FER1L5 Gene (Protein Coding)

Fer-1 Like Family Member 5

GC02P096643
GIFtS:
27
See more...

Aliases for FER1L5 Gene

Aliases for FER1L5 Gene

  • Fer-1 Like Family Member 5 2 3 5
  • Fer-1-Like Protein 5 3 4
  • Fer-1-Like 5 (C. Elegans) 2
  • DKFZp434I0121 2
  • Fer-1-Like 5 3
  • FER1L5 5

External Ids for FER1L5 Gene

Previous GeneCards Identifiers for FER1L5 Gene

  • GC08U900646
  • GC02P096673
  • GC02P096724
  • GC02P097308

Summaries for FER1L5 Gene

GeneCards Summary for FER1L5 Gene

FER1L5 (Fer-1 Like Family Member 5) is a Protein Coding gene. Diseases associated with FER1L5 include Miyoshi Muscular Dystrophy and Deafness, Autosomal Recessive 9. An important paralog of this gene is DYSF.

UniProtKB/Swiss-Prot Summary for FER1L5 Gene

  • Plays a role in myoblast fusion; probable mediator of endocytic recycling for membrane trafficking events during myotube formation.

Additional gene information for FER1L5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FER1L5 Gene

Genomics for FER1L5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FER1L5 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J096642 Promoter/Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 600.7 +0.2 210 0.9 PRDM10 RFX1 PKNOX1 POLR2A BMI1 ELF1 SIN3A IKZF1 TAF1 TBP FER1L5 KANSL3 NONHSAG028619.2 CIAO1 RF00017-3268 LMAN2L
GH02J096615 Promoter/Enhancer 1.2 Ensembl ENCODE 13 -25.3 -25306 4.8 GATAD2A RXRB SP1 GABPA CEBPB NFE2 FOXA2 ATF3 YY1 JUND CNNM3 ARID5A FER1L5 KANSL3 LOC105373496 LMAN2L CNNM4 ITPRIPL1 SNRNP200 lnc-NEURL3-5
GH02J096694 Enhancer 0.5 Ensembl 12.1 +51.9 51882 1.6 NFIC ZNF335 NFIB NRF1 LCORL LMAN2L FER1L5 KANSL3 lnc-LMAN2L-2 lnc-CNNM4-2
GH02J096636 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 0.4 -5.3 -5260 3.3 SP1 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 ZNF629 TFE3 NFKBIZ SMAD2 KANSL3 lnc-LMAN2L-4 SNRNP200 ANKRD36B CNNM3 CIAO1 NCAPH STARD7-AS1 LMAN2L ANKRD36
GH02J096663 Enhancer 1.2 FANTOM5 Ensembl ENCODE 0.4 +22.6 22593 4.6 PRDM10 KDM1A ZNF7 JUND FOXA1 PRDM1 PKNOX1 CEBPA SCRT2 CEBPB LMAN2L CNNM4 ITPRIPL1 CNNM3 ARID5A CIAO1 SNRNP200 KANSL3 GPAT2 TMEM127
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FER1L5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FER1L5

Top Transcription factor binding sites by QIAGEN in the FER1L5 gene promoter:
  • AML1a
  • AREB6
  • ATF6
  • c-Myb
  • Evi-1
  • HOXA9
  • HOXA9B
  • LCR-F1
  • YY1
  • Zic3

Genomic Locations for FER1L5 Gene

Genomic Locations for FER1L5 Gene
chr2:96,642,719-96,704,887
(GRCh38/hg38)
Size:
62,169 bases
Orientation:
Plus strand
chr2:97,308,474-97,370,624
(GRCh37/hg19)
Size:
62,151 bases
Orientation:
Plus strand

Genomic View for FER1L5 Gene

Genes around FER1L5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FER1L5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FER1L5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FER1L5 Gene

Proteins for FER1L5 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for FER1L5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0AVI2-FR1L5_HUMAN
    Recommended name:
    Fer-1-like protein 5
    Protein Accession:
    A0AVI2
    Secondary Accessions:
    • A0A096LNV2
    • Q17RH2
    • Q6ZU24

    Protein attributes for FER1L5 Gene

    Size:
    2057 amino acids
    Molecular mass:
    237935 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts (via second C2 domain) with EHD1 and EHD2.
    Miscellaneous:
    • [Isoform 1]: Gene prediction based on partial mRNA data.

    Alternative splice isoforms for FER1L5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FER1L5 Gene

Protein Expression for FER1L5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FER1L5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FER1L5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FER1L5 Gene

Domains & Families for FER1L5 Gene

Gene Families for FER1L5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for FER1L5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FER1L5 Gene

GenScript: Design optimal peptide antigens:
  • FER1L5 protein (B7ZLI3_HUMAN)
  • Fer-1-like protein 5 (FR1L5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A0AVI2

UniProtKB/Swiss-Prot:

FR1L5_HUMAN :
  • Belongs to the ferlin family.
Family:
  • Belongs to the ferlin family.
genes like me logo Genes that share domains with FER1L5: view

Function for FER1L5 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for FER1L5 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in myoblast fusion; probable mediator of endocytic recycling for membrane trafficking events during myotube formation.

Phenotypes From GWAS Catalog for FER1L5 Gene

Gene Ontology (GO) - Molecular Function for FER1L5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA 21873635
GO:0005544 calcium-dependent phospholipid binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FER1L5: view
genes like me logo Genes that share phenotypes with FER1L5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FER1L5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FER1L5 Gene

Localization for FER1L5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FER1L5 Gene

Cell membrane. Membrane. Single-pass membrane protein. Note=Colocalizes with EHD1 and EHD2 at plasma membrane in myoblasts and myotubes. Localizes into foci at the plasma membrane (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FER1L5 gene
Compartment Confidence
plasma membrane 4
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FER1L5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030315 T-tubule IBA 21873635
GO:0031410 cytoplasmic vesicle IBA 21873635
genes like me logo Genes that share ontologies with FER1L5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FER1L5 Gene

Pathways & Interactions for FER1L5 Gene

PathCards logo

SuperPathways for FER1L5 Gene

No Data Available

Interacting Proteins for FER1L5 Gene

Gene Ontology (GO) - Biological Process for FER1L5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001778 plasma membrane repair IBA 21873635
GO:0002280 monocyte activation involved in immune response IBA 21873635
GO:0002281 macrophage activation involved in immune response IBA 21873635
GO:0006906 vesicle fusion IBA 21873635
GO:0007009 plasma membrane organization IBA 21873635
genes like me logo Genes that share ontologies with FER1L5: view

No data available for Pathways by source and SIGNOR curated interactions for FER1L5 Gene

Drugs & Compounds for FER1L5 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for FER1L5 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FER1L5 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FER1L5

Alternative Splicing Database (ASD) splice patterns (SP) for FER1L5 Gene

No ASD Table

Relevant External Links for FER1L5 Gene

GeneLoc Exon Structure for
FER1L5

Expression for FER1L5 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FER1L5 Gene

mRNA expression in normal human tissues for FER1L5 Gene
mRNA expression by BioGPS for FER1L5 GenemRNA expression by GTEx for FER1L5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for FER1L5 Gene

This gene is overexpressed in Testis (x23.2) and Pancreas (x5.8).

Protein differential expression in normal tissues from HIPED for FER1L5 Gene

This gene is overexpressed in Rectum (14.8), Heart (8.4), Stomach (7.5), and Urinary Bladder (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FER1L5 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FER1L5

SOURCE GeneReport for Unigene cluster for FER1L5 Gene:

Hs.534025
genes like me logo Genes that share expression patterns with FER1L5: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FER1L5 Gene

Orthologs for FER1L5 Gene

This gene was present in the common ancestor of mammals.

Orthologs for FER1L5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FER1L5 30
  • 99.17 (n)
Dog
(Canis familiaris)
 Mammalia FER1L5 30
  • 84.98 (n)
Cow
(Bos Taurus)
 Mammalia FER1L5 30
  • 83.51 (n)
Mouse
(Mus musculus)
 Mammalia Fer1l5 30 17
  • 80.4 (n)
Rat
(Rattus norvegicus)
 Mammalia Fer1l5 30
  • 80.04 (n)
Species where no ortholog for FER1L5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for FER1L5 Gene

ENSEMBL:
Gene Tree for FER1L5 (if available)
TreeFam:
Gene Tree for FER1L5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FER1L5: view image

Paralogs for FER1L5 Gene

Paralogs for FER1L5 Gene

(3) SIMAP similar genes for FER1L5 Gene using alignment to 3 proteins:

  • FR1L5_HUMAN
  • B7ZLI3_HUMAN
  • Q2NNQ7_HUMAN
genes like me logo Genes that share paralogs with FER1L5: view

Variants for FER1L5 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FER1L5 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
725562 Benign: not provided 96,684,376(+) C/T SYNONYMOUS_VARIANT
rs4907201 - p.Ile354Thr
rs7599598 - p.Thr687Ala

Additional dbSNP identifiers (rs#s) for FER1L5 Gene

Structural Variations from Database of Genomic Variants (DGV) for FER1L5 Gene

Variant ID Type Subtype PubMed ID
dgv607e201 CNV deletion 23290073
esv2720413 CNV deletion 23290073
esv3425717 CNV duplication 20981092
esv3591690 CNV gain 21293372
esv5003 OTHER complex 18987735
nsv1135873 CNV deletion 24896259
nsv469775 CNV loss 16826518
nsv526313 CNV loss 19592680
nsv834306 CNV loss 17160897
nsv834307 CNV loss 17160897

Additional Variant Information for FER1L5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FER1L5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for FER1L5 Gene

Disorders for FER1L5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FER1L5 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FER1L5

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FER1L5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FER1L5 Gene

Publications for FER1L5 Gene

  1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  2. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PMID: 21926972) Psychiatric GWAS Consortium Bipolar Disorder Working Group (Nature genetics 2011) 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4

ExternalLinks

View latest publications for FER1L5 gene in Mastermind

Products for FER1L5 Gene

Sources for FER1L5 Gene