Human Gene AFAP1L2 (ENST00000304129.9_11) from GENCODE V47lift37
  Description: actin filament associated protein 1 like 2, transcript variant 15 (from RefSeq NM_001351075.2)
Gencode Transcript: ENST00000304129.9_11
Gencode Gene: ENSG00000169129.16_16
Transcript (Including UTRs)
   Position: hg19 chr10:116,054,583-116,164,261 Size: 109,679 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr10:116,055,801-116,164,214 Size: 108,414 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:116,054,583-116,164,261)mRNA (may differ from genome)Protein (818 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AF1L2_HUMAN
DESCRIPTION: RecName: Full=Actin filament-associated protein 1-like 2; Short=AFAP1-like protein 2;
FUNCTION: May play a role in a signaling cascade by enhancing the kinase activity of SRC. Contributes to SRC-regulated transcription activation.
SUBUNIT: Interacts with SRC. Interacts with LCK when tyrosine phosphorylated.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Detected in spleen and thyroid, and at lower levels in kidney, brain, lung and pancreas.
PTM: Tyrosine phosphorylated (by SRC).
SIMILARITY: Contains 2 PH domains.
SEQUENCE CAUTION: Sequence=BAB67807.1; Type=Erroneous initiation;

-  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: 49.94 RPKM in Thyroid
Total median expression: 389.25 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.4047-0.285 Picture PostScript Text
3' UTR -299.201218-0.246 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
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF00169 - PH domain

SCOP Domains:
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2COF - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q8N4X5
FrontTopSide
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 orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0017124 SH3 domain binding
GO:0030296 protein tyrosine kinase activator activity
GO:0035591 signaling adaptor activity
GO:0042169 SH2 domain binding

Biological Process:
GO:0006954 inflammatory response
GO:0007346 regulation of mitotic cell cycle
GO:0009966 regulation of signal transduction
GO:0032675 regulation of interleukin-6 production
GO:0032757 positive regulation of interleukin-8 production
GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway
GO:0045893 positive regulation of transcription, DNA-templated
GO:0061098 positive regulation of protein tyrosine kinase activity

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AF474151 - Homo sapiens XB130 mRNA, complete cds.
BC024314 - Homo sapiens actin filament associated protein 1-like 2, mRNA (cDNA clone MGC:17852 IMAGE:3900921), complete cds.
AK123108 - Homo sapiens cDNA FLJ41113 fis, clone BRACE1000258.
BC033212 - Homo sapiens actin filament associated protein 1-like 2, mRNA (cDNA clone MGC:45872 IMAGE:4909140), complete cds.
AK291712 - Homo sapiens cDNA FLJ76315 complete cds.
AK294969 - Homo sapiens cDNA FLJ57978 complete cds.
AK027470 - Homo sapiens cDNA FLJ14564 fis, clone NT2RM4000229, weakly similar to Gallus gallus actin filament-associated protein (AFAP-110) mRNA.
BC035713 - Homo sapiens KIAA1914, mRNA (cDNA clone IMAGE:5587725), partial cds.
AB067501 - Homo sapiens mRNA for KIAA1914 protein, partial cds.
JD109926 - Sequence 90950 from Patent EP1572962.
JD226100 - Sequence 207124 from Patent EP1572962.
JD561694 - Sequence 542718 from Patent EP1572962.
JD053305 - Sequence 34329 from Patent EP1572962.
JD040642 - Sequence 21666 from Patent EP1572962.
JD049140 - Sequence 30164 from Patent EP1572962.
BC016403 - Homo sapiens actin filament associated protein 1-like 2, mRNA (cDNA clone IMAGE:4157516), containing frame-shift errors.
JD304722 - Sequence 285746 from Patent EP1572962.
JD083023 - Sequence 64047 from Patent EP1572962.
JD111202 - Sequence 92226 from Patent EP1572962.
JD284036 - Sequence 265060 from Patent EP1572962.
JD244421 - Sequence 225445 from Patent EP1572962.
JD041036 - Sequence 22060 from Patent EP1572962.
JD386098 - Sequence 367122 from Patent EP1572962.
JD265736 - Sequence 246760 from Patent EP1572962.
JD448987 - Sequence 430011 from Patent EP1572962.
AK295538 - Homo sapiens cDNA FLJ58775 complete cds.
JD198424 - Sequence 179448 from Patent EP1572962.
JD355156 - Sequence 336180 from Patent EP1572962.
JD036570 - Sequence 17594 from Patent EP1572962.
JD363183 - Sequence 344207 from Patent EP1572962.
JD360970 - Sequence 341994 from Patent EP1572962.
JD336234 - Sequence 317258 from Patent EP1572962.
JD276186 - Sequence 257210 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6P7, AF1L2_HUMAN, B3KVQ8, ENST00000304129.1, ENST00000304129.2, ENST00000304129.3, ENST00000304129.4, ENST00000304129.5, ENST00000304129.6, ENST00000304129.7, ENST00000304129.8, KIAA1914, NM_001351075, Q2UZW3, Q8N4X5, Q8TB54, Q96PX4, Q96SY5, uc317nje.1, uc317nje.2, XB130
UCSC ID: ENST00000304129.9_11
RefSeq Accession: NM_001001936.3
Protein: Q8N4X5 (aka AF1L2_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.