AFAP1L2 (actin filament associated protein 1 like 2)

Gene

• Entrez ID: 84632
• Gene name: Actin filament associated protein 1 like 2
• Gene symbol: AFAP1L2
• Synonyms (NCBI Gene): CTB-1144G6.4, KIAA1914, XB130
• Chromosome: 10
• Chromosome location: 10q25.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025412	hsa-miR-34a-5p	Proteomics	21566225
MIRT025412	hsa-miR-34a-5p	Proteomics	21566225
MIRT025412	hsa-miR-34a-5p	Proteomics	21566225
MIRT770903	hsa-miR-1270	CLIP-seq
MIRT770904	hsa-miR-146a	CLIP-seq
MIRT770905	hsa-miR-146b-5p	CLIP-seq
MIRT770906	hsa-miR-185	CLIP-seq
MIRT770907	hsa-miR-2392	CLIP-seq
MIRT770908	hsa-miR-3925-5p	CLIP-seq
MIRT770909	hsa-miR-4306	CLIP-seq
MIRT770910	hsa-miR-4459	CLIP-seq
MIRT770911	hsa-miR-4493	CLIP-seq
MIRT770912	hsa-miR-4531	CLIP-seq
MIRT770913	hsa-miR-4644	CLIP-seq
MIRT770914	hsa-miR-5096	CLIP-seq
MIRT770915	hsa-miR-620	CLIP-seq
MIRT770916	hsa-miR-1264	CLIP-seq
MIRT770917	hsa-miR-1269	CLIP-seq
MIRT770918	hsa-miR-1269b	CLIP-seq
MIRT770919	hsa-miR-1288	CLIP-seq
MIRT770920	hsa-miR-3978	CLIP-seq
MIRT770921	hsa-miR-4312	CLIP-seq
MIRT770922	hsa-miR-4515	CLIP-seq
MIRT770923	hsa-miR-4529-3p	CLIP-seq
MIRT770924	hsa-miR-4740-5p	CLIP-seq
MIRT770925	hsa-miR-875-3p	CLIP-seq
MIRT1927408	hsa-miR-3120-3p	CLIP-seq
MIRT2168172	hsa-miR-143	CLIP-seq
MIRT2168173	hsa-miR-4433	CLIP-seq
MIRT2168174	hsa-miR-4435	CLIP-seq
MIRT2168175	hsa-miR-4770	CLIP-seq
MIRT2168176	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IDA	17412687
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006954	Process	Inflammatory response	IBA
GO:0006954	Process	Inflammatory response	IDA	17412687
GO:0007346	Process	Regulation of mitotic cell cycle	IBA
GO:0007346	Process	Regulation of mitotic cell cycle	IDA	17412687
GO:0017124	Function	SH3 domain binding	IPI	17412687
GO:0030296	Function	Protein tyrosine kinase activator activity	IBA
GO:0030296	Function	Protein tyrosine kinase activator activity	IDA	17412687
GO:0032675	Process	Regulation of interleukin-6 production	IDA	17412687
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	17412687
GO:0042169	Function	SH2 domain binding	IPI	17412687
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IBA
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IDA	17412687
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17412687

Other IDs

• MIM: 612420
• HGNC: 25901
• e!Ensembl: ENSG00000169129

Protein

• UniProt ID: Q8N4X5
• Protein name: Actin filament-associated protein 1-like 2 (AFAP1-like protein 2)
• Protein function: May play a role in a signaling cascade by enhancing the kinase activity of SRC. Contributes to SRC-regulated transcription activation.
• PDB: 2COF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	169 → 271	PH domain	Domain
  PF00169	PH	338 → 445	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in spleen and thyroid, and at lower levels in kidney, brain, lung and pancreas. {ECO:0000269|PubMed:17412687}.
• Sequence:

  MERYKALEQLLTELDDFLKILDQENLSSTALVKKSCLAELLRLYTKSSSSDEEYIYMNKV
  TINKQQNAESQGKAPEEQGLLPNGEPSQHSSAPQKSLPDLPPPKMIPERKQLAIPKTESP
  EGYYEEAEPYDTSLNEDGEAVSSSYESYDEEDGSKGKSAPYQWPSPEAGIELMRDARICA
  FLWRKKWLGQWAKQLCVIKDNRLLCYKSSKDHSPQLDVNLLGSSVIHKEKQVRKKEHKLK
  ITPMNADVIVLGLQSKDQAEQWLRVIQEVSGLPSEGASEGNQYTPDAQRFNCQKPDIAEK
  YLSASEYGSSVDGHPEVPETKDVKKKCSAGLKLSNLMNLGRKKSTSLEPVERSLETSSYL
  NVLVNSQWKSRWCSVRDNHLHFYQDRNRSKVAQQPLSLVGCEVVPDPSPDHLYSFRILHK
  GEELAKLEAKSSEEMGHWLGLLLSESGSKTDPEEFTYDYVDADRVSCIVSAAKNSLLLMQ
  RKFSEPNTYIDGLPSQDRQEELYDDVDLSELTAAVEPTEEATPVADDPNERESDRVYLDL
  TPVKSFLHGPSSAQAQASSPTLSCLDNATEALPADSGPGPTPDEPCIKCPENLGEQQLES
  LEPEDPSLRITTVKIQTEQQRISFPPSCPDAVVATPPGASPPVKDRLRVTSAEIKLGKNR
  TEAEVKRYTEEKERLEKKKEEIRGHLAQLRKEKRELKETLLKCTDKEVLASLEQKLKEID
  EECRGEESRRVDLELSIMEVKDNLKKAEAGPVTLGTTVDTTHLENVSPRPKAVTPASAPD
  CTPVNSATTLKNRPLSVVVTGKGTVLQKAKEWEKKGAS

• Sequence length: 818

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICO-URETERAL REFLUX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	26191231, 31219645		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26191231	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24581082, 26191231	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22190283, 34094815, 37733919	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22805860, 25980441, 29323101		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24581082	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37729738	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29059373	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34780466	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25980441		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28849225		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	26191231		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22190283, 30246718		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25980441	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24581082, 34780466	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26191231, 31219645		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30246718		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22805860, 25980441, 29323101		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27509056		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22927913		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21224076, 22927913, 27509056, 31219645		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25892537		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25892537	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	26191231	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22927913, 26191231, 30820526		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	19060924		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27509056		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27509056	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25980441	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	30820526		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	29059373		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22805860		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22927913		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22927913	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	21224076		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	21224076, 22927913		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22927913	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22928011, 23527086	Associate	★☆☆☆☆ Found in Text Mining only