Table 2 HERV-W genomic context: insertions into human coding genes

1p34.2 (+)

HIVEP3 Int 1(−)

Transcription factor, binds Ig and T-cell receptors recombination signal

1q25.2 (−)

RASAL2 Int 1 (+)^b

RAS superfamily of small GTPases protein activator like. Associations: BMI, weight

1q42.13* (−)

ZNF678 Int 2 (+)^a,b

Zinc Finger protein. Associations: body height

2p23.1a* (+)

LCLAT1 Int 2 (+)^b

Predominantly remodels anionic phospholipids in endoplasmic reticulum

2p16.2 (+)

ASB3 Int 1/2 (−)^b

Suppressor of cytokine signaling proteins and their binding partners

2q22.2* (−)

KYNU Int 2 (+)^a,b

NAD cofactors biosynthesis from tryptophan. Associations: body height, cholesterol, schizophrenia

2q24.3 (−)

COBLL1 Int 2 (−)^a

Cordon bleu WH2 repeat protein-like 1. Associations: BMI, Cholesterol, HDL, triglycerides, stroke, response to statin therapy, anthropometric sexual dimorphism

2q31.2a (−)

AGPS Int 1 (+)^b

[603051] Mutations are cause of rhizomelic chondrodysplasia punctata type 3

2q35 (−)

DIRC3 Int 1 (−)^b

Disrupted in renal carcinoma long non-coding RNA. Associations: diabetes mellitus

3p22.2* (−)

SLC22a14 Int 1 (+)^b

Solute carrier transmembrane protein

3q22.1 (−)

NEK11 Int 14/13 (+)^b

Never In mitosis kinase. Involved in DNA replication and G₂/M checkpoint response to DNA damage. Related to embryonic lethality and preeclampsia

3q23b (+)

XRN1 Int 1 (−)^b

Exoribonuclease involved in Long noncoding RNA decapping and miRNA regulation

3q26.32 (+)

ZMAT3 Int 2/3 (−)^a,b

Zinc finger matrin. Acts as a bona fide target gene of p53/TP53

4p16.3* (−)

ZNF595 Int 3 (+)

Zinc finger protein. Function as transcription factor

4p16.1* (+)

ACOX3 Int 1 (−)^a,b

Oxidizes the CoA-esters of 2-methyl-branched fatty acids

4q31.3 (+)

ARFIP1 Int 2 (+)^b

ADP ribosylation factor interacting protein1. [605928] Enhance the cholera toxin activity

5q12.1* (+)

DEPDC1B Int 2 (−)^b

Significantly upregulated in nonsmall cell lung carcinoma cell lines (reduced patient survival)

5q22.2* (+)

ACOT13 Int 1 (+)

Acyl-CoA thioesterase. Involved in regulation of lipid composition and metabolism

6q12 (+)

EYS Int 13 (−)^b

[612424] In photoreceptor layer: mutated in autosomal recessive retinitis pigmentosa

6q14.3a* (−)

TBX18 Int 7 (−)^a,b

Role in embryonic development. Associations: cholesterol, coronary disease

6q21a (+)

ATG5 Int 6 (−)^a,b

Autophagy related apoptosis specific protein. Associations: lipoproteins, LES

6q21b° (+)

PDSS2 Int 2 (−)^b

Prenyl (decaprenyl) diphosphate synthase, subunit 2. Synthesizes the side-chain of coenzyme Q. [610564] Coenzyme Q10 deficiency, primary, 3: fatal encephalomyopathy and nephrotic syndrome

6q21c (+)

SLC16A10 Int 1 (+)^a,b

Na⁽⁺⁾-independent transport of aromatic amino acids across the plasma membrane. Associations: cholesterol, LDL

6q24.2a (−)

AIG1 Int 1 (+)^b

Androgen-induced. Associations: C-reactive protein, insulin, myocardial infarction

7p21.1 (−)

BZW2 Int 3 (+)

Homo sapiens basic leucine zipper and W2 domains 2

7p14.1* (−)

SUGCT/C7orf10 Int 1 (+)^b

[609187] Mutations are associated with glutaric aciduria type III. Others: BMI, fat distribution, cardiomegaly, coronary disease, pancreatic and prostatic neoplasms

7q31.1a (+)

NRCAM Int 2 (−)^a

Neuronal Cell Adhesion Molecule. Associations: autism, obsessive compulsive disorder, schizophrenia

7q31.1b (−)

FOXP2 Int 2 (+)^a,b

[605317] Required for development of speech and language regions of the brain during embryogenesis. Associated to speech-language disorders

8p21.3 (+)

SLC18A1 Int 10/11 (−)^b

Involved in vesicular transport of biogenic amines. Associations: bipolar disorder, major depressive disorder

8q12.3a (−)

NKAIN3 Int 3 (+)

Na+/K+ transporting ATPase interacting proteins. Associations: mental competency, neuroblastoma, stroke

8q12.3b (+)

CYP7B1 Int 1 (−)^b

[603711] Cyp450 enzyme. Associations: bile acid synthesis congenital defect, spastic paraplegia. Others: Alzheimer disease, lipoproteins, schizophrenia

8q21.11 (+)

UBE2 W Int 2(−)^b

Ubiquitin-conjugating enzyme. Along with ubiquitin-activating (E1) and ligating (E3) enzymes, coordinates the ubiquitin addition to proteins. [614277] Interacts with FANCL and regulates the monoubiquitination of Fanconi anemia protein FANCD2

8q21.13 (+)

ZNF704 Int 2 (−)^b

Zinc finger protein

9p24.1 (+)

PTPRD Int 12 (−)^b

Protein tyrosine phosphatase, receptor type, D. [601598] Restless Legs Syndrome. Associations: asthma, BMI, cholesterol, lipids, lipoproteins, triglycerides, diabetes

9p13.3* (−)

CD72 Int 1 (−)^a,b

B-cell proliferation and differentiation antigen. Associations: lupus erythematosus

10q23.33 (−)

CYP2C19 Int 6 (+)^b

[124020] Cyp450 enzyme, responsible for therapeutic agents metabolism. Associated to metabolic defects and variants

10q24.1 (−)

ENTPD1 Int 1 (+)^b

[601752] Triphosphate Diphosphohydrolase. Associated with Spastic Paraplegia

11p14.2* (−)

ANO3 Int 14 (+)^a,b

[610110] May act as a chloride channel. Associations: Dystonia 24. Others: bmi, obesity, c-reactive protein, cholesterol, coronary disease, schizophrenia

11q14.1 (−)

AAMDC Int 2 (+)^b

Adipogenesis associated Mth938 domain containing

11q14.2 (−)

PRSS23 Int 2 (+)^b

Encodes a conserved member of the trypsin family of serine proteases

12p13.31b (−)

RIMKLB Int 5 (+)^b

Catalyses ATP-dependent condensation of NAA and glutamate to produce NAAG

12q23.3 (+)

SLC41A2 Int 1 (−)

Solute carrier family 41member 2

13q13.3 (+)

ALG5 Int 7/8 (−)^b

Participates in N-linked glycosylation of proteins

14q11.2* (+)

TCRA Int 1 (+)^b

T cell receptor alpha locus

14q21.2* (−)

FAM179B Int 7 (+)

Homo sapiens family with sequence similarity 179 member B

14q23.1 (+)

C14orf37 Int 4 (−)^b

Associations: attention deficit disorder with hyperactivity

17q12a (+)

SLFN14 Int 3 (−)^b

Implicated in regulation of cell growth and T-cell development (studies in mouse

17q12b° (−)

ACACA Int 2/6 (−)^b

Biogenesis of long-chain fatty acid. Associations: BMI, breast cancer

17q22 (−)

STXBP4 Int 8 (+) ^b

Translocation of transport vesicles from cytoplasm to plasma membrane, like the insulin-stimulated GLUT4 translocation in adipocytes. Associations: BMI, cholesterol

19p12a (+)

ZNF90 Int 1 (+)^b

Zinc finger protein 90. May be involved in transcriptional regulation. [603973]

19q13.2a (+)

ZNF780A Ex 9 (−)^b

Zinc finger protein 780A

19q13.2b (−)

CYP2A7 in 1 (−)^b

Cytochrome P450, family 2, subfamily A, polypeptide 7

21q22.2 (−)

IGSF5 Ex 1–2, Int 1 (+) ^b

Participates at tight-junctions (kidney, gut) or acts as adhesion molecule (testis). Associations: coronary disease, lipoproteins, Parkinson disease, stroke

Xp11.21 (−)

FAAH2 Int 7 (+)^b

Degradation and inactivation of bioactive fatty acid amides

Yq11.222* (+)

CD24 Int 1 (−)

Mature granulocytes and B cells surface antigen