembly	X2GA70
5	REVIEWED	NM_001438397.1	NP_001425326.1	NC_000004.12	(125314954..125492931)	Reference GRCh38.p14 Primary Assembly	X2GA70
6	REVIEWED	NM_024582.6	NP_078858.4	NC_000004.12	(125314954..125492931)	Reference GRCh38.p14 Primary Assembly	X2GA70

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 161 reference articles

Variant Information FAT atypical cadherin 4 (FAT4) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene FAT atypical cadherin 4 (FAT4)

ClinVar variants:Revealing mutagenic patterns

GO Term of FAT atypical cadherin 4 (FAT4)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	calcium ion binding	Function	-
2	Homo sapiens	IPI	enables	protein binding	Function	22153077
3	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
4	Homo sapiens	IEA	located_in	plasma membrane	Component	-
5	Homo sapiens	IBA	is_active_in	adherens junction	Component	-
6	Homo sapiens	IEA	involved_in	cell adhesion	Process	-
7	Homo sapiens	IEA	involved_in	homophilic cell-cell adhesion	Process	-
8	Homo sapiens	ISS	involved_in	heterophilic cell-cell adhesion	Process	-
9	Homo sapiens	IBA	involved_in	axonogenesis	Process	-
10	Homo sapiens	IEA	involved_in	anatomical structure morphogenesis	Process	-
11	Homo sapiens	IEA	located_in	membrane	Component	-
12	Homo sapiens	ISS	involved_in	cerebral cortex development	Process	-
13	Homo sapiens	ISS	involved_in	neurogenesis	Process	-
14	Homo sapiens	IBA	involved_in	epithelial cell differentiation	Process	-
15	Homo sapiens	ISS	involved_in	hippo signaling	Process	-
16	Homo sapiens	IBA	involved_in	cell-cell adhesion mediated by cadherin	Process	-
17	Homo sapiens	IEA	involved_in	generation of neurons	Process	-
18	Homo sapiens	IEA	involved_in	epithelium development	Process	-
19	Homo sapiens	HDA	located_in	extracellular exosome	Component	23533145
20	Homo sapiens	IEA	involved_in	cell-cell adhesion	Process	-