HDGFL2 (HDGF like 2)

Gene

• Entrez ID: 84717
• Gene name: HDGF like 2
• Gene symbol: HDGFL2
• Synonyms (NCBI Gene): HDGF-2, HDGF2, HDGFRP2, HRP-2, HRP2
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. The protein includes an N-terminal PWWP domain that binds to methyl-lysine-containing histones, with specific binding of this protein to tri-methylated lysines 36 and 79 of hi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT551602	hsa-miR-548ac	PAR-CLIP	21572407
MIRT551601	hsa-miR-548bb-3p	PAR-CLIP	21572407
MIRT551600	hsa-miR-548d-3p	PAR-CLIP	21572407
MIRT551599	hsa-miR-548h-3p	PAR-CLIP	21572407
MIRT551598	hsa-miR-548z	PAR-CLIP	21572407
MIRT551597	hsa-miR-548as-3p	PAR-CLIP	21572407
MIRT551596	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT551595	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT551594	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT551593	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT551592	hsa-miR-940	PAR-CLIP	21572407
MIRT551591	hsa-miR-2682-5p	PAR-CLIP	21572407
MIRT551590	hsa-miR-34b-5p	PAR-CLIP	21572407
MIRT551589	hsa-miR-449c-5p	PAR-CLIP	21572407
MIRT551588	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT551587	hsa-miR-3148	PAR-CLIP	21572407
MIRT551586	hsa-miR-4423-3p	PAR-CLIP	21572407

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21044950, 25689719, 26721387, 32459350
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26721387
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006281	Process	DNA repair	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0030307	Process	Positive regulation of cell growth	IMP	25689719
GO:0042692	Process	Muscle cell differentiation	IEA
GO:0042692	Process	Muscle cell differentiation	IMP	32459350
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	ISS
GO:0061628	Function	Histone H3K27me3 reader activity	IBA
GO:0061628	Function	Histone H3K27me3 reader activity	IDA	26721387
GO:0062072	Function	Histone H3K9me2/3 reader activity	IBA
GO:0062072	Function	Histone H3K9me2/3 reader activity	IDA	26721387
GO:0140566	Function	Histone reader activity	IDA	26721387
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IMP	26721387
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IMP	26721387

Other IDs

• MIM: 617884
• HGNC: 14680
• e!Ensembl: ENSG00000167674

Protein

• UniProt ID: Q7Z4V5
• Protein name: Hepatoma-derived growth factor-related protein 2 (HDGF-related protein 2) (HRP-2) (Hepatoma-derived growth factor 2) (HDGF-2)
• Protein function: Acts as an epigenetic regulator of myogenesis in cooperation with DPF3a (isoform 2 of DPF3/BAF45C) (PubMed:32459350). Associates with the BAF complex via its interaction with DPF3a and HDGFL2-DPF3a activate myogenic genes by increasing chromatin
• PDB: 3EAE, 3QBY, 3QJ6, 6T3I, 7HG0, 7HG1, 7HG2, 7HG3, 7HG4, 7HG5, 7HG6, 7HG7, 7HG8, 7HG9, 7HGA, 7HGB, 7HGC, 7HGD, 7HGE, 7HGF, 7HGG, 7HGH, 7HGI, 7HGJ, 7HGK, 7HGL, 7HGM, 7HGN, 7HGO, 7HGP, 7HGQ, 7HGR, 7HGS, 7HGT, 7HGU, 7HGV, 7HGW, 7HGX, 7HGY, 7HGZ, 7HH0, 7HH1, 7HH2, 7HH3, 7HH4, 7HH5, 7HH6, 7HH7, 7HH8, 7HH9, 7HHA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00855	PWWP	5 → 89	PWWP domain	Domain
  PF11467	LEDGF	472 → 573	Lens epithelium-derived growth factor (LEDGF)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. High expression is found in heart, skeletal muscle, ovary and testis. Overexpression is frequently observed in hepatocellular carcinoma samples. {ECO:0000269|PubMed:25689719}.
• Sequence:

  MPHAFKPGDLVFAKMKGYPHWPARIDDIADGAVKPPPNKYPIFFFGTHETAFLGPKDLFP
  YDKCKDKYGKPNKRKGFNEGLWEIQNNPHASYSAPPPVSSSDSEAPEANPADGSDADEDD
  EDRGVMAVTAVTATAASDRMESDSDSDKSSDNSGLKRKTPALKMSVSKRARKASSDLDQA
  SVSPSEEENSESSSESEKTSDQDFTPEKKAAVRAPRRGPLGGRKKKKAPSASDSDSKADS
  DGAKPEPVAMARSASSSSSSSSSSDSDVSVKKPPRGRKPAEKPLPKPRGRKPKPERPPSS
  SSSDSDSDEVDRISEWKRRDEARRRELEARRRREQEEELRRLREQEKEEKERRRERADRG
  EAERGSGGSSGDELREDDEPVKKRGRKGRGRGPPSSSDSEPEAELEREAKKSAKKPQSSS
  TEPARKPGQKEKRVRPEEKQQAKPVKVERTRKRSEGFSMDRKVEKKKEPSVEEKLQKLHS
  EIKFALKVDSPDVKRCLNALEELGTLQVTSQILQKNTDVVATLKKIRRYKANKDVMEKAA
  EVYTRLKSRVLGPKIEAVQKVNKAGMEKEKAEEKLAGEELAGEEAPQEKAEDKPSTDLSA
  PVNGEATSQKGESAEDKEHEEGRDSEEGPRCGSSEDLHDSVREGPDLDRPGSDRQERERA
  RGDSEALDEES

• Sequence length: 671

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
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29763915	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25689719		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35166240	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25689719		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28948179		★☆☆☆☆ Found in Text Mining only