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Aliases for AFAP1L2 Gene

Aliases for AFAP1L2 Gene

  • Actin Filament Associated Protein 1 Like 2 2 3 5
  • KIAA1914 2 3 4
  • AFAP1-Like Protein 2 3 4
  • XB130 3 4
  • Actin Filament Associated Protein 1-Like 2 2
  • Actin Filament-Associated Protein 1-Like 2 3
  • CTB-1144G6.4 3
  • CTB-1144G6.6 3

External Ids for AFAP1L2 Gene

Previous HGNC Symbols for AFAP1L2 Gene

  • KIAA1914

Previous GeneCards Identifiers for AFAP1L2 Gene

  • GC10M116045
  • GC10M109682

Summaries for AFAP1L2 Gene

GeneCards Summary for AFAP1L2 Gene

AFAP1L2 (Actin Filament Associated Protein 1 Like 2) is a Protein Coding gene. Among its related pathways are Cytoskeletal Signaling. GO annotations related to this gene include SH3 domain binding and protein tyrosine kinase activator activity. An important paralog of this gene is AFAP1.

UniProtKB/Swiss-Prot for AFAP1L2 Gene

  • May play a role in a signaling cascade by enhancing the kinase activity of SRC. Contributes to SRC-regulated transcription activation.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFAP1L2 Gene

Genomics for AFAP1L2 Gene

Regulatory Elements for AFAP1L2 Gene

Enhancers for AFAP1L2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G114399 1.4 FANTOM5 ENCODE dbSUPER 14.1 +2.3 2296 5.8 RAD21 GLIS2 SCRT2 EGR2 CEBPB GATAD2B NR2F2 SMARCA4 ZNF341 IKZF1 AFAP1L2 GC10P114357
GH10G114427 0.9 Ensembl ENCODE dbSUPER 19 -22.2 -22239 0.4 ZNF341 GLIS1 AFAP1L2 ENSG00000279796 RN7SL384P
GH10G114320 1.4 FANTOM5 ENCODE dbSUPER 10.7 +83.6 83577 3.1 CTCF ESRRA TAL1 MAX RAD21 RFX5 GATA3 CTBP1 SMC3 HNF4G AFAP1L2 LOC105378494 GC10P114357
GH10G114372 1.2 Ensembl ENCODE dbSUPER 12 +30.2 30169 4.1 ZNF146 RFX1 NFIB JUN MAX CEBPB MNT EP300 BRCA1 OSR2 AFAP1L2 ABLIM1 TDRD1 GC10P114357
GH10G114306 1.2 Ensembl ENCODE dbSUPER 11.8 +98.0 98021 1.5 USF2 NR3C1 DPF2 RAD21 ZIC2 FOXA1 MBD2 GATA3 JUND SMC3 AFAP1L2 VWA2 LOC105378494 ENSG00000275024
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AFAP1L2 on UCSC Golden Path with GeneCards custom track

Promoters for AFAP1L2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000033774 1143 1601 ZSCAN5A CTCF ZNF777 SUZ12 RBBP5 RAD21 ZFHX2 GLIS2 ZBTB48 POLR2A

Genomic Location for AFAP1L2 Gene

Chromosome:
10
Start:
114,280,730 bp from pter
End:
114,405,143 bp from pter
Size:
124,414 bases
Orientation:
Minus strand

Genomic View for AFAP1L2 Gene

Genes around AFAP1L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AFAP1L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AFAP1L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFAP1L2 Gene

Proteins for AFAP1L2 Gene

  • Protein details for AFAP1L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4X5-AF1L2_HUMAN
    Recommended name:
    Actin filament-associated protein 1-like 2
    Protein Accession:
    Q8N4X5
    Secondary Accessions:
    • A8K6P7
    • B3KVQ8
    • Q2UZW3
    • Q8TB54
    • Q96PX4
    • Q96SY5

    Protein attributes for AFAP1L2 Gene

    Size:
    818 amino acids
    Molecular mass:
    91300 Da
    Quaternary structure:
    • Interacts with SRC. Interacts with LCK when tyrosine phosphorylated.
    SequenceCaution:
    • Sequence=BAB67807.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AFAP1L2 Gene

    Alternative splice isoforms for AFAP1L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AFAP1L2 Gene

Post-translational modifications for AFAP1L2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AFAP1L2 (AFAP1L2)
  • Santa Cruz Biotechnology (SCBT) Antibodies for AFAP1L2

No data available for DME Specific Peptides for AFAP1L2 Gene

Domains & Families for AFAP1L2 Gene

Gene Families for AFAP1L2 Gene

Protein Domains for AFAP1L2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AFAP1L2: view

No data available for UniProtKB/Swiss-Prot for AFAP1L2 Gene

Function for AFAP1L2 Gene

Molecular function for AFAP1L2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in a signaling cascade by enhancing the kinase activity of SRC. Contributes to SRC-regulated transcription activation.

Gene Ontology (GO) - Molecular Function for AFAP1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017124 SH3 domain binding IPI 17412687
GO:0030296 protein tyrosine kinase activator activity IDA 17412687
GO:0035591 signaling adaptor activity IEA --
GO:0042169 SH2 domain binding IPI 17412687
genes like me logo Genes that share ontologies with AFAP1L2: view
genes like me logo Genes that share phenotypes with AFAP1L2: view

Animal Models for AFAP1L2 Gene

MGI Knock Outs for AFAP1L2:

Animal Model Products

CRISPR Products

miRNA for AFAP1L2 Gene

miRTarBase miRNAs that target AFAP1L2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AFAP1L2 Gene

Localization for AFAP1L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFAP1L2 Gene

Cytoplasm.

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 AFAP1L2 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for AFAP1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 17412687
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with AFAP1L2: view

Pathways & Interactions for AFAP1L2 Gene

SuperPathways for AFAP1L2 Gene

SuperPathway Contained pathways
1 Cytoskeletal Signaling
genes like me logo Genes that share pathways with AFAP1L2: view

Pathways by source for AFAP1L2 Gene

1 Cell Signaling Technology pathway for AFAP1L2 Gene

Gene Ontology (GO) - Biological Process for AFAP1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response IDA 17412687
GO:0007346 regulation of mitotic cell cycle IDA 17412687
GO:0009966 regulation of signal transduction IEA --
GO:0009967 positive regulation of signal transduction IEA --
GO:0032675 regulation of interleukin-6 production IDA 17412687
genes like me logo Genes that share ontologies with AFAP1L2: view

No data available for SIGNOR curated interactions for AFAP1L2 Gene

Transcripts for AFAP1L2 Gene

Unigene Clusters for AFAP1L2 Gene

Actin filament associated protein 1-like 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AFAP1L2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - - - - -
SP5: - - -
SP6: - - -
SP7:
SP8: -
SP9: - - - - - - -
SP10: -
SP11: -

ExUns: 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c
SP1: -
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for AFAP1L2 Gene

GeneLoc Exon Structure for
AFAP1L2
ECgene alternative splicing isoforms for
AFAP1L2

Expression for AFAP1L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AFAP1L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AFAP1L2 Gene

This gene is overexpressed in Nerve - Tibial (x5.4), Thyroid (x5.3), and Spleen (x4.7).

Protein differential expression in normal tissues from HIPED for AFAP1L2 Gene

This gene is overexpressed in Liver (19.8) and Spleen (17.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AFAP1L2 Gene



NURSA nuclear receptor signaling pathways regulating expression of AFAP1L2 Gene:

AFAP1L2

SOURCE GeneReport for Unigene cluster for AFAP1L2 Gene:

Hs.501106

mRNA Expression by UniProt/SwissProt for AFAP1L2 Gene:

Q8N4X5-AF1L2_HUMAN
Tissue specificity: Detected in spleen and thyroid, and at lower levels in kidney, brain, lung and pancreas.

Evidence on tissue expression from TISSUES for AFAP1L2 Gene

  • Nervous system(4.8)
  • Liver(4.1)
  • Pancreas(4.1)
  • Thyroid gland(2.7)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with AFAP1L2: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AFAP1L2 Gene

Orthologs for AFAP1L2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AFAP1L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AFAP1L2 34 35
  • 99.23 (n)
cow
(Bos Taurus)
Mammalia AFAP1L2 34 35
  • 85.58 (n)
rat
(Rattus norvegicus)
Mammalia Afap1l2 34
  • 84.58 (n)
dog
(Canis familiaris)
Mammalia AFAP1L2 34 35
  • 84.15 (n)
mouse
(Mus musculus)
Mammalia Afap1l2 34 16 35
  • 84.11 (n)
oppossum
(Monodelphis domestica)
Mammalia AFAP1L2 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AFAP1L2 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves AFAP1L2 34 35
  • 69.82 (n)
lizard
(Anolis carolinensis)
Reptilia AFAP1L2 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia afap1l2 34
  • 62.9 (n)
zebrafish
(Danio rerio)
Actinopterygii afap1l2 34 35
  • 59.83 (n)
Species where no ortholog for AFAP1L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AFAP1L2 Gene

ENSEMBL:
Gene Tree for AFAP1L2 (if available)
TreeFam:
Gene Tree for AFAP1L2 (if available)

Paralogs for AFAP1L2 Gene

Paralogs for AFAP1L2 Gene

(1) SIMAP similar genes for AFAP1L2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with AFAP1L2: view

Variants for AFAP1L2 Gene

Sequence variations from dbSNP and Humsavar for AFAP1L2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000008829 -- 114,374,874(+) GTGGT(C/T)TAGGT intron-variant
rs1000013521 -- 114,311,184(+) GGCAG(C/T)CAGAG intron-variant
rs1000027226 -- 114,390,712(+) CGAGA(-/CT)CTGTC intron-variant
rs1000039107 -- 114,360,389(+) CAGCC(A/T)CAGAT intron-variant
rs1000047495 -- 114,336,832(+) CATCC(A/G)GACAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AFAP1L2 Gene

Variant ID Type Subtype PubMed ID
esv2741162 CNV deletion 23290073
esv2741173 CNV deletion 23290073
nsv1069079 CNV deletion 25765185
nsv1143519 CNV deletion 24896259
nsv7211 OTHER inversion 18451855

Variation tolerance for AFAP1L2 Gene

Residual Variation Intolerance Score: 81.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.62; 78.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AFAP1L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AFAP1L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFAP1L2 Gene

Disorders for AFAP1L2 Gene

Relevant External Links for AFAP1L2

Genetic Association Database (GAD)
AFAP1L2
Human Genome Epidemiology (HuGE) Navigator
AFAP1L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AFAP1L2

No disorders were found for AFAP1L2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AFAP1L2 Gene

Publications for AFAP1L2 Gene

  1. XB130, a novel adaptor protein for signal transduction. (PMID: 17412687) Xu J. … Liu M. (J. Biol. Chem. 2007) 2 3 4 64
  2. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4 64
  3. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli E.T. … Goldstein D.B. (Eur. J. Hum. Genet. 2010) 3 46 64
  4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G. … White R.L. (Alcohol. Clin. Exp. Res. 2010) 3 46 64
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64

Products for AFAP1L2 Gene

Sources for AFAP1L2 Gene

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