Human Gene FCHO2 (ENST00000430046.7_4) from GENCODE V47lift37
  Description: FCH and mu domain containing endocytic adaptor 2, transcript variant 1 (from RefSeq NM_138782.3)
Gencode Transcript: ENST00000430046.7_4
Gencode Gene: ENSG00000157107.14_13
Transcript (Including UTRs)
   Position: hg19 chr5:72,251,868-72,386,349 Size: 134,482 Total Exon Count: 26 Strand: +
Coding Region
   Position: hg19 chr5:72,251,924-72,383,917 Size: 131,994 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:72,251,868-72,386,349)mRNA (may differ from genome)Protein (810 aa)
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-  Comments and Description Text from UniProtKB
  ID: FCHO2_HUMAN
DESCRIPTION: RecName: Full=FCH domain only protein 2;
FUNCTION: Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a lipid-binding activity with a preference for membranes enriched in phosphatidylserine and phosphoinositides (Pi(4,5) biphosphate) like the plasma membrane. Its membrane-bending activity might be important for the subsequent action of clathrin and adaptors in the formation of clathrin-coated vesicles. Involved in adaptor protein complex AP- 2-dependent endocytosis of the transferin receptor, it also functions in the AP-2-independent endocytosis of the LDL receptor.
SUBUNIT: Homodimer; disulfide-linked. May form homotetramer. Interacts with AP2A1. Interacts with EPS15, EPS15R, ITSN1 and ITSN2; recruit those scaffolding proteins which in turn may interact with the adaptor protein complex AP-2 at the plasma membrane. Interacts with DAB2 (via DPF motifs); mediates LDL receptor/LDLR endocytosis.
INTERACTION: P98078:Dab2 (xeno); NbExp=4; IntAct=EBI-2609756, EBI-1391846; P42566:EPS15; NbExp=3; IntAct=EBI-2609756, EBI-396684;
SUBCELLULAR LOCATION: Membrane, clathrin-coated pit; Peripheral membrane protein; Cytoplasmic side (By similarity). Note=Associated with forming but not mature clathrin-coated vesicles. The recruitment to coated-pits precede the one of clathrin and the adaptor protein complex AP-2 (By similarity).
PTM: Ubiquitinated. Mainly undergoes monoubiquitination but also polyubiquitination (By similarity).
MISCELLANEOUS: Deforms liposomes into a range of tubule diameters from 20 to 130 nm in vitro.
SIMILARITY: Belongs to the FCHO family.
SIMILARITY: Contains 1 FCH domain.
SIMILARITY: Contains 1 MUHD (Muniscin C-terminal mu homology domain) domain.
SEQUENCE CAUTION: Sequence=AAH14311.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.21 RPKM in Esophagus - Mucosa
Total median expression: 358.17 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.3056-0.452 Picture PostScript Text
3' UTR -505.902432-0.208 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001060 - FCH
IPR018808 - Muniscin_C-term_mu_dom

Pfam Domains:
PF00611 - Fes/CIP4, and EFC/F-BAR homology domain
PF10291 - Muniscin C-terminal mu homology domain

SCOP Domains:
103657 - BAR/IMD domain-like
49447 - Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2V0O - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q0JRZ9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
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    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001786 phosphatidylserine binding
GO:0005515 protein binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0035091 phosphatidylinositol binding
GO:0042802 identical protein binding

Biological Process:
GO:0006897 endocytosis
GO:0010324 membrane invagination
GO:0048268 clathrin coat assembly
GO:0048488 synaptic vesicle endocytosis
GO:0061024 membrane organization
GO:0072583 clathrin-dependent endocytosis
GO:0072659 protein localization to plasma membrane

Cellular Component:
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005905 clathrin-coated pit
GO:0016020 membrane
GO:0030136 clathrin-coated vesicle
GO:0098835 presynaptic endocytic zone membrane


-  Descriptions from all associated GenBank mRNAs
  BC137070 - Homo sapiens FCH domain only 2, mRNA (cDNA clone MGC:168690 IMAGE:9021067), complete cds.
AK056770 - Homo sapiens cDNA FLJ32208 fis, clone PLACE6003218, highly similar to LACTOGEN PRECURSOR.
AK291782 - Homo sapiens cDNA FLJ77426 complete cds, highly similar to Homo sapiens FCH domain only 2 (FCHO2), mRNA.
AK295141 - Homo sapiens cDNA FLJ60538 complete cds, highly similar to Homo sapiens FCH domain only 2 (FCHO2), mRNA.
AL831971 - Homo sapiens mRNA; cDNA DKFZp451B033 (from clone DKFZp451B033).
AM393291 - Synthetic construct Homo sapiens clone IMAGE:100002257 for hypothetical protein (FCHO2 gene).
AM393840 - Synthetic construct Homo sapiens clone IMAGE:100002258 for hypothetical protein (FCHO2 gene).
AL833313 - Homo sapiens mRNA; cDNA DKFZp313I017 (from clone DKFZp313I017).
BC006004 - Homo sapiens FCH domain only 2, mRNA (cDNA clone IMAGE:4272404), partial cds.
BC014311 - Homo sapiens FCH domain only 2, mRNA (cDNA clone IMAGE:3681707), complete cds.
CU676963 - Synthetic construct Homo sapiens gateway clone IMAGE:100019139 5' read FCHO2 mRNA.
KJ904964 - Synthetic construct Homo sapiens clone ccsbBroadEn_14358 FCHO2 gene, encodes complete protein.
AK293796 - Homo sapiens cDNA FLJ56950 complete cds, highly similar to Homo sapiens FCH domain only 2 (FCHO2), mRNA.
AL832928 - Homo sapiens mRNA; cDNA DKFZp666A0310 (from clone DKFZp666A0310).
JD482418 - Sequence 463442 from Patent EP1572962.
JD504509 - Sequence 485533 from Patent EP1572962.
JD297010 - Sequence 278034 from Patent EP1572962.
JD052582 - Sequence 33606 from Patent EP1572962.
JD502163 - Sequence 483187 from Patent EP1572962.
JD284552 - Sequence 265576 from Patent EP1572962.
JD213457 - Sequence 194481 from Patent EP1572962.
JD561811 - Sequence 542835 from Patent EP1572962.
JD344887 - Sequence 325911 from Patent EP1572962.
JD304446 - Sequence 285470 from Patent EP1572962.
JD370320 - Sequence 351344 from Patent EP1572962.
JD350493 - Sequence 331517 from Patent EP1572962.
JD233828 - Sequence 214852 from Patent EP1572962.
JD488803 - Sequence 469827 from Patent EP1572962.
JD314675 - Sequence 295699 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q0JRZ9 (Reactome details) participates in the following event(s):

R-HSA-8862280 FCHo proteins bind nascent clathrin-coated pit
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8866283 ARBB recruits GPCRs into clathrin-coated pits
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8856813 AAK1 phosphorylates AP-2 mu subunit at T156
R-HSA-8856808 Recruitment of AP-2 complex and clathrin
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6W7, B2RNQ9, B4DHK0, E9PG79, ENST00000430046.1, ENST00000430046.2, ENST00000430046.3, ENST00000430046.4, ENST00000430046.5, ENST00000430046.6, FCHO2_HUMAN, NM_138782, Q0JRZ9, Q0JTJ3, Q96CF5, uc319yxe.1, uc319yxe.2
UCSC ID: ENST00000430046.7_4
RefSeq Accession: NM_138782.3
Protein: Q0JRZ9 (aka FCHO2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.